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Gene: Sparc MGI:98373

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Gene Summary

Name:
secreted acidic cysteine rich glycoprotein
Synonyms:
BM-40,  osteonectin

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 2.85×10-12
abnormal eye morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.15×10-07
abnormal incisor color Sparctm1a(EUCOMM)Wtsi HOM Early adult 5.12×10-09
decreased body weight Sparctm1a(EUCOMM)Wtsi HOM   Early adult 1.03×10-05
decreased body length Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-08
abnormal coat/hair pigmentation Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.66×10-07
increased lactate dehydrogenase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.80×10-06
cataract Sparctm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-12
decreased bone mineral content Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.88×10-05
decreased bone mineral density Sparctm1a(EUCOMM)Wtsi HOM Early adult 3.51×10-05
increased circulating alanine transaminase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 6.32×10-06
increased circulating creatine kinase level Sparctm1a(EUCOMM)Wtsi HOM Early adult 5.99×10-06
abnormal tooth morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.92×10-07
abnormal coat/ hair morphology Sparctm1a(EUCOMM)Wtsi HOM   Early adult 7.70×10-06
increased circulating calcium level Sparctm1a(EUCOMM)Wtsi HOM   Early adult 3.54×10-05
abnormal tibia morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 8.44×10-07
abnormal humerus morphology Sparctm1a(EUCOMM)Wtsi HOM Early adult 4.22×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 50% (1 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Sparctm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI

View all 154 images

Sparctm1a(EUCOMM)Wtsi
eye, exophthalmos, cataracts, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
eye, cataracts, HOM, Male, WTSI

View all 20 images

Sparctm1a(EUCOMM)Wtsi
brain, megacephaly, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
megacephaly, brain, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Sparctm1a(EUCOMM)Wtsi
abnormal incisor color, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
abnormal incisor color, lower jaw incisor, HOM, Male, WTSI
Sparctm1a(EUCOMM)Wtsi
abnormal incisor color, HOM, Male, WTSI

Human diseases caused by Sparc mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Hip di... OMIM:616507

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth OMIM:615887
Book Syndrome
Premature graying of hair, Hypodontia OMIM:112300
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta ORPHA:79129
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Alopecia Antibody Deficiency
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... ORPHA:1006
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... ORPHA:93296
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Epidermolysis Bullosa, Junctional 4, Intermediate
Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,... OMIM:619787
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... OMIM:300424
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Waddling gait, Retinal detachment, Corneal opacity, Osteoporosis, Abnor... ORPHA:2788
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy OMIM:258870
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... ORPHA:2779
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Developmental cataract, Abnor... ORPHA:557003
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Schwannomatosis, Vestibular
Astrocytoma, Ataxia, Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Opt... OMIM:101000
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Bronchiectasis, Rod-cone dyst... OMIM:615434
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel... OMIM:104570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Cataract 42
Cataract, Developmental cataract OMIM:115900
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... ORPHA:2222
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-co... OMIM:204200
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails OMIM:190320
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Posterior subcapsular cataract, Cataract, Osteoporosis OMIM:616200
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Crani... ORPHA:436
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Rod-cone dystrophy, Achilles tendon contracture, Optic atrophy, Dysmetria, Subc... OMIM:612674
Uveal Melanoma
Retinal detachment, Iris melanoma, Choroidal melanoma, Inferior lens subluxation, Abnormal fundus... ORPHA:39044
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Trichomegaly
Cataract OMIM:190330
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Stickler Syndrome Type 1
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex... ORPHA:90653
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Joint hyperflexibility, Vitreoretinopathy, Astigmatism ORPHA:250984
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Abnormal dental morphology, Abnormali... ORPHA:69087
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Cataract OMIM:615995
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... ORPHA:2228
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Delayed pubic bone ossification, Cataract, Limited elbow extension ORPHA:1856
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility OMIM:604841
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibilit... ORPHA:85194
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Ataxia, Cerulean cataract OMIM:616732
Trichodental Dysplasia
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... ORPHA:248
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Taurodontism
Taurodontia OMIM:272700
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Full Nf2-Related Schwannomatosis
Astrocytoma, Remnants of the hyaloid vascular system, Glioma, Bilateral vestibular schwannoma, Re... ORPHA:637
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract, Ataxia OMIM:300619
Infantile Myofibromatosis
Hypercalcemia, Abnormal hair morphology, Bone cyst, Limitation of joint mobility, Osteolysis, Gin... ORPHA:2591
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract, High palate, Micrognathia OMIM:614882
Rubinstein-Taybi Syndrome 2
Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo... OMIM:613684
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Filippi Syndrome
2-4 toe syndactyly, Hypertrichosis, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion bor... OMIM:272440
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Cataract, Delayed patellar ossification, Abno... ORPHA:163649
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Oste... ORPHA:2848
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... OMIM:602080
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Spondyloocular Syndrome
Osteopenia, Retinal detachment, Cataract, Posterior subcapsular cataract, Unsteady gait, Thin bon... OMIM:605822
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... ORPHA:249
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c... OMIM:156400
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Kniest Dysplasia
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... ORPHA:485
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Abnormal... OMIM:163200
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,... OMIM:614564
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... OMIM:619073
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract OMIM:268020
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Elbow flexion contracture, Low anterior hairline, Devel... OMIM:618440
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Kniest Dysplasia
Hip contracture, Retinal detachment, Cataract, Tracheomalacia, Delayed epiphyseal ossification, L... OMIM:156550
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop... OMIM:267750
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, A... OMIM:241500
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... ORPHA:67036
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis OMIM:614732
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Abnormal oral cavity morphology, Narrow ... ORPHA:1355
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Cataract, Optic nerve hypoplasia, Flexion contracture, Epiphyseal stippling, Zonular ... OMIM:222765
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... ORPHA:93324
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... OMIM:602400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, H... OMIM:612462
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor OMIM:616390
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener... ORPHA:53
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormality of the ... ORPHA:93160
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hypero... ORPHA:2969
Eales Disease
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... ORPHA:40923
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th... OMIM:264700
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Joint hypermobility, Chorioretinal coloboma OMIM:617662
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail dystrophy, Enamel hypopla... OMIM:226650
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... OMIM:605282
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Ataxia, Joint stiffness, Osteoporosis, Increased bone d... OMIM:136300
Galactosemia Iv
Cataract OMIM:618881
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Increased... ORPHA:90354
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thu... ORPHA:476126
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Jalili Syndrome
Bone spicule pigmentation of the retina, Carious teeth, Retinal pigment epithelial mottling, Yell... OMIM:217080
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Abnormality of bone min... ORPHA:3156
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... ORPHA:79445
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... OMIM:261900
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Vacuolated lymphocytes, Flexion contracture, Optic atrophy, Macular degeneration, Retinal... OMIM:256730
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Usher Syndrome Type 2
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Microdon... ORPHA:231178
Alstrom Syndrome
Cone/cone-rod dystrophy, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephri... OMIM:203800
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Joint laxity, Posterior subcapsular cataract, Astigmatism, Bilateral camptodactyly OMIM:619234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity OMIM:613153
Alport Syndrome
Diffuse leiomyomatosis, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, ... ORPHA:63
Mucopolysaccharidosis Type 4
Bowing of the long bones, Corneal opacity, Abnormal dental enamel morphology, Coxa valga, Grayish... ORPHA:582
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Small fo... ORPHA:2980
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Abnormally ossified vertebrae, Cataract, Osteoarthritis, Limitation of joint ... ORPHA:1427
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration OMIM:267760
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Odontomicronychial Dysplasia
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... ORPHA:1811
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... OMIM:604625
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal... OMIM:618392
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit... OMIM:300602
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Posterior subcapsular cataract, Delayed ossification of carpal bones, Neutropenia, La... OMIM:271510
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Stickler Syndrome, Type I
Retinal detachment, Cataract, Joint stiffness, Osteoarthritis, Arthritis, Vitreoretinopathy, Memb... OMIM:108300
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S... ORPHA:289157
Mucopolysaccharidosis, Type Ivb
Joint laxity, Mandibular prognathia, Corneal opacity, Joint stiffness, Epiphyseal deformities of ... OMIM:253010
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Nail dysp... OMIM:175500
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Corneal opacity, Joint hypermobility, Sagittal craniosyn... ORPHA:536471
Nance-Horan Syndrome
Diastema, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Mulberry molar, Broa... OMIM:302350
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Skin rash, Camptodactyly of finger, Eosinophilia, ... ORPHA:464
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Comedonal acne,... OMIM:615147
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes equinovarus, H... ORPHA:85288
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration OMIM:614322
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, High anterior hairline, Sparse scalp hair OMIM:620062
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... OMIM:619719
2Q24 Microdeletion Syndrome
Cataract, Toe syndactyly, Camptodactyly of finger, Small for gestational age, Long fingers, Bulle... ORPHA:1617
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Cataract, Short toe, Osteoporosis, Short metatarsal,... OMIM:103580
Cataract 47
Microcornea, Cataract OMIM:612018
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Meningioma, Retina... OMIM:277700
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... OMIM:609115
Chanarin-Dorfman Syndrome
Subcapsular cataract, Ataxia OMIM:275630
Myotonic Dystrophy 2
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract OMIM:602668
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
3-Methylglutaconic Aciduria, Type Viib
Cataract, Ataxia, Flexion contracture, Recurrent pneumonia, Choreoathetosis, Leukopenia, Neutrope... OMIM:616271
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na... ORPHA:166108
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Antiphospholipid Syndrome, Familial
Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl... OMIM:107320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ... OMIM:600785
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Ataxia, Optic atrophy, Distal arthrogryposis OMIM:619833
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Joint stiffness, Corneal erosion, Macular degeneration, Reti... ORPHA:816
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai... ORPHA:2325
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Flexion contracture of the 4th toe, Microcornea, Ra... ORPHA:2712
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening OMIM:300261
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Mucopolysaccharidosis, Type Iva
Joint laxity, Mandibular prognathia, Coxa valga, Epiphyseal deformities of tubular bones, Grayish... OMIM:253000
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F... OMIM:259700
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Short metatarsal, Blue irides, Advanced ossification of ... OMIM:614613
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Exudative retinal detachment, Retinal fold, Subretinal ... ORPHA:209956
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Joint sti... ORPHA:394
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... ORPHA:1264
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, E... OMIM:612463
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Cortical subperi... ORPHA:94089
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th... OMIM:277440
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Skin rash, Ataxia, Fluctuating spleno... OMIM:610377
Rhizomelic Chondrodysplasia Punctata
Alopecia, Cataract, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiph... ORPHA:177
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Porphyria, Congenital Erythropoietic
Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Loss of eyelashes, Osteolysis, Corneal scarr... OMIM:263700
Kenny-Caffey Syndrome, Type 1
Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal... OMIM:244460
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... OMIM:615145
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joi... ORPHA:2741
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... ORPHA:899
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe... OMIM:618363
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Arthritis, Anemia ORPHA:375
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Abnormal fingernail morphology, Abnormality of the dentition ORPHA:2278
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... OMIM:257980
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Thick eyebrow, Sandal gap, Carious teeth, Overweight,... OMIM:619229
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Papillorenal Syndrome
Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi... OMIM:120330
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Eem Syndrome
Finger syndactyly, Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth... ORPHA:1897
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Iris coloboma ORPHA:2143
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi... ORPHA:369837
Lowry-Maclean Syndrome
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar... ORPHA:2409
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Vacuolated lymphocytes, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Retinal degene... OMIM:256731
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short metacarpal... ORPHA:79444
Cohen Syndrome
Short metacarpal, Bone spicule pigmentation of the retina, Thick eyebrow, Small for gestational a... OMIM:216550
Zika Virus Disease
Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Macular atrophy, Thrombocytopenia, Ret... ORPHA:448237
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Retinal detachment, Distal joint laxity, Generalized joint laxity, Recurrent pneumoni... ORPHA:1900
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Schwartz-Jampel Syndrome, Type 1