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Gene: Rpl24 MGI:1915443

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.

Human diseases associated with Rpl24 (0 diseases)
Human diseases predicted to be associated with Rpl24 (967 diseases)

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	Matching phenotypes	Source
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal...	ORPHA:1473
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Ovoid vertebral bodies, Abnor...	ORPHA:1856
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Retinopathy Of Prematurity	Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal...	ORPHA:90050
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Lumbar hyperlordosis, Cataract, Optic nerve hypoplas...	ORPHA:370959
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn...	OMIM:602499
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Scoliosis, ...	ORPHA:163937
Bresek Syndrome	Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly...	ORPHA:85284
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Talipes equino...	OMIM:617662
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Co...	ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypo...	OMIM:615181
Autosomal Recessive Stickler Syndrome	Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Irregular vertebral endplates, P...	ORPHA:250984
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Agenesis of cerebellar vermis, Corneal opacity, Cataract, Hypoplasia of the p...	OMIM:613153
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of...	OMIM:615990
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Retinal detachment, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epip...	OMIM:609616
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb,...	ORPHA:959
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Optic nerve hypoplasia...	OMIM:615583
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Achondrogenesis Type 2	Delayed vertebral ossification, Retinal detachment, Absent vertebral body mineralization, Catarac...	ORPHA:93296
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Camptodactyly of finger, Hyperlordosis, Microcephaly, Kyphosis, Opti...	ORPHA:568
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas...	OMIM:620157
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract, Chorioretinal coloboma	OMIM:274205
Renal Coloboma Syndrome	Joint hyperflexibility, Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia	ORPHA:1475
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Thoracic kyphosis, Abnormal bone ossification, Abnormal femoral neck/head morphology,...	ORPHA:163649
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Retinal detachment, Crumpled long bones, Joint laxity, Wormian bones, Corneal opacity...	ORPHA:2788
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Optic disc coloboma, Hy...	OMIM:600092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Microcephaly, Hydrocephalus, Optic atrophy, Aplasia/Hypoplasia of the ...	OMIM:253280
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocorn...	OMIM:206900
Stickler Syndrome Type 1	Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex...	ORPHA:90653
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying...	ORPHA:33445
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Stickler Syndrome, Type Ii	Arthropathy, Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor ...	OMIM:604841
Papillorenal Syndrome	Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi...	OMIM:120330
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, Broad palm, 2-3...	ORPHA:2712
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi...	OMIM:619248
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Aplasia...	ORPHA:85194
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Transient ischemic attack, Duplication of thumb phalanx, Highly arched e...	ORPHA:2995
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Optic atrophy, Cataract	ORPHA:2253
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Hallermann-Streiff Syndrome	Metaphyseal widening, Choreoathetosis, Chorioretinal coloboma, Sparse hair, Iris coloboma, Spina ...	OMIM:234100
Joubert Syndrome 1	Optic disc pallor, Cerebellar vermis hypoplasia, Retinal dystrophy, Agenesis of cerebellar vermis...	OMIM:213300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia	OMIM:615041
Bardet-Biedl Syndrome 11	Retinopathy, Polydactyly, Obesity	OMIM:615988
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Microcephaly, Partial a...	ORPHA:50
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ...	ORPHA:485
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Cerebellar hypoplasia, Microphth...	OMIM:218670
Aicardi Syndrome	Retinal detachment, Cerebellar vermis hypoplasia, Block vertebrae, Cataract, Proximal placement o...	OMIM:304050
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta...	ORPHA:536471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve...	OMIM:614643
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Retinal dystrophy, Postaxial hand polydactyly, Opti...	OMIM:608091
Warsaw Breakage Syndrome	Hypermelanotic macule, Single transverse palmar crease, Microcephaly, Optic disc coloboma, 2-3 to...	OMIM:613398
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Cataract, Coxa valga, Microcephaly, Hydrocepha...	OMIM:619833
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Mi...	OMIM:618736
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Highly arched eyebrow, Portal hypertension...	ORPHA:1454
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor...	ORPHA:1427
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy, Microcephaly	OMIM:620086
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Pal...	OMIM:615280
Vogt-Koyanagi-Harada Disease	Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal ...	ORPHA:3437
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin...	OMIM:152950
Bardet-Biedl Syndrome 5	Syndactyly, Obesity, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel...	OMIM:618889
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, H...	ORPHA:496790
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Facial palsy, Retinal telangiectasia, Shoulder girdle muscle weakness, Exudativ...	OMIM:158900
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Polydactyly, Obesity	OMIM:615991
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Retinal dystrophy, Optic nerve hypoplasia, Slow-growing hair, Microcephaly, Sparse ...	OMIM:300953
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
5Q14.3 Microdeletion Syndrome	Agenesis of cerebellar vermis, Toe syndactyly, Optic nerve hypoplasia, Hypoplasia of the corpus c...	ORPHA:228384
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy	OMIM:614464
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Microcephaly, Hypoplasia of the...	OMIM:616171
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Generalized joint laxity, Coloboma, Abnormal optic disc morpholog...	ORPHA:508498
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia, Thick hair, Synophrys, Hypertrichosis, Hip dysplasia, Intention tremor, L...	OMIM:618381
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal hair morphology, Bilateral...	OMIM:607597
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Cataract, Rhizomelia, Optic nerve hypoplasia, Microcephaly, Flexion co...	OMIM:222765
Rabin-Pappas Syndrome	Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched...	OMIM:620155
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Abnormal left ventricular function, Agenesis of corpus callosum, Postaxial foot polydactyly, Deep...	OMIM:301056
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment	ORPHA:436182
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Polydactyly, Obesity	OMIM:615987
Stickler Syndrome, Type I	Arthropathy, Retinal detachment, Cataract, Arachnodactyly, Joint stiffness, Kyphosis, Irregular f...	OMIM:108300
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Mi...	ORPHA:899
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Coloboma, Congenital contracture, Hypoplasia of the brainstem, Retinal d...	OMIM:236670
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Col...	OMIM:610125
Maternal Uniparental Disomy Of Chromosome 9	Hyperconvex nail, Kyphoscoliosis, Short neck, Hamstring contractures, Retinal dysplasia, Patellar...	ORPHA:96183
Nance-Horan Syndrome	Retinal detachment, Short metacarpal, Cataract, Microcornea, Microphthalmia	ORPHA:627
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Small hand, ...	ORPHA:2714
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Opti...	ORPHA:1528
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Widow's peak, Aplasia/Hypoplasia of the corpus callosum, U...	ORPHA:2143
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Short neck, Optic disc coloboma, Scoliosis, Agenesis of corpus callosum, Iris coloboma	ORPHA:52055
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Low anterior hairline, L...	OMIM:618828
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ...	ORPHA:1466
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Microcephaly, Hypoplasia of the ra...	OMIM:609053
Incontinentia Pigmenti	Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bi...	ORPHA:464
Smith-Magenis Syndrome	Retinal detachment, Synophrys, Broad palm, Increased body weight, Scoliosis, Short palm, Abnormal...	OMIM:182290
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short n...	OMIM:183900
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Weight loss, Arthritis, Punctate keratitis, Failu...	ORPHA:92050
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Retinal detachment, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical h...	ORPHA:3218
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Elbow flexion contracture, 2-3 toe syndacty...	OMIM:618156
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Accelerated skeletal maturation, Large for gestational age, Pulmonic sten...	ORPHA:137634
Exudative Vitreoretinopathy 4	Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreor...	OMIM:601813
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Polydactyly, Short finger, Agenesis of corpus call...	OMIM:182230
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Polydactyly, Obesity, Retinal degeneration	OMIM:615993
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Optic disc coloboma	OMIM:241310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Exaggerated startle response, Cataract, Hypoplasia of the pyra...	OMIM:253800
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Joint laxity, Optic nerve hypoplasia, Hyperopic astigmatism, Long fingers, Fine hair, A...	ORPHA:363686
Stromme Syndrome	Cerebellar vermis hypoplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hydro...	OMIM:243605
Orofaciodigital Syndrome V	Sandal gap, Aganglionic megacolon, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyl...	OMIM:174300
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Synophrys, ...	OMIM:122470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr...	ORPHA:324416
Bardet-Biedl Syndrome 4	Syndactyly, Obesity, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly	OMIM:615982
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Cataract, Reduced bone mine...	ORPHA:2611
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Microcephaly	OMIM:613638
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ...	ORPHA:94068
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Vasculitis, Arthritis	ORPHA:375
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Abnormally large globe, Hypoplasia of the pons, Microc...	OMIM:300749
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Delayed skeletal matu...	ORPHA:401777
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Brittle Cornea Syndrome	Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporos...	ORPHA:90354
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Thoracolumbar scoliosis, Short neck, Optic disc coloboma, Agenesis of corpus callosum, Iris coloboma	OMIM:300472
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Intrauterine growth retardation, Partial agenesis of the corpus callosum, Cerebellar vermis hypop...	OMIM:619074
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Bardet-Biedl Syndrome 18	Cataract, Retinal dystrophy, Obesity, Rod-cone dystrophy, Brachydactyly	OMIM:615995
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C...	ORPHA:79345
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Delayed skeletal maturation...	ORPHA:264200
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Optic nerve hypoplasia, Sagittal craniosynostosis, Patellar subluxation,...	OMIM:615879
Polymicrogyria With Optic Nerve Hypoplasia	Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Superfi...	ORPHA:209956
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Prominent metopic ridge, Facial palsy, Tapered finger...	ORPHA:261349
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Flexion contracture, Decreased body weight, Microphthalmia,...	OMIM:614833
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Failure to thrive, Agene...	OMIM:274270
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
White-Sutton Syndrome	Joint laxity, Failure to thrive, Wormian bones, Optic nerve hypoplasia, Short neck, Microcephaly,...	OMIM:616364
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ...	OMIM:615665
Smith-Magenis Syndrome	Retinal detachment, Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Microcephaly, ...	ORPHA:819
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara...	OMIM:615986
Leg, Absence Deformity Of, With Congenital Cataract	Duplication involving bones of the feet, Progressive cataract, Optic nerve dysplasia, Development...	OMIM:246000
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly, Obesity, Retinal degeneration	OMIM:614845
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Avascular necrosis of the capital femoral ...	ORPHA:247691
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ...	ORPHA:3205
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Sparse scal...	ORPHA:394
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Buphthalmos, Hypoplasia...	OMIM:310600
Congenital Disorder Of Glycosylation, Type Iaa	Attenuation of retinal blood vessels, Optic disc pallor, Microcephaly, Scoliosis, Intrauterine gr...	OMIM:617082
Optic Atrophy 11	Optic nerve hypoplasia, Microcephaly, Optic atrophy, Facial diplegia, Athetosis, Bilateral talipe...	OMIM:617302
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Highly arched eyebrow, Supernumerary nipple, Microcephaly, 2-3 toe ...	OMIM:618454
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath...	ORPHA:447788
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Marshall Syndrome	Retinal detachment, Radial bowing, Cataract, Coxa valga, Hypoplastic ilia, Lens luxation, Ulnar b...	OMIM:154780
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Cerebral atrophy, Macular degene...	OMIM:204200
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Optic atrophy, Co...	OMIM:602271
Waardenburg Syndrome, Type 1	Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelome...	OMIM:193500
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preax...	OMIM:603671
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti...	OMIM:267750
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Sacral dimple, Single trans...	ORPHA:93932
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Cataract, Short thumb, Delayed skeletal maturation, Chorioretinal coloboma, Int...	ORPHA:2489
Stiff Skin Syndrome	Retinal detachment, Limitation of joint mobility, Hypertension	ORPHA:2833
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly, Rod-cone dystrophy	OMIM:615984
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory...	OMIM:619260
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Corneal erosion, Optic disc coloboma	OMIM:270420
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Hypomandibular Faciocranial Dysostosis	Optic disc coloboma, Craniosynostosis	ORPHA:1790
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Coloboma, Polydactyly, Dandy-Walker malformation	OMIM:614465
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Proximal placement of thumb...	ORPHA:261250
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Partia...	ORPHA:171680
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Absent fo...	OMIM:204100
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Scoliosis, Rod-co...	OMIM:616394
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, ...	ORPHA:324737
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Sacral dimple, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finge...	ORPHA:261337
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Small for gestational age...	OMIM:607143
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Microcephaly, Metatarsus adductus, Hypopl...	OMIM:612513
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Partial agenesis of the corpus callosum, Aplasia...	OMIM:222448
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Optic nerve hypoplasia	ORPHA:65288
Spondyloocular Syndrome	Long toe, Retinal detachment, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fractu...	OMIM:605822
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ...	ORPHA:101085
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Kyphosis, Osteoporosis, Platyspo...	ORPHA:2786
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Knee flexion contract...	ORPHA:468631
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Distal joint laxity, Generalized joint laxity,...	ORPHA:1900
Wildervanck Syndrome	Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Pseudopa...	ORPHA:3456
Bardet-Biedl Syndrome 22	Large for gestational age, Microcephaly, Obesity, Postaxial foot polydactyly, Macular hypopigment...	OMIM:617119
Proboscis Lateralis	Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas...	ORPHA:141099
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Retinitis, Microcephaly, Pos...	OMIM:615948
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Sacral dimple, Short neck, Microcephaly, Optic disc coloboma, Short metatarsal,...	OMIM:617157
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Thoracic scoliosis, Cerebellar vermis hypoplasia, Torticollis, Optic nerve hypoplas...	ORPHA:300570
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Rod-cone dystrophy, Hirsutism, Postaxial polydactyly	OMIM:300804
Laurence-Moon Syndrome	Abnormality of the hand, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Polydactyly	OMIM:245800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Absent nipple, Broad hallux, Single transverse palmar crease,...	OMIM:620186
19P13.13 Microdeletion Syndrome	Sandal gap, Optic nerve hypoplasia, Corpus callosum atrophy, Long fingers, Optic atrophy, Long ey...	ORPHA:357001
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Polydactyly, Rod-cone dys...	OMIM:613464
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Hip dislocation, Optic nerve hypoplasia	ORPHA:572013
Oligomeganephronia	Branchial cyst, Hypertension, Optic disc coloboma, Small for gestational age	ORPHA:2260
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Cataract, Genu recurvatum, Abnormal pupil morpho...	ORPHA:2969
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus call...	OMIM:617864
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accelerated skeletal matura...	OMIM:602535
Marshall Syndrome	Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Osteoarthritis, A...	ORPHA:560
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs	OMIM:219250
D-Glyceric Aciduria	Optic nerve hypoplasia, Single transverse palmar crease, Microcephaly, Opisthotonus, Bradycardia,...	OMIM:220120
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxial polydactyly, Cra...	OMIM:605627
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Aplasia/Hypoplasia of ...	ORPHA:65
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Hyphema, Leuk...	OMIM:221900
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Morm Syndrome	Truncal obesity, Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Abnormally ossified vertebrae, Cataract, Hydrocephalus, Optic atrophy, Mic...	ORPHA:3301
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl...	ORPHA:313892
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M...	OMIM:617914
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Failure to thrive, Small for gestati...	ORPHA:464311
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Spastic Paraplegia 54, Autosomal Recessive	Distal upper limb muscle weakness, Optic nerve hypoplasia, Hypoplasia of the corpus callosum	OMIM:615033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microcephaly, Hydrocephalus, Flexion contracture, Coloboma, Hyp...	OMIM:615249
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Overlapping toe, Kyphoscoliosis, Microcephaly, Optic atrophy, Osteo...	OMIM:600118
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Leukocoria, Re...	ORPHA:1556
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Op...	ORPHA:272
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Ectopia lentis, Abnormal hair morphology, ...	ORPHA:1571
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin...	ORPHA:79098
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi...	ORPHA:1617
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Hydrocephalus, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved ey...	OMIM:300166
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Rod-cone dys...	OMIM:136300
Albinism, Oculocutaneous, Type V	Hypoplasia of the fovea, Albinism	OMIM:615312
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair	OMIM:113750
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Sparse scalp hair, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, F...	OMIM:620029
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Cone-shaped epiphysis, Hyperten...	ORPHA:3156
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Optic nerve hypoplasia, Hyperlordosis, Clinodactyly of the 2nd finger, Cone-shaped ep...	ORPHA:221139
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ...	ORPHA:508488
20P13 Microdeletion Syndrome	Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Microcephaly, Synophrys, ...	ORPHA:313781
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Prominent metopic ridge, Rieger anomaly, Tapered finger, Microcephaly, Long f...	ORPHA:521445
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormalit...	ORPHA:294975
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle response, Optic nerve hypoplas...	OMIM:615574
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Obesity, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:600151
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism	OMIM:606952
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontoc...	ORPHA:457284
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Recurrent joint dislocation, Cervical kyphosis, Decreased palmar creases, Tap...	ORPHA:2953
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Obesity, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	ORPHA:363741
Alg12-Cdg	Retinal detachment, Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Long f...	ORPHA:79324
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Coarse hair, Sparse hair, Dandy-Walker malformation, Tricuspid regurgitation, Highly ...	OMIM:617506
Marfan Syndrome	Osteopenia, Limited elbow movement, Increased axial length of the globe, Hypoplasia of the iris, ...	ORPHA:558
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Retinal dystrophy, Cataract, Proximal placement of thumb, Microc...	ORPHA:139471
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,...	ORPHA:170
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Hydrocephalus, Optic atrophy, T...	ORPHA:93400
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Highly arched eyebrow...	OMIM:614424
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Kyphosis, Short toe, Delayed skelet...	ORPHA:3085
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Delayed skeletal maturati...	OMIM:607872
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Retinal detachment, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Pr...	OMIM:225400
Aland Island Eye Disease	Hypoplasia of the fovea, Astigmatism, Albinism	OMIM:300600
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, R...	OMIM:609033
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Coloboma, Radioulnar synostosi...	ORPHA:921
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy	OMIM:183800
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Ankle swelling, Microcephaly, Wrist swelling, Retinal pig...	ORPHA:448237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Microphthalmia, Hydrocephalus, Retinal dysplasia	OMIM:614830
Vitamin K Antagonist Embryofetopathy	Cataract, Short neck, Myelomeningocele, Hydrocephalus, Optic atrophy, Punctate vertebral calcific...	ORPHA:1914
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim...	OMIM:607323
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	OMIM:615771
Von Hippel-Lindau Disease	Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adeno...	ORPHA:892
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c...	ORPHA:42775
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Postaxial polydactyly,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Postaxial polydactyly,...	ORPHA:352665
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dyst...	ORPHA:2526
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Short neck, Abnorm...	ORPHA:233
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Aplasia/Hypoplasia of the cerebe...	ORPHA:649
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Lissencephaly 8	Occipital encephalocele, Cataract, Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Tali...	OMIM:617255
Prune1-Related Neurological Syndrome	Cataract, Microcephaly, Optic atrophy, Cerebral atrophy, Bilateral talipes equinovarus, Scoliosis...	ORPHA:544469
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Flexion contrac...	OMIM:619321
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Joint stiffness, Microcephaly, Flexion con...	OMIM:609069
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypoplasia of the brainstem, Iris coloboma, Abnormal optic chiasm morphology, Tapered finger, Ast...	ORPHA:268261
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Obesity, Aplasia/Hypoplasia of the cerebellum, Age...	ORPHA:3157
Senior-Loken Syndrome 9	Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Obesity, Macular degeneration, Pol...	OMIM:616629
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Kapur-Toriello Syndrome	Cataract, Single transverse palmar crease, Camptodactyly of finger, Short neck, Short thumb, Low ...	OMIM:244300
Chromosome 3Pter-P25 Deletion Syndrome	Prominent metopic ridge, Sacral dimple, Small for gestational age, Overlapping toe, Postaxial pol...	OMIM:613792
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial fo...	OMIM:615996
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho...	OMIM:132450
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Microcephaly, Amish Type	Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, F...	OMIM:607196
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Cataract, Hydrocephalus, Optic atrophy, Hy...	OMIM:615191
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Micro Syndrome	Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Cataract, Joint stiffness, Mic...	ORPHA:2510
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Abnormality of skin pigmentation, Coloboma...	OMIM:612379
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Optic atrophy, Sensory axonal neuropathy	ORPHA:329314
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Alobar holoprosencephaly, Vertebral ...	OMIM:301043
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Åland Islands Eye Disease	Hypoplasia of the fovea, Astigmatism, Hypopigmentation of the fundus	ORPHA:178333
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod...	ORPHA:2839
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir...	OMIM:107320
Stickler Syndrome	Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Reduced bone...	ORPHA:828
Marfan Syndrome	Genu recurvatum, Equinus calcaneus, Flexion contracture, Increased axial length of the globe, Hyp...	OMIM:154700
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ...	ORPHA:225
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Optic atro...	ORPHA:1590
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity	OMIM:610156
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Suleiman-El-Hattab Syndrome	Optic disc pallor, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal...	OMIM:618950
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Cerebellar vermis hypoplasia, Corneal opacity, Optic nerve hypoplasia, Corneal dys...	ORPHA:495875
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Seckel Syndrome 10	Retinal detachment, Microcephaly, Congestive heart failure, Metaphyseal widening, Cone-shaped epi...	OMIM:617253
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Microcephaly, Optic atrophy, Talipes equinovarus, Hypoplasia of the corpus callosum, Sc...	OMIM:617481
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral co...	ORPHA:3173
Retinitis Pigmentosa 74	Optic disc pallor, Obesity, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-co...	OMIM:616562
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Juven...	ORPHA:1264
Developmental And Epileptic Encephalopathy 83	Hypoplasia of the fovea, Highly arched eyebrow, Microcephaly, Synophrys, Genu valgum, Hypoplasia ...	OMIM:618744
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ...	ORPHA:2715
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Ret...	ORPHA:209959
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum,...	OMIM:611560
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor	OMIM:614307
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pupil shape	ORPHA:45358
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiff...	ORPHA:585
Microphthalmia, Syndromic 1	Anophthalmia, Abnormal palmar dermatoglyphics, Microcornea, Chorioretinal coloboma, Prominent fin...	OMIM:309800
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Postural tremor, Optic atrophy, Upper limb amyotrophy, Scoliosis	OMIM:270800
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Obesity, Short long bone, Rod-cone dystrophy, Brachydactyly	OMIM:615633
Cohen Syndrome	Low anterior hairline, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Iris col...	ORPHA:193
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Temtamy Preaxial Brachydactyly Syndrome	Abnormally large globe, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous ...	ORPHA:363417
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Obesity, Postaxial polydactyly	OMIM:615985
Lamb-Shaffer Syndrome	Microcephaly, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis	ORPHA:530983
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Bilateral single transverse palmar ...	ORPHA:44
Trisomy 13	Anophthalmia, Cataract, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Postax...	ORPHA:3378
Joubert Syndrome 20	4-5 toe syndactyly, Retinopathy, Postaxial polydactyly	OMIM:614970
Jaberi-Elahi Syndrome	Dandy-Walker malformation, Brittle hair, Sparse eyelashes, Cataract, Dystonia, Joint stiffness, S...	OMIM:617988
Craniosynostosis 4	Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me...	OMIM:600775
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly, Obesity, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal degeneratio...	OMIM:209900
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Jacobsen Syndrome	Short neck, Abnormal eyelash morphology, Microcephaly, Hydrocephalus, Flexion contracture, Optic ...	OMIM:147791
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Abnormal form of the verte...	ORPHA:744
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Infantile Refsum Disease	Cataract, Facial palsy, Rod-cone dystrophy, Optic atrophy, Cardiomyopathy, Abnormal epiphysis mor...	ORPHA:772
3Q29 Microdeletion Syndrome	Cataract, Tapered finger, Microcephaly, Abnormality of skin pigmentation, Joint hyperflexibility,...	ORPHA:65286
Cysticercosis	Retinal detachment, Abnormal optic chiasm morphology, Stiff neck, Chorioretinitis, Abnormality of...	ORPHA:1560
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Optic nerve hypoplasia, Short neck, Overweight, Delayed proximal femoral epiphyseal ossification,...	ORPHA:226307
Joubert Syndrome 27	Retinopathy, Polydactyly	OMIM:617120
Hydranencephaly	Stiff neck, Optic nerve hypoplasia, Chorioretinal atrophy, Opisthotonus, Primary microcephaly, In...	ORPHA:2177
Marinesco-Sjögren Syndrome	Short palm, Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microcepha...	ORPHA:559
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia ...	ORPHA:290
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Optic atrophy...	ORPHA:2801
Retinitis Pigmentosa 89	Hyperautofluorescent retinal lesion, Rod-cone dystrophy, Retinal thinning, Postaxial polydactyly	OMIM:618955
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Overlapping toe, Short neck, Astigmatism, Retinal coloboma, Horizontal eyebrow, Scolios...	OMIM:618571
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Genera...	ORPHA:228346
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Retinal detachment, Joint laxity, Tricuspid regurgitation, Arachnodactyly, Aor...	OMIM:601776
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Camptosynpolydactyly, Complex	Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail...	OMIM:607539
Warburg Micro Syndrome 3	Cataract, Kyphoscoliosis, Microcephaly, Flexion contracture, Optic atrophy, Low anterior hairline...	OMIM:614222
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract, Secondary microcephaly, Cerebellar hypoplasia, Neonatal death, Micro...	OMIM:613730
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, H...	ORPHA:59315
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Joint stiffness, Kyphosis, Scoliosis, Rod-cone dystrophy, Cerebral ...	ORPHA:2047
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Delayed skeletal maturation, Agenesis ...	ORPHA:95494
Frontonasal Dysplasia 1	Cataract, Postaxial hand polydactyly, Widow's peak, Anterior basal encephalocele, Pectoral muscle...	OMIM:136760
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Microcornea	OMIM:251505
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic megacolon, Highly arc...	ORPHA:220493
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Joint stiffness, Hypoplasia of the pons, Optic atr...	ORPHA:1493
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Osteomyelitis, Cataract, ...	ORPHA:88628
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Broad hallux, Single transverse palmar crease, Microcephaly, Retinal pigment epithelial...	OMIM:614105
Gorlin Syndrome	Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Hydrocephalus, Hemivertebrae, Vertebral ...	ORPHA:377
Pontocerebellar Hypoplasia, Type 16	Cataract, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Scoliosis, Cerebral corti...	OMIM:619527
Knobloch Syndrome 2	Encephalocele, Retinal detachment, Anterior cortical cataract, Vitreous floaters, Vitreoretinopathy	OMIM:618458
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Postaxial polydactyly	OMIM:613094
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Coronal cleft vertebrae, Talipes e...	OMIM:620025
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hypermelanotic macule, Hydrocephal...	ORPHA:60040
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Low posterior hairline, Abnormal shoulder m...	ORPHA:2345
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Cataract, Heart block, Cardiomyopathy, Ham...	ORPHA:773
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Obesity, Coloboma, Microphthalmia	ORPHA:141333
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-co...	OMIM:612674
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Hypertension, Chorioretinal coloboma, Agen...	OMIM:619111
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hemivertebrae, Cerebellar hemisphere hypoplasia, Lumbar hyperlordosis, Arachnodactyly, Sagittal c...	ORPHA:500150
Joubert Syndrome 9	Encephalocele, Cataract, Retinal dystrophy, Astigmatism, Scoliosis	OMIM:612285
Hypomelanosis Of Ito	Syndactyly, Alopecia, Cataract, Microcephaly, Macular hypopigmented whorls, streaks, and patches,...	OMIM:300337
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Peters anomaly, Microphthalmia, Clinodactyly, Ocular anterior segment dysge...	OMIM:610023
Familial Benign Copper Deficiency	Early balding, Diaphyseal thickening, Aplasia/Hypoplasia of the fovea	ORPHA:1551
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Cataract, Single transverse palmar crease, Metatarsus adductus, Brushfield spo...	OMIM:214110
Refsum Disease, Classic	Short fourth metatarsal, Cataract, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone...	OMIM:266500
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Macular hypoplasia, Chor...	OMIM:615219
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Limb tremor, Ankle clonus, F...	OMIM:614877
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Microcephaly, Flexion contracture, Optic atrophy, Low anterior hairlin...	OMIM:614225
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Large for gestational age, Short...	OMIM:213980
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,...	ORPHA:397715
Mend Syndrome	Sacral dimple, Cataract, Overlapping toe, Broad hallux, Long fingers, Kyphosis, Hydrocephalus, 2-...	OMIM:300960
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad...	OMIM:120400
Atelis Syndrome 2	Sacral dimple, Remnants of the hyaloid vascular system, Single transverse palmar crease, Microcep...	OMIM:620185
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic megacolon, Highly arc...	ORPHA:2318
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Microcephaly, Abnormal eyelash morphology, Optic atrophy, Sc...	ORPHA:2518
Wolfram Syndrome 1	Cataract, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atr...	OMIM:222300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly...	OMIM:617527
Chromosome Xp11.3 Deletion Syndrome	Cataract, Microcephaly, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Ro...	OMIM:300578
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Kyphosis, Osteoporosis, Microcornea, Long eyelashes, Motor axo...	ORPHA:48431
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly...	OMIM:311900
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Alg8-Cdg	Cataract, Small for gestational age, Optic atrophy, Talipes equinovarus, Hypoplasia of the corpus...	ORPHA:79325
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ...	ORPHA:414
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Hyperconvex fingernails, Aplasia/Hypoplasia of the cerebel...	ORPHA:192
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Partial agenesis ...	OMIM:610829
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Tortuosity of conjunctival vessels, Ankle clonus, Macular degeneration, Intention tremor	ORPHA:284289
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tricuspid regurgitation, Cerebellar vermis hypoplasia, Highly arched eyebrow, Post...	OMIM:618460
Monosomy 9Q22.3	Cataract, Large for gestational age, Palmar pits, Short neck, Accelerated skeletal maturation, Ky...	ORPHA:77301
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, H...	OMIM:616546
Aarskog-Scott Syndrome	Finger syndactyly, Genu recurvatum, Single transverse palmar crease, Camptodactyly of finger, Sho...	ORPHA:915
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Microcephaly, Abnormal hair morphology...	ORPHA:64754
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Abnormal ...	ORPHA:2332
Trisomy 18	Microcornea, Holoprosencephaly, Abnormal toenail morphology, Iris coloboma, Bilateral single tran...	ORPHA:3380
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the...	ORPHA:588
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc...	ORPHA:54
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Cataract, Small for gestational age, Single transverse palmar creas...	OMIM:123450
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th...	ORPHA:370010
Hermansky-Pudlak Syndrome 6	Epistaxis, Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation ...	OMIM:614075
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Papilledema, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteol...	ORPHA:371428
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Optic atrophy, Abnormal form of the vertebral bodies, Umbilical hernia...	ORPHA:93399
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic...	OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Optic atrophy, Developmental cataract...	OMIM:613154
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Kyphosis, Delayed skeletal matura...	ORPHA:812
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Optic atrophy, Ect...	OMIM:618727
Coach Syndrome 1	Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal h...	OMIM:216360
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Joint laxity, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypop...	OMIM:620330
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Optic ...	OMIM:268315
Chops Syndrome	Curly hair, Cataract, Thick hair, Microcephaly, Synophrys, Optic atrophy, Obesity, Coarse hair, L...	OMIM:616368
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly	OMIM:257910
Oculodentodigital Dysplasia	Brittle hair, Abnormal form of the vertebral bodies, Microcornea, Sparse hair, Clinodactyly of th...	ORPHA:2710
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Abnorma...	ORPHA:464306
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and ...	ORPHA:1190
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,...	OMIM:619539
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Increased bone mineral density, Telangiec...	ORPHA:902
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Hip dysplasi...	OMIM:614576
4H Leukodystrophy	Cataract, Tremor, Optic atrophy, Hypoplasia of the corpus callosum, Dystonia	ORPHA:289494
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Proximal placement of thumb, Microcephaly, Abnormal thum...	ORPHA:94065
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic fingernail, Cataract, Microcephaly, Hypoplastic toenails, Optic atrophy, Low anterior...	OMIM:220500
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Microc...	ORPHA:97297
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Polydactyly, Macular atrophy	OMIM:616307
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Zygomycosis	Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Epistaxis, Hematemesis, Myocarditi...	ORPHA:73263
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Asti...	OMIM:619471
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Catarac...	ORPHA:99956
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Basal Cell Nevus Syndrome 1	Vertebral fusion, Cataract, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Hy...	OMIM:109400
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia, Failure to thrive	ORPHA:95496
Isolated Atp Synthase Deficiency	Cataract, Microcephaly, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Dystonia, Hypertrophic...	ORPHA:254913
Kapur-Toriello Syndrome	Short neck, Retinal coloboma, Microphthalmia, Failure to thrive, Iris coloboma	ORPHA:2328
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, S...	ORPHA:1445
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary...	OMIM:610651
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Retinal coloboma, Macular coloboma	OMIM:107550
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Metaphyseal widening, Tibial bowing, Iris atrophy, Osteoporosis, Increased susceptibi...	OMIM:259770
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ab...	ORPHA:2886
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma...	OMIM:614077
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Short neck, Pigmentary retinopathy, Hypopla...	OMIM:614230
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ...	ORPHA:87
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p...	ORPHA:65759
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Retinal telangiectasia, Tremor, Premature graying of hair, Intestinal bleeding, Spars...	OMIM:612199
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Microcephaly, Kyphosis, Achille...	OMIM:606612
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Attenuation of retinal blood vessels, Cataract, Rhizomelia, Supernumerary nipple, Short iliac bon...	OMIM:614376
Vici Syndrome	Hypopigmentation of hair, Cerebellar vermis hypoplasia, Cataract, Macular atrophy, Albinism, Micr...	OMIM:242840
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Cerebellar vermis hypoplasia, Small for gestational age, Cataract,...	OMIM:619869
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormality of...	OMIM:184705
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Retinoschisis, Action tremor	OMIM:615651
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Postaxial polydactyly, ...	OMIM:619562
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillum...	OMIM:619172
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Supernumerary nipple, Widow's peak, Supernumerary ribs, Six lumbar vertebrae, J...	OMIM:619122
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Werner Syndrome	Low back pain, Cataract, Osteoporosis, Reduced bone mineral density, Alopecia of scalp, Retinal d...	OMIM:277700
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Short thumb...	OMIM:263750
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hy...	OMIM:619841
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism	OMIM:614073
Cockayne Syndrome A	Dry hair, Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges of the hand, ...	OMIM:216400
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Microcephaly, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos, ...	OMIM:619318
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Axonal loss, Dela...	ORPHA:404454
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Hypoplasia of the brainstem, Hypopigmentation of the skin, Dandy-Walker m...	OMIM:251300
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Polydactyly, Tali...	OMIM:613885
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Microcephaly, Ocular albinism, Hypopigmented skin patch...	ORPHA:999
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Low anterio...	OMIM:615761
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Koolen-De Vries Syndrome	Prominent fingertip pads, Iris hypopigmentation, Vertebral fusion, Prominent metopic ridge, Hypot...	OMIM:610443
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, ...	OMIM:244600
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizomelia, Sparse eyebrow, Ep...	OMIM:302960
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Decreased nerve conduction velocity, ...	OMIM:214500
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Cataract, Morning glory anomaly, Corpus callosum atrophy, Optic atrophy, Tempor...	ORPHA:98673
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Prominent metopic ridge, Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, T...	OMIM:619721
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Retinal vein occlusion, Pseud...	OMIM:177650
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability, Microcephaly	OMIM:251250
Intellectual Developmental Disorder, Autosomal Recessive 78	Optic neuropathy, Kyphoscoliosis, Microcephaly, Delayed skeletal maturation, Clinodactyly of the ...	OMIM:620237
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Agenesis of corpus callosum...	OMIM:614866
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Sclerocornea, Microcornea, Coloboma, Clinodactyly ...	OMIM:607932
Marcus-Gunn Syndrome	Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly	ORPHA:91412
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Anophthalmia, Foot joint contracture, Hypermelanotic macule,...	ORPHA:90321
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma, Deep palmar crease	OMIM:600251
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short neck, Short metatarsal, Macular degeneration, Clinodactyly of the 5th finger, S...	OMIM:266920
Neurofibromatosis Type 1	Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofibroma, Genu varum, ...	ORPHA:636
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Microcephaly, Abnormal thumb...	ORPHA:2719
Viss Syndrome	Epidural hemorrhage, Generalized joint laxity, Long toe, Joint laxity, Alopecia, Arachnodactyly, ...	OMIM:619472
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia	OMIM:602501
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cerebra...	OMIM:618659
Zellweger Syndrome	Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Microcephaly...	ORPHA:912
Familial Multiple Lipomatosis	Bowing of the long bones, Accelerated skeletal maturation, Chorioretinitis, Coloboma, Hypoplasia ...	ORPHA:199276
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Microcornea, Coloboma, Iris transillumination defect, O...	OMIM:617306
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy, Cataract, Tremor	ORPHA:79095
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Anophthalmia, Os...	OMIM:305600
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Subcortical cereb...	ORPHA:309288
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Obesity	OMIM:612291
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Short nail, Micromelia, Short neck, Microcephaly, Cerebral atrophy, Microco...	ORPHA:1675
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Polydactyly, Rod-cone dystrophy	OMIM:615989
Cockayne Syndrome Type 3	Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Retinal degen...	ORPHA:90324
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Rod-cone dystrophy, Cataract	OMIM:614879
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Short toe, 2-3 toe syndactyly,...	OMIM:139210
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H...	ORPHA:93315
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the p...	OMIM:616975
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Single transverse palmar crease, Highly arched eyebrow, Microcephaly, Synophrys, Partial absence ...	ORPHA:329224
Mucopolysaccharidosis Type 3	Synophrys, Flexion contracture, Atrioventricular block, Abnormal form of the vertebral bodies, Re...	ORPHA:581
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy, Global...	OMIM:616811
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Delayed skeletal maturation, ...	OMIM:617927
Ramon Syndrome	Optic disc pallor, Kyphosis, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly, Scoliosis,...	OMIM:266270
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Ulnar deviation of the hand, Cataract, Single transverse palmar crease, Rocker...	OMIM:214100
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Single transverse palmar crease, Sclerocornea, Microcephaly, Junctional ectopic tachyca...	OMIM:309801
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Opto-chiasmatic atrophy, Cardiomyopathy	OMIM:620089
Mevalonic Aciduria	Optic disc pallor, Agenesis of cerebellar vermis, Failure to thrive in infancy, Cataract, Kyphosc...	OMIM:610377
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short neck, Sparse hair, Clinodactyly of the...	OMIM:115150
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Delayed skeletal maturation, Low anterior hairline, Premature graying of ...	ORPHA:769
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa...	ORPHA:90652
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Iris transillumination defect	OMIM:614074
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Short neck, Coloboma, Secondary microcephaly, Microphthalmia, Agenesis of ...	OMIM:614583
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibial bowin...	ORPHA:500095
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Re...	ORPHA:280921
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Postaxial polydactyl...	OMIM:619185
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Short neck, Microcephaly, Holoprose...	ORPHA:1587
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Phthisis bulbi, Broad is...	OMIM:619727
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis,...	OMIM:610756
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Delayed closure of the anterior fontanelle, Delayed skeletal maturatio...	ORPHA:231140
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Vestibular areflexia, Abnormal cardiovascular syst...	ORPHA:886
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
Diaphanospondylodysostosis	Short neck, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, ...	ORPHA:66637
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Widow's peak, Aplasia/Hyp...	ORPHA:391474
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Hemivertebrae, Low posterior hairline, Coloboma, Pulmonic stenosis, In...	OMIM:220210
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Hydrocephalus, Bifid thoracic vertebrae, Foot polydactyly, Chorioretinal co...	ORPHA:268249
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Sclerocornea, Abnormal form of the vertebral bodies, Hol...	ORPHA:818
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Accelerated skeletal maturation, Vertebral segmentation defect, Nar...	OMIM:312870
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ...	OMIM:617926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Retinal dystrophy, Cataract, Hydrocephalus, Buphthalmos, Hypoplasia...	OMIM:616538
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, Hydrocephalus, White hair, Ocular albinism, Reduced bone mineral densit...	ORPHA:2720
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Small hand, Obesity, Osteoporosis, Short foot, Hip dysplasi...	ORPHA:398079
Cockayne Syndrome	Dry hair, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degenerat...	ORPHA:191
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cere...	OMIM:614815
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Wormian bones, Cerebellar vermis hypoplasia, Delayed clos...	ORPHA:2962
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short...	OMIM:212720
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormality of hair texture...	ORPHA:96169
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Cataract, Microcephaly, Optic atrophy, Hy...	ORPHA:543470
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Microcephaly, Abnormal hair whorl, ...	OMIM:616362
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Small for gestational age, Delayed closure of the an...	OMIM:127000
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Retinal dystrophy, Cataract, Buphthalmos, Hypoplasia of the corpus ...	ORPHA:370997
Alpha-Mannosidosis, Infantile Form	Osteopenia, Communicating hydrocephalus, Short neck, Cortical thickening of long bone diaphyses, ...	ORPHA:309282
Polydactyly, Postaxial, Type A8	Nail dysplasia, Postaxial polydactyly, Genu valgum	OMIM:618123
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short...	OMIM:178110
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Spina bifida, Ab...	ORPHA:894
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Abnormal chorioretinal morphology, Catarac...	ORPHA:564
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Blue irides, ...	OMIM:614613
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha...	OMIM:200990
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Widow's peak, Coloboma, Clinodactyly of the 5th finger, Microphthalmia, Conjuncti...	OMIM:167730
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu...	ORPHA:79430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Proximal muscle weakness in upper limb...	ORPHA:466768
Fanconi Anemia, Complementation Group C	Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, Flexion contra...	OMIM:227645
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly	OMIM:612913
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Hyperconvex fingernails, ...	OMIM:194190
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Microcephaly, Hydrocephalus, Short foot, Joint hy...	ORPHA:250989
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg...	OMIM:607131
Stevenson-Carey Syndrome	Coloboma, Hip dysplasia, Cerebellar hypoplasia, Scoliosis, Camptodactyly, Hypoplasia of the corpu...	OMIM:611961
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Premature...	OMIM:113620
Cowden Syndrome 5	Cataract, Kyphosis, Angioid streaks of the fundus, Palmoplantar hyperkeratosis, Scoliosis, Intent...	OMIM:615108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu...	OMIM:615287
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Microcephaly, Sparse eyebrow, Abnormal eyelash morphology, Widow's pea...	ORPHA:2399
Adams-Oliver Syndrome	Absent fingernail, Sparse hair, Encephalocele, Finger syndactyly, Alopecia, Portal hypertension, ...	ORPHA:974
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary re...	OMIM:240300
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax...	ORPHA:435638
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Osteoporosis, Cerebral atrop...	OMIM:213700
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Coloboma, Secondary microcephaly, Peters anomaly, Microphthalmia, Abnorm...	OMIM:618652
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Microcephaly, Alobar holoprosencephaly, Cerebellar hypop...	OMIM:157170
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Flexion contracture, Low anterior hairline, Coloboma, Hypoplasti...	OMIM:180849
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Kyphosis, Flexion contracture, Small hand, Increased body w...	ORPHA:398069
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Juvenile cataract, Abnormality of th...	ORPHA:404448
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Weight ...	ORPHA:679
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Cowden Syndrome 6	Cataract, Kyphosis, Angioid streaks of the fundus, Palmoplantar hyperkeratosis, Scoliosis, Intent...	OMIM:615109
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Microcephaly, Obesity, Patellar hypoplasia, Coloboma, Hypopl...	ORPHA:464288
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas...	OMIM:108720
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Cerebral atrophy, Astigm...	OMIM:617296
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Obesity, Small hand, Short foot, Abnormal ulnar metaphysis...	ORPHA:177910
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Highly arched eyebrow, Kyphosis, Low anterior hairline, 2-3 toe syndactyly...	ORPHA:404440
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Thauvin-Robinet-Faivre Syndrome	Bowing of the legs, Large for gestational age, Coloboma, Large hands, Retinal coloboma, Long hallux	OMIM:617107
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Vitritis, Abnormality of skin pigmentation, ...	ORPHA:2556
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Failure to...	OMIM:169400
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Retinal crystals,...	OMIM:259900
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Microcephaly, Flexion contracture, Low posterior hairline, C...	OMIM:616549
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Preaxial hand polydactyly,...	ORPHA:2211
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Telangiectasia of the skin, Hypermelanotic macul...	ORPHA:910
Nail-Patella Syndrome	Ridged nail, Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcorne...	OMIM:161200
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly, Scoliosis	OMIM:601357
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Schwartz-Jampel Syndrome	Micromelia, Short neck, Low anterior hairline, Coxa vara, Microcornea, Wrist flexion contracture,...	ORPHA:800
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short neck,...	OMIM:261540
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Microcephaly, Preaxial polydactyly...	OMIM:618142
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Posta...	OMIM:614175
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Short neck, Microcephaly, Sclerocornea, O...	ORPHA:251038
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly	OMIM:213010
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Microcephaly, Synophry...	OMIM:148050
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A...	OMIM:607155
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Facial palsy, Abnormal retinal vascular morpholo...	ORPHA:90340
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Coloboma, Clinodactyly of the 5t...	ORPHA:251028
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5...	OMIM:274000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Elsahy-Waters Syndrome	Cataract, Synophrys, Phthisis bulbi, Shortening of all phalanges of fingers, Cutaneous finger syn...	OMIM:211380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia, Microcephaly	OMIM:616910
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Short neck, Delayed ep...	OMIM:210710
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Squared iliac bones, H...	OMIM:618000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Abnormality of the cervical spine, Cataract, Broad hallux, Cardiac conduction abnor...	ORPHA:353281
Fanconi Anemia, Complementation Group D2	Small for gestational age, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, P...	OMIM:227646
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ecto...	OMIM:615877
Phakomatosis Pigmentokeratotica	Spina bifida, Raynaud phenomenon, Melanocytic nevus, Coloboma, Patchy alopecia, Pheochromocytoma,...	ORPHA:2874
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Microcephaly, Overweight, Syno...	OMIM:617796
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Hydrocephalus, Meningocele, Sclerosis of skull base, Coar...	OMIM:130720
Cowden Syndrome 1	Cataract, Kyphosis, Angioid streaks of the fundus, Palmoplantar hyperkeratosis, Scoliosis, Intent...	OMIM:158350
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpholo...	OMIM:163200
Fanconi Anemia, Complementation Group E	Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 p...	OMIM:600901
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Single transverse palmar crease, Synophrys, Abnormal curvature of the vertebral column...	OMIM:619475
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo...	OMIM:613686
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Small for gestational age, Short 5th finger, Polydactyly, Ectrodactyly, Small placent...	ORPHA:397590
Fanconi Anemia, Complementation Group A	Small for gestational age, Absent thumb, Absent radius, Short thumb, Microcephaly, Prolonged G2 p...	OMIM:227650
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Supernumerary ribs, Scoliosis, Butter...	OMIM:122600
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Angina pectoris, Transient ischemic a...	ORPHA:324
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephalus, Pol...	OMIM:175780
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Abnormally large globe, Kyphosis, Hydrocephalus, Knee ...	OMIM:603387
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Arthritis, Joint sw...	OMIM:186580
Alagille Syndrome 1	Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Chorioretinal atrophy,...	OMIM:118450
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Low anterior hairline, Bone pain, Coarse hair, Decreased skull...	ORPHA:955
22Q11.2 Deletion Syndrome	Short neck, Arachnodactyly, Spina bifida, Obesity, Multiple suture craniosynostosis, Joint hyperf...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ...	ORPHA:2756
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Microcornea, Short palm, Sparse hair, Abse...	OMIM:268400
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of...	ORPHA:895
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Microcephaly, Sy...	ORPHA:2884
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Tremor, Synophrys, Hypoplastic vertebral bodies, Sparse hair, ...	ORPHA:3455
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral...	OMIM:214300
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pig...	OMIM:219800
Syngap1-Related Developmental And Epileptic Encephalopathy	Tremor, Postaxial polydactyly, Microcephaly	ORPHA:544254
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Abnormal vertebral morphology, Cataract, Preaxial hand poly...	ORPHA:857
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Sacral dimple, Cataract, Postaxial polydactyly, Tapered finger, Small hand, Hip dis...	OMIM:300968
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Microcephaly, Optic atrop...	OMIM:617913
Branchio-Oculo-Facial Syndrome	Cataract, Preaxial hand polydactyly, Premature graying of hair, Coloboma, Microcornea, Fingernail...	ORPHA:1297
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho...	OMIM:309620
Arnold-Chiari Malformation Type I	Stiff neck, Areflexia of upper limbs, Myelopathy, Cranial nerve compression, Abnormality of the v...	ORPHA:268882
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synophrys, Os...	OMIM:617190
Kinsship Syndrome	Osteopenia, Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Microcephaly,...	OMIM:619297
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Ver...	ORPHA:373
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Agenesis of corpus callosum, Generalized hirsutism, Dilated cardi...	ORPHA:1606
Mend Syndrome	Sacral dimple, Cataract, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Long...	ORPHA:401973
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Hemivertebrae, Hand monodactyly, Coloboma, Holopro...	OMIM:214800
Brittle Cornea Syndrome 1	Joint laxity, Keratoconus, Congenital hip dislocation, Red hair, Keratoglobus, Abnormal cornea mo...	OMIM:229200
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Peters Plus Syndrome	Micromelia, Short neck, Microcornea, Clinodactyly of the 5th finger, Spina bifida occulta, Iris c...	ORPHA:709
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Optic atrophy, Cerebral atrophy, Head tremor	ORPHA:314404
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Microcephaly, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermob...	OMIM:617333
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Kabuki Syndrome	Highly arched eyebrow, Microcephaly, Hydrocephalus, Vertebral clefting, Small hand, Hip dislocati...	ORPHA:2322
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxial p...	OMIM:616300
Doors Syndrome	Abnormal finger morphology, Low anterior hairline, Hemivertebrae, Absent fingernail, Triphalangea...	ORPHA:79500
Helsmoortel-Van Der Aa Syndrome	Short 4th toe, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint laxity, Broad hall...	OMIM:615873
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Agenesis of corpus callosum, Iris coloboma, Dandy-Walker mal...	OMIM:249000
Legius Syndrome	Inguinal freckling, Cataract, Dystonia, Paroxysmal atrial tachycardia, Axillary freckling, Neurof...	ORPHA:137605
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Decreased nerve conduct...	ORPHA:167
Weill-Marchesani Syndrome 2	Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Delayed skeletal mat...	OMIM:608328
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia, Vertebral segmentatio...	ORPHA:531151
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic...	OMIM:618175
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Microcephaly, Fused cervical vertebrae, Abnormal hip bone mo...	ORPHA:2522
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio...	ORPHA:91500
Prader-Willi Syndrome	Osteopenia, Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Acromicr...	OMIM:176270
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Caudal Regression Syndrome	Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic ve...	ORPHA:3027
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce...	OMIM:277170
Degcags Syndrome	Osteopenia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying...	OMIM:619488
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Myocardial infarction,...	ORPHA:117
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Microcephaly, Reticulated skin pig...	OMIM:305000
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Choroidal neovascularization, Failure to thrive in infancy, Osteomalacia...	ORPHA:51608
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ...	ORPHA:53271
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Highly arched eyebrow, Tremor, C...	ORPHA:2754
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh...	OMIM:172800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervical spine, Joint la...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervical spine, Joint la...	ORPHA:353277
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpi...	ORPHA:1724
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia, Aprosencephaly, Talipes equinovarus, Craniosynostosis	OMIM:601374
Au-Kline Syndrome	Prominent metopic ridge, Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd...	OMIM:616580
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Sacral dimple, Cataract, Single transverse palmar crease, Microcephaly, Deep p...	OMIM:247200
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebra...	OMIM:118100
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Microcephaly, Coloboma, Hip dysplasia, Ver...	ORPHA:453499
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Abnor...	ORPHA:3472
Solitary Median Maxillary Central Incisor	Anophthalmia, Microcephaly, Coloboma, Holoprosencephaly, Microphthalmia, Cyclopia	OMIM:147250
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, B...	ORPHA:97360
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, Sparse hair, Phocomelia, Wrist f...	OMIM:268300
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Synophrys, Failure to thrive, Postaxial polydactyly	OMIM:615824
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Patchy reduction of bone mineral density...	ORPHA:221120
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Hypopigmentation of hair, Tremor, Cessation of head growth, Obe...	ORPHA:98794
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Cataract, Small for gestational age, Developmental ca...	OMIM:606721
Orofaciodigital Syndrome I	Syndactyly, Dry hair, Alopecia, Microcephaly, Myelomeningocele, Hydrocephalus, Cerebral atrophy, ...	OMIM:311200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Familial Congenital Mirror Movements	Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypoplastic toenails, Synophrys, Abnormal toenail morphology, Abnormal vertebral morphology, Abno...	ORPHA:444077
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Thick...	OMIM:617137
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem...	ORPHA:480880
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Short neck, Microcephaly, Small...	ORPHA:177907
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Abnormal pupil morphology, Calcaneovalgus deformity, Flexion contra...	ORPHA:261552
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Myelomen...	ORPHA:3440
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Spina bifida occulta, Low posterior hairline, Fused cervical vertebrae, Cafe-au-lai...	OMIM:619227
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Widow's peak, Hyperext...	OMIM:227330
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Cerebral atrophy, Hand polydactyly, Foot polydactyly, Shor...	OMIM:258860
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor...	OMIM:304120
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Astigmatism, Short femoral neck, ...	OMIM:617159
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Flexion contracture, Agenesis of corpus c...	ORPHA:261537
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplas...	OMIM:617925
Neu-Laxova Syndrome 1	Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus c...	OMIM:256520
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Anteri...	OMIM:216340
Renpenning Syndrome 1	Brittle hair, Cataract, Microcephaly, Cerebral atrophy, Coloboma, Sparse hair, Scoliosis, Camptod...	OMIM:309500
Mullegama-Klein-Martinez Syndrome	Facial palsy, Curly eyelashes, Microcephaly, Low anterior hairline, Polydactyly, Scoliosis, Clino...	OMIM:301022
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, Sagi...	OMIM:614099
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Congenital Ptosis	Congenital Horner syndrome, Prominent metopic ridge, Congenital facial diplegia, Piebaldism, Asti...	ORPHA:91411
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:98754
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Preaxial polydactyly, Low anterior hairline, Coxa va...	OMIM:614976
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:177901
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Cataract, Microcephaly, Astigmatism, Hyperpigmentation of the skin	OMIM:619268
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Flexion contracture, Agenesis of corpus c...	ORPHA:2152
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Sparse eyelashes, Craniosynostosis, Short neck, Sparse eyeb...	OMIM:613610
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Hypoplastic toenails, Aqueduc...	OMIM:306955
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing...	ORPHA:672
Cardioacrofacial Dysplasia 1	Limb undergrowth, Nail dysplasia, Postaxial polydactyly, Genu valgum	OMIM:619142
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Microcephaly, Flexion contracture, Cerebral atrophy, Choreoathetosis,...	ORPHA:17
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short...	OMIM:613458
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Supernumerary nipple, Microcephaly, Microcornea, Ectopia pupilla...	OMIM:235730
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Polydactyly, Sparse lateral eyebrow	ORPHA:314655
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosi...	OMIM:248340
Carney Complex, Type 1	Congestive heart failure, Schwannoma, Multiple lentigines, Pheochromocytoma, Red hair, Freckling,...	OMIM:160980
Okamoto Syndrome	Prominent metopic ridge, Abnormally large globe, Microcephaly, Extension of hair growth on temple...	ORPHA:2729
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Hypopigmentation of hair, Wormian bones, T...	ORPHA:565
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Aqueductal stenosis, Coloboma, Knee dislocation, Neonatal death, Syndactyly, Tricuspi...	OMIM:619534
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused cervical vertebrae, Jo...	OMIM:612852
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ...	OMIM:157800
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Large for gestational age, Microcephaly, Cuboid-shaped vertebra...	OMIM:612731
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micro...	ORPHA:83617
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Obesity, Abnormal neuron morphology	ORPHA:163681
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis...	ORPHA:1780
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ...	OMIM:192350
Alström Syndrome	Thoracic scoliosis, Accelerated skeletal maturation, Portal hypertension, Drusen, Short toe, Dila...	ORPHA:64
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor...	ORPHA:1974
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Coloboma, Synophrys, Cataract	OMIM:603457
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin ...	ORPHA:163746
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Choanal Atresia	Tracheomalacia, Polydactyly, Craniosynostosis	ORPHA:137914
Pmm2-Cdg	Osteopenia, Joint laxity, Failure to thrive, Multiple joint contractures, Angina pectoris, Perica...	ORPHA:79318
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos...	OMIM:610168
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Block vertebrae, Partial duplication of thumb phalanx, Hyd...	OMIM:164210
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849

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 Rpl24

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 Rpl24.

No publications found that use IMPC mice or data for Rpl24.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Rpl24^{tm374119(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rpl24^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rpl24^{tm104810(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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