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Gene: Ppat MGI:2387203

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Gene Summary

Name:
phosphoribosyl pyrophosphate amidotransferase
Synonyms:
5730454C12Rik

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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
corneal vascularization Ppatem1(IMPC)Tcp HET   Early adult 4.71×10-05
iris synechia Ppatem1(IMPC)Tcp HET Early adult 1.23×10-05
abnormal placement of pupils Ppatem1(IMPC)Tcp HET Early adult 3.07×10-05
abnormal retina blood vessel morphology Ppatem1(IMPC)Tcp HET Early adult 3.10×10-05
irregularly shaped pupil Ppatem1(IMPC)Tcp HET Early adult 3.80×10-05
abnormal retina morphology Ppatem1(IMPC)Tcp HET Early adult 3.98×10-06
fused cornea and lens Ppatem1(IMPC)Tcp HET Early adult 1.23×10-05
preweaning lethality, complete penetrance Ppatem1(IMPC)Tcp HOM   Early adult 0.00
abnormal iris pigmentation Ppatem1(IMPC)Tcp HET Early adult 1.23×10-05
abnormal iris morphology Ppatem1(IMPC)Tcp HET Early adult 7.40×10-05
impaired pupillary reflex Ppatem1(IMPC)Tcp HET Early adult 4.97×10-05
cataract Ppatem1(IMPC)Tcp HET   Early adult 1.21×10-05
abnormal optic disk morphology Ppatem1(IMPC)Tcp HET Early adult 2.55×10-05
decreased hematocrit Ppatem1(IMPC)Tcp HET   Early adult 5.36×10-05
embryonic lethality prior to organogenesis Ppatem1(IMPC)Tcp HOM   E9.5 0.00
persistence of hyaloid vascular system Ppatem1(IMPC)Tcp HET   Early adult 7.90×10-05
increased exploration in new environment Ppatem1(IMPC)Tcp HET Early adult 2.23×10-07
increased mean corpuscular hemoglobin concentration Ppatem1(IMPC)Tcp HET   Early adult 2.30×10-05
abnormal cornea morphology Ppatem1(IMPC)Tcp HET Early adult 2.42×10-05
abnormal sternum morphology Ppatem1(IMPC)Tcp HET Early adult 0.00
abnormal lens morphology Ppatem1(IMPC)Tcp HET Early adult 2.65×10-06
mydriasis Ppatem1(IMPC)Tcp HET Early adult 1.23×10-05

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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.

Eye Morphology

Images Slit Lamp

108 Images

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Eye Morphology

Images Ophthalmoscopy

97 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Ppat mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... ORPHA:85167
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract, Chorioretinal coloboma OMIM:274205
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract OMIM:300719
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae, Cognitive impairment ORPHA:1885
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Clinodactyly, 3... OMIM:618727
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Brachydactyly OMIM:615995
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Woolly Hair
Hypopigmentation of hair, Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista... ORPHA:2513
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Oliver-Mcfarlane Syndrome
Peripheral axonal neuropathy, Central heterochromia, Pigmentary retinopathy, Retinal degeneration OMIM:275400
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Leukoencephalopathy With Vanishing White Matter 2
Memory impairment, Cataract, Optic atrophy OMIM:620312
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Usher Syndrome Type 3
Depression, Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal vascular morphology... ORPHA:1390
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Cataract, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... OMIM:221900
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per... ORPHA:101082
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertroph... OMIM:204200
Phenylketonuria
Cataract, Blue irides, Depression, Irritability, Attention deficit hyperactivity disorder, Genera... OMIM:261600
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb... ORPHA:280921
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ectopia pupillae, 3-4 finger s... OMIM:615877
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Riboflavin Transporter Deficiency
Optic disc pallor, Facial palsy, Tremor, Abnormal cranial nerve morphology, Hypertension, Abnorma... ORPHA:97229
Usher Syndrome Type 1
Depression, Cataract, Iris hypopigmentation ORPHA:231169
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Progressive cataract, Optic nerve dysplasia, Development... OMIM:246000
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis OMIM:156850
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... OMIM:259720
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Motor axonal neuropathy, Mydriasis ORPHA:247815
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, ... OMIM:175780
Serotonin Syndrome
Tachycardia, Confusion, Tremor, Mental deterioration, Irritability, Hypertension, Hypotension, Ab... ORPHA:43116
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Depression, Dementia, Cognitive impairment, Sensory axonal neuropathy ORPHA:329314
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... ORPHA:2119
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Intestinal Botulism
Mydriasis ORPHA:178481
Cataract 42
Cataract, Developmental cataract OMIM:115900
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Hypopigme... ORPHA:177910
2Q24 Microdeletion Syndrome
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... ORPHA:1617
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Ermine Phenotype
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis... ORPHA:999
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs OMIM:219250
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Hyperlysinemia, Type I
Cognitive impairment, Short attention span, Anemia, Ectopia lentis OMIM:238700
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Trichomegaly
Cataract OMIM:190330
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614882
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy OMIM:183800
Dysequilibrium Syndrome
Cataract ORPHA:1766
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Arachnodactyly, Abnormality of neutrophils, White hair, Ocular albinism, Abnormal hip b... ORPHA:2720
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis,... OMIM:278730
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cataract, Chorioretinal coloboma ORPHA:2489
Woolly Hair Nevus
Brachydactyly, Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca... OMIM:617388
Ceroid Lipofuscinosis, Neuronal, 9
Psychomotor deterioration, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Diminished ability to concentrate, Blue irides OMIM:615516
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Botulism
Arrhythmia, Mydriasis ORPHA:1267
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Optic neuropathy, Optic atrophy, Broad ischia, Diaphyseal dysplasia, Short... OMIM:619727
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Inhalational Botulism
Mydriasis ORPHA:254504
Infant Botulism
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis ORPHA:178478
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... ORPHA:79432
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Foodborne Botulism
Arrhythmia, Mydriasis ORPHA:228371
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platele... OMIM:619172
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Partial albinism, Camptodactyly of finger, Blue irides, Hypopigmented skin... OMIM:148820
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Miller Fisher Syndrome
Anisocoria, Facial palsy, Mydriasis ORPHA:98919
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma OMIM:615147
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility OMIM:615225
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Galactosemia Iv
Cataract OMIM:618881
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Irregular hyperpigme... ORPHA:2885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht... OMIM:212550
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, Ocular albinism, Ir... OMIM:614074
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Mucolipidosis Iv
Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea... OMIM:252650
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Clinodactyly of the 5th finger, G... OMIM:617306
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... OMIM:193510
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... ORPHA:3205
Galactosemia Ii
Cataract OMIM:230200
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Congenital miosis OMIM:108650
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... OMIM:132450
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Arachnoid Cyst
Facial palsy, Subarachnoid hemorrhage, Cranial nerve compression, Depression, Social and occupati... ORPHA:2356
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Hermansky-Pudlak Syndrome 9
Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypopigmentation of the skin, Thromb... OMIM:614171
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Linear Verrucous Nevus Syndrome
Short metacarpal, Cataract, Toe syndactyly, Abnormal cornea morphology, Mental deterioration, Ret... ORPHA:2611
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Contracture of the proximal interphalangeal joint of the 4th finger, Ectop... OMIM:618223
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Heterochromia iridis, Cognitive impairment ORPHA:90646
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma... OMIM:614077
Nephronophthisis 11
Anisocoria, Anemia, Retinal degeneration OMIM:613550
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia ORPHA:2151
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Pituitary Apoplexy
Confusion, Hypertension, Normochromic anemia, Hypotension, Mydriasis ORPHA:95613
Wyburn-Mason Syndrome
Epistaxis, Cerebral hemorrhage, Subarachnoid hemorrhage, Irritability, Retinal vascular malformat... ORPHA:53719
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Cone-shaped epiphysis, Hyperten... ORPHA:3156
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... ORPHA:2714
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Metatarsus adductus, Optic nerve dysplasia, Pigmentary retinopathy, H... OMIM:214110
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Tremor, Depression, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor OMIM:614307
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Developmental And Epileptic Encephalopathy 35
Irritability, Cataract, Limb tremor, Cardiomyopathy OMIM:616647
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Blue irides, Short metatarsal, Advanced ossification of carpal bones, Cone-shap... OMIM:614613
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened e... ORPHA:1856
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Depression, Astigmatism, Optic atrophy, Genu valgum OMIM:248000
Autosomal Recessive Stickler Syndrome
Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Vitreoretinopathy, Astigmatism, ... ORPHA:250984
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, O... ORPHA:2719
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Ep... ORPHA:912
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Splenomegaly, Athetosis, Iris hypopigmentation ORPHA:834
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Cataract, Small hand OMIM:300261
Alexander Disease
Microcoria OMIM:203450
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... OMIM:214500
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Congenital Microcoria
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... ORPHA:566
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:300915
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo... OMIM:610023
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Alternating Hemiplegia Of Childhood
Progressive neurologic deterioration, Cardiac conduction abnormality, Tremor, Abnormal T-wave, Ch... ORPHA:2131
Albinism, Ocular, Type I
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Cataract ORPHA:85288
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Usher Syndrome Type 2
Depression, Cataract, Iris hypopigmentation ORPHA:231178
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... OMIM:158310
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Broad thumb ORPHA:3173
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Coxa valga, Splenomegaly,... ORPHA:404454
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Biemond Syndrome Ii
Preaxial hand polydactyly, Iris coloboma OMIM:210350
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract ORPHA:324416
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology ORPHA:370091
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... ORPHA:1764
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... ORPHA:225
Edinburgh Malformation Syndrome
Brushfield spots, Long fingers, Slender finger, Ulnar deviation of finger ORPHA:1895
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Dermoids Of Cornea
Corneal opacity OMIM:304730
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma ORPHA:1791
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Confusion, Abnormal cranial nerve morpho... ORPHA:79138
Revesz Syndrome
Aplastic anemia, Progressive neurologic deterioration, Fine, reticulate skin pigmentation, Leukoc... OMIM:268130
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Achondrogenesis Type 2
Retinal detachment, Cataract, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification,... ORPHA:93296
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... OMIM:169550
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Camptodactyly of finger ORPHA:1466
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Short ... ORPHA:3163
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Bardet-Biedl Syndrome 9
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty... OMIM:615986
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Proximal femo... ORPHA:168549
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A... ORPHA:290
Piebald Trait
Aganglionic megacolon, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Wh... OMIM:172800
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
1Q21.1 Microduplication Syndrome
Hip dysplasia, Cataract, Hip dislocation, Attention deficit hyperactivity disorder ORPHA:250994
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Tonne-Kalscheuer Syndrome
Tremor, Blue irides, Broad thumb, Brachydactyly OMIM:300978
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract, Dementia OMIM:136300
Spastic Paraplegia 5A, Autosomal Recessive
Postural tremor, Cataract, Optic atrophy, Cognitive impairment OMIM:270800
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Poliosis, Hypopigmented skin patches, Premature graying of hair, Co... ORPHA:3437
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Hyperpigmentation of the skin, Optic atrophy, Anisocoria, Abnormal auton... OMIM:231550
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614876
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of thumb, Microc... ORPHA:139471
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, Ocular albinism OMIM:614073
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, Blue... ORPHA:3041
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Optic di... ORPHA:233
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cln3 Disease
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Depression, Pigmentary r... ORPHA:228346
Griscelli Syndrome
Abnormality of neutrophils, Silver-gray hair, Splenomegaly, White hair, Hypopigmented skin patche... ORPHA:381
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology, Iris coloboma, Chorioretinal coloboma ORPHA:195
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor morphology OMIM:604841
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Abnormal epiphysis morphology, ... ORPHA:90653
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Developmental And Epileptic Encephalopathy 73
Irritability, Hip dysplasia, Cataract OMIM:618379
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract OMIM:278780
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, Abnormal pu... ORPHA:45358
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Hypomelanosis Of Ito
Syndactyly, Cataract, Macular hypopigmented whorls, streaks, and patches, Hand polydactyly, Radia... OMIM:300337
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Chorioretinal coloboma OMIM:611638
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... OMIM:267750
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Retinal... ORPHA:166011
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration OMIM:267760
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... ORPHA:79430
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Coloboma, Spotty hyperpigmenta... ORPHA:324737
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Brushfield spots, Hypopigmented skin patches, Abnormal epiphysis morphol... ORPHA:1784
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy, Depression OMIM:614296
Pellagra-Like Syndrome
Cataract, Confusion OMIM:260650
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... ORPHA:91500
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Coloboma, Radioulnar synostosi... ORPHA:921
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Wildervanck Syndrome
Facial palsy, Lens subluxation, Pseudopapilledema ORPHA:3456
Trisomy 9P
Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly ORPHA:236
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Scheie Syndrome
Aortic regurgitation, Corneal opacity, Genu valgum, Aortic valve stenosis, Retinal degeneration OMIM:607016
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Triple A Syndrome
Generalized hyperpigmentation, Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Retinitis Pigmentosa 66
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy, Cognitive impairment OMIM:616680
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplas... OMIM:617183
Trichinellosis
Facial palsy, Confusion, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Irrita... ORPHA:863
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Tremor, Optic atrophy, Limited mobility of ... OMIM:222300
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia ORPHA:272
Kid Syndrome
Equinus calcaneus, Keratitis, Coxa valga, Corneal erosion, Delayed pubic bone ossification, Patel... ORPHA:477
Infantile Refsum Disease
Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Abnormal epiphysis morphology, Arrhythmia,... ORPHA:772
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Abnormal iris pigmentation, Abnormal left ventricular function OMIM:132900
Scorpion Envenomation
Bundle branch block, Tachycardia, Miosis, Cardiac conduction abnormality, Tremor, Congestive hear... ORPHA:466677
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy OMIM:610951
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Cataract 48
Cataract, Miosis OMIM:618415
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Osteolytic defects of the phalanges of the hand, Limbal stem cel... OMIM:618175
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Confusion, Hepa... ORPHA:309288
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract, Short 5th metacarpal, Brachydactyly ORPHA:1264
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment ORPHA:2246
Alagille Syndrome
Keratoconus, Hypoplasia of the ulna, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupi... ORPHA:52
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Accessory spleen, Rieger anomaly, Pseudoepiphyses of the metacarp... OMIM:194190
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Depression, Macular degeneratio... OMIM:256730
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Albinism, Ocular albinism, Absent foveal reflex, Macular h... OMIM:614075
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, F... OMIM:609033
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Elevated pulmonary artery pressure, Mydriasis OMIM:619351
Nance-Horan Syndrome
Microcornea, Retinal detachment, Short metacarpal, Cataract ORPHA:627
Morquio Syndrome C
Corneal opacity OMIM:252300
Piebaldism
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Piebaldism, Hypo... ORPHA:2884
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Abnormal met... ORPHA:284160
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Galactose Epimerase Deficiency
Splenomegaly, Cataract ORPHA:79238
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Brachydactyly ORPHA:2643
Refsum Disease, Classic
Short fourth metatarsal, Cataract, Miosis, Congestive heart failure, Cardiomyopathy, Arrhythmia, ... OMIM:266500
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Cataract OMIM:617393
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Aniridia 3
Aniridia, Cataract OMIM:617142
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Splenomegal... ORPHA:585
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Leukocoria, Co... ORPHA:1556
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregul... OMIM:602271
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Astigmatism OMIM:619328
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Split hand, Anisocoria, Hammertoe... ORPHA:90658
Distal Deletion 13Q
Aplasia/Hypoplasia of the thumb, Optic atrophy, Cognitive impairment, Abnormal metacarpal morphol... ORPHA:1590
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly OMIM:619420
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Cataract 47
Microcornea, Cataract OMIM:612018
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Macular degeneration, Cataract OMIM:619780
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism, Epistaxis ORPHA:352723
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Optic atrophy, Blue irides, Short... OMIM:101800
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract, Broad hallux, Broad thumb ORPHA:3433
Angelman Syndrome
Keratoconus, Optic disc pallor, Tremor, Optic atrophy, Astigmatism, Fair hair, Hypopigmentation o... ORPHA:72
Laurence-Moon Syndrome
Finger syndactyly, Cataract, Hand polydactyly, Iris coloboma, Brachydactyly ORPHA:2377
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... OMIM:615184
4H Leukodystrophy
Cataract, Tremor, Optic atrophy, Dystonia, Mental deterioration ORPHA:289494
Prune1-Related Neurological Syndrome
Retinopathy, Hypertrophic cardiomyopathy, Cataract, Optic atrophy ORPHA:544469
Facial Spasm
Anisocoria OMIM:134300
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Short palm ORPHA:85172
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Cataract, Choreoathetosis, Dystonia OMIM:614932
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Wilson-Turner Syndrome
Cataract, Tapered finger, Small hand, Short foot, Emotional lability ORPHA:3459
Noonan Syndrome 13
Overlapping toe, Tapered finger, Metatarsus adductus, Blue irides, Mitral regurgitation, Multiple... OMIM:619087
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia OMIM:180200
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Abnormality of skin pigmentation, Coloboma OMIM:612379
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c... ORPHA:158000
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Cognitive impairment ORPHA:588
Warburg Micro Syndrome 1
Microcornea, Overlapping toe, Optic atrophy, Developmental cataract OMIM:600118
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypertensive crisis, Cataract, Aganglionic megacolon, Arachnodactyly... ORPHA:567
Nail-Patella Syndrome
Keratoconus, Cataract, Glenoid fossa hypoplasia, Patellar aplasia, Antecubital pterygium, Patella... OMIM:161200
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Cataract, Tricuspid regurgitation, Brushfield spots, Metatarsus adductus, S... OMIM:614866
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Pulmonic ... OMIM:235730
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy OMIM:617481
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Chorioretinal coloboma OMIM:617662
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... OMIM:615145
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Optic atrophy, Depression, Focal dystonia, Irritability, Cognitive impairment, Limb dysto... ORPHA:216873
Congenital Varicella Syndrome
Cataract ORPHA:291
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Tremor, Depression, Attention deficit hyperactivity disorder,... ORPHA:79254
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Iris hypopi... ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, Smal... OMIM:257850
Neurofibromatosis Type 1
Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofibroma, Genu varum, ... ORPHA:636
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... ORPHA:1553
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ... ORPHA:363417
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, White hair, Hypo... ORPHA:894
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, H... ORPHA:496790
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, B lymphocytopenia OMIM:619851
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... OMIM:619260
Leber Hereditary Optic Neuropathy
Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascul... ORPHA:104
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration OMIM:615458
Marinesco-Sjögren Syndrome
Short palm, Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal f... ORPHA:559
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly ORPHA:1914
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Cataract, Morning glory anomaly, Optic atrophy, Dementia, Cognitive impairment... ORPHA:98673
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... ORPHA:1345
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Weill-Marchesani Syndrome
Cataract, Ectopia lentis, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve sten... ORPHA:3449
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Rocker bottom foot, Brushfield spots, Metatarsus adductus, Pigmentar... OMIM:214100
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Generalized dystonia, Optic di... OMIM:619389
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Microcornea, Abnormality of peripheral nerve conduction, Motor... ORPHA:48431
Baraitser-Winter Cerebrofrontofacial Syndrome
Transient ischemic attack, Duplication of thumb phalanx, Optic disc coloboma, Microcornea, Retino... ORPHA:2995
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Missing ribs, Optic atrophy, Abnormal rib morphology, Microcorne... ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma OMIM:613153
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Short toe, Cataract, Brachydactyly ORPHA:3085
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus ORPHA:3319
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... OMIM:300424
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Cataract OMIM:615352
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Intestinal Dysmotility Syndrome
Cataract OMIM:620045
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Cataract, Abnormal limb bone morphology, Progressive psychomotor deterioration, Epi... ORPHA:251009
Hemochromatosis, Type 4
Cataract, Hyperpigmentation of the skin, Cardiomyopathy, Arrhythmia, Anemia OMIM:606069
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Cataract, Tortuosity of conjunctival vessels, Intention tremor ORPHA:284289
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Broad finger, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Flexion contractur... ORPHA:2712
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Baralle-Macken Syndrome
Cafe-au-lait spot, Cataract, Dystonia, Tapered finger OMIM:619255
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Increased corneal thickness, Toe syndactyly, Duplication of thumb ... ORPHA:2363
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Blue irides, Limb tremor OMIM:105830
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Tremor, Depression, Hematochezia, Pigmentary retinopathy, Mental deterioration, Memory ... ORPHA:79095
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
Refsum Disease
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Miosis, Heart block, Splenomegal... ORPHA:773
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Irre... OMIM:252600
Sengers Syndrome
Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Mental deterioration, Pul... OMIM:212350
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... ORPHA:33445
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Pulmonic stenosis, Blue irides, Thrombocytopenia OMIM:610733
Atelis Syndrome 1
Cataract, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, Irregular hyper... OMIM:620184
Plague
Tachycardia, Hematemesis, Splenomegaly, Depression, Hypotension, Arrhythmia, Conjunctival hyperem... ORPHA:707
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma ORPHA:2791
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Genu valgum ORPHA:1381
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... ORPHA:899
Hermansky-Pudlak Syndrome 7
Ocular albinism, Epistaxis, Albinism OMIM:614076
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Abnormal tibia morphology, Patell... ORPHA:2614
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Sandal gap, Abnormal retinal vascular morphology, ... ORPHA:2715
Antiphospholipid Syndrome, Familial
Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl... OMIM:107320
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Hypermelanotic macule, Tapered finger, Irregular hyperpigmentation, Br... ORPHA:317
Trisomy 13
Cataract, Abnormal retinal vascular morphology, Postaxial hand polydactyly, Optic atrophy, Abnorm... ORPHA:3378
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Torticollis, Optic atrophy, Hip dislocation, Unilateral facial palsy, Astigmatism, Rod-cone dystr... OMIM:618547
Mevalonic Aciduria
Splenomegaly, Cataract ORPHA:29
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Cataract, Decreased number of large peripheral myelina... OMIM:162400
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... ORPHA:93400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Long hallux, Iris col... ORPHA:261552
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Congenital Disorder Of Glycosylation, Type Id
Long fingers, Optic atrophy, Clinodactyly, Iris coloboma, Clinodactyly of the 5th toe, Adducted t... OMIM:601110
Pseudopseudohypoparathyroidism
Short metacarpal, Cataract, Short metatarsal, Cognitive impairment, Brachydactyly OMIM:612463
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Hand tremor, Dementia, Head tremor, Mental deterioration OMIM:614409
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Cardiomyopathy OMIM:614879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Dystonia-Deafness Syndrome 1
Generalized dystonia, Cataract, Oculogyric crisis, Femoral retroversion, Hypoplastic scapulae, Le... OMIM:607371
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract, Intention tremor OMIM:224050
Cach Syndrome
Cataract, Progressive neurologic deterioration, Optic atrophy, Hepatosplenomegaly, Irritability, ... ORPHA:135
Merrf
Optic atrophy, Cognitive impairment ORPHA:551
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Cognitive impairment, Dystonia ORPHA:1171
Proximal Myotonic Myopathy
Cataract ORPHA:606
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Truncal titubat... ORPHA:88628
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Abnormal ... ORPHA:65759
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Optic atrophy, Limb tremor, Peripheral demyelination OMIM:614877
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma ORPHA:207
Autosomal Recessive Spastic Paraplegia Type 75
Temporal optic disc pallor, Astigmatism, Titubation ORPHA:459056
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Hip dysplasia, Astigmatism, Chorioretinal coloboma, Peters anomaly, Attention defi... ORPHA:494344
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Generalized dystonia, Hypoplastic scapulae, Femoral retroversion, Mental deterioration ORPHA:79107
Autosomal Recessive Spastic Paraplegia Type 46
Peripheral axonal neuropathy, Cataract, Dementia, Head tremor, Cognitive impairment ORPHA:320391
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Spinocerebellar Ataxia 7
Tremor, Optic atrophy, Macular degeneration, Pigmentary retinopathy, Mental deterioration OMIM:164500
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Supravalvar pu... OMIM:620185
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Cataract, Remnants of the hyalo... OMIM:619539
Metatropic Dysplasia
Cataract, Camptodactyly of finger, Abnormal rib morphology, Halberd-shaped pelvis, Clinodactyly o... ORPHA:2635
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Kniest Dysplasia
Retinal detachment, Hip contracture, Cataract, Dumbbell-shaped long bone, Delayed epiphyseal ossi... OMIM:156550
Congenital Disorder Of Glycosylation, Type Ii
Iron deficiency anemia, Cataract, Iris coloboma, Dystonia OMIM:607906
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Reduced systolic function, Microcytic anemia OMIM:618805
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening ORPHA:1513
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract, Dementia ORPHA:2047
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Waardenburg Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of skin ... ORPHA:3440
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cardiomyopathy, Cataract OMIM:301075
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Emotional... ORPHA:98890
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Cataract, Proximal placement of thumb, Abnormal rib morphology, Abnorma... ORPHA:93267
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Dementia, Optic atrophy OMIM:182830
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Stiff Skin Syndrome
Cataract, Camptodactyly OMIM:184900
Achromatopsia 3
Cataract OMIM:262300
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Dystonia ORPHA:101006
Neuraminidase Deficiency
Cataract, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Epiphyseal stippling, Car... OMIM:256550
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Alg8-Cdg
Cataract, Thrombocytopenia, Optic atrophy, Camptodactyly, Retinopathy, Anemia, Brachydactyly ORPHA:79325
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ... ORPHA:1352
Monilethrix
Cataract, Cognitive impairment ORPHA:573
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Cataract, Preaxial polydactyly ORPHA:64754
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Cataract, Coxa valga, Flat acetabular roof, Flattened epiphysis, Wide proxima... ORPHA:163649
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cardiomyopathy, Hypopigmentation of... ORPHA:1493
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Neurotrophic Keratopathy
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... ORPHA:137596
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... OMIM:609136
Isolated Atp Synthase Deficiency
Cataract, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Dystonia, Hypertrophic cardiomyopath... ORPHA:254913
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Attenuation of retinal blood vessels, Cataract, Short iliac bones, Metaphyseal widening, Short fo... OMIM:614376
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris c... ORPHA:959
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Genu valgum, Cataract, Hip dislocation, Developmental cataract ORPHA:436174
Hermansky-Pudlak Syndrome 10
Dystonia, Albinism, Splenomegaly, Ocular albinism, Neutropenia OMIM:617050
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Koolen-De Vries Syndrome
Cataract, Hip dislocation, Hip dysplasia, Pulmonic stenosis, Prominent fingertip pads, Fair hair,... OMIM:610443
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Gastrointestinal hemorrhage, Progressive neurologic ... ORPHA:247691
Muckle-Wells Syndrome
Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Uveitis, Conjunctivitis, Anemia ORPHA:575
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcorn... OMIM:243605
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar... OMIM:216900
Microphthalmia, Lenz Type
Finger syndactyly, Cataract, Camptodactyly of finger, Optic disc coloboma, Microcornea, Abnormal ... ORPHA:568
Warburg Micro Syndrome 3
Cataract, Miosis, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, C... OMIM:614222
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Warburg Micro Syndrome 2
Cataract, Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Clinodactyly of th... OMIM:614225
Prader-Willi Syndrome
Syndactyly, Hypopigmentation of hair, Acromicria, Small hand, Genu valgum, Short foot, Hip dyspla... OMIM:176270
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Optic atrophy, Attent... ORPHA:401777
Sialidosis Type 1
Cataract, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Tremor, Cherry red ... ORPHA:812
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Broad hallux, Overlapping toe, Microcytic anemia, Genu valgum, Abnormal optic disc morphology, De... ORPHA:293967
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dystonia OMIM:271930
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Cataract, Coxa valga, Optic atrophy, Irritability, Hammertoe, Hip dysplasia, ... OMIM:619833
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology ORPHA:250999
Collagenoma, Familial Cutaneous
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... OMIM:115250
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Cherry red spot of the macula ORPHA:93399
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract, Short distal phalanx of finger OMIM:302950
Kniest Dysplasia
Retinal detachment, Enlarged epiphyses, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous ... ORPHA:485
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Adams-Oliver Syndrome 2
Short middle phalanx of finger, Absent distal phalanges, Optic atrophy, Developmental cataract OMIM:614219
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Resting tremor, Cataract, Optic atrophy, Depression, Head tremor, Mental deterioration, Memory im... ORPHA:314404
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Short metacarpal, Cataract, Epiphyseal dysplasia, Sandal gap, Abnormal pelvis... ORPHA:1427
Kenny-Caffey Syndrome, Type 2
Papilledema, Developmental cataract, Retinal calcification, Thickened cortex of long bones, Anemi... OMIM:127000
Superficial Siderosis
Subarachnoid hemorrhage, Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of t... ORPHA:247245
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Cataract, Opto-chiasmatic atrophy, Cardiomyopathy OMIM:620089
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Tapered finger, Spotty hypopigmentation, Heart murmur, Short finger, H... ORPHA:1867
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Short sternum, Iris colo... OMIM:222448
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Anemia OMIM:607115
Frontonasal Dysplasia 1
Cataract, Postaxial hand polydactyly, Coloboma, Radial deviation of finger, Camptodactyly, Clinod... OMIM:136760
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormal metaphysis morphology, Cataract, Abnormal epiphysis morphology ORPHA:177
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Kapur-Toriello Syndrome
Cataract, Camptodactyly of finger, Short thumb, Retinal coloboma, Overlapping fingers, Iris colob... OMIM:244300
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Absent platelet dense granules, Albinism, Decreased CD4:CD8 ratio... OMIM:608233
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Cataract, Optic nerve hypoplasia, Epiphyseal stippling, Abnormal pelvic girdle bon... OMIM:222765
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Cataract, Cone-shaped epiphyses of the distal phalanges of the hand, Short palm OMIM:618958
Classic Galactosemia
Cataract, Postural tremor, Abnormal erythrocyte enzyme level, Depression, Attention deficit hyper... ORPHA:79239
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract, Abnormal rib morphology ORPHA:2772
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Irritabili... ORPHA:644
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Retinal ... OMIM:617052
Brittle Cornea Syndrome 1
Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn... OMIM:229200
Sclerosteosis
Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of... ORPHA:3152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Cataract, Retinal degeneration OMIM:615249
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Brachydactyly, Overlapping toe, Small hand, Short foot, Clinodactyly of... ORPHA:177907
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Optic disc coloboma, Irritability, Punctate keratitis ORPHA:92050
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Gorlin Syndrome
Cataract, Arachnodactyly, Melanocytic nevus, Iris coloboma, Brachydactyly ORPHA:377
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Cataract, Broad hallux, Dystonia OMIM:614105
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Tapered finger, Hypoplasia of the iris, Astigmatism, Metatarsus valgus, Megalocorne... ORPHA:2479
Werner Syndrome
Cataract, Elevated hemoglobin A1c, Retinal degeneration OMIM:277700
Usher Syndrome
Abnormality of retinal pigmentation, Cataract, Vestibular areflexia, Abnormal cardiovascular syst... ORPHA:886
Cataract 16, Multiple Types
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract OMIM:613763
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc... OMIM:249270
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Frontotemporal dementia, Cranial nerve compression, Congestive heart failure, Abnormal ... ORPHA:52430
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Vici Syndrome
Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Congestive heart failure, Dilated ... OMIM:242840
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Confusion, Depression, Abnormal left ventricular function, Irrit... ORPHA:36913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atr... ORPHA:49827
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Abnormal rib morph... ORPHA:534
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Freckling OMIM:610651
Leber Optic Atrophy And Dystonia
Optic atrophy, Athetosis, Dementia, Leber optic atrophy, Dystonia OMIM:500001
Oculocerebrofacial Syndrome, Kaufman Type
Chorioretinal dystrophy, Arachnodactyly, Optic atrophy, Microcornea, Abnormal optic nerve morphol... ORPHA:2707
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Depression, Cardiomyopathy, Dementia, Bradycardia, Arrhythmia, Sensory axonal neuropathy OMIM:609286
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Uvei... OMIM:186580
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Short metacarpal, Optic atrophy, Acetabular dysplasia, Broad thumb, Short distal ph... OMIM:201180
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctuating splenomegaly, Thrombocyto... OMIM:610377
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Depression, Pigmentary retinopathy, Dementia, Progressive languag... ORPHA:79264
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy, Depression OMIM:619425
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension OMIM:615510
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Cataract, Rocker bottom foot, Developmental cataract OMIM:610756
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Warburg Micro Syndrome 4
Microcornea, Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract OMIM:615663
Hypoparathyroidism, Familial Isolated, 1
Irritability, Cataract OMIM:146200
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells OMIM:614878
Oculodentodigital Dysplasia
Finger syndactyly, Cataract, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypop... ORPHA:2710
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Keratitis, Postaxial hand polydactyly, Hip dislocation, Hypertension, Ectr... OMIM:308205
Incontinentia Pigmenti
Uveitis, Abnormality of skin pigmentation, Finger syndactyly, Abnormal chorioretinal morphology, ... ORPHA:464
Brittle Cornea Syndrome
Hallux valgus, Retinal detachment, Arachnodactyly, Corneal dystrophy, Corneal erosion, Abnormalit... ORPHA:90354
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Microcornea, Clinodactyly of the 5th finger, G... OMIM:201000
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Optic disc coloboma, Hypoplasia of the iris, Short phalanx of finger, Brachydac... OMIM:600092
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Autosomal Recessive Progressive External Ophthalmoplegia
Abnormal retinal morphology, Facial palsy, Optic atrophy, Depression, Cardiomyopathy, Optic neuri... ORPHA:254886
Hsd10 Mitochondrial Disease
Progressive neurologic deterioration, Optic atrophy, Choreoathetosis, Hypertrophic cardiomyopathy... OMIM:300438
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Cataract, Tapered finger, Splenomegaly, Abnormality of skin pigmen... ORPHA:2930
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Wagro Syndrome
Cataract, Corneal opacity, Hypertension, Low frustration tolerance, Aniridia, Emotional lability OMIM:612469
Stickler Syndrome, Type I
Retinal detachment, Cataract, Arachnodactyly, Irregular femoral epiphysis, Vitreoretinopathy, Mem... OMIM:108300
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Dementia, Abnormality of cen... OMIM:213700
3Q29 Microduplication Syndrome
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Aniridia, Iris coloboma, Camptodactyly of toe ORPHA:251038
Full Schwannomatosis
Schwannoma, Cataract, Peripheral schwannoma, Bilateral vestibular schwannoma ORPHA:93921
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Cataract, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe s... OMIM:181270
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma ORPHA:2510
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Hypopigmented skin patches, Premat... ORPHA:163746
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, Irritability, Dystonia, Abnormal peripheral a... ORPHA:457205
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Prominent fingertip pads, Astigmatism, Optic atrophy, Dystonia OMIM:616875
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb... ORPHA:423479
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Tapered finger, Optic atrophy, Right bundle branch block, Mitral regurgi... OMIM:619576
Galactokinase Deficiency
Psychomotor deterioration, Nuclear cataract, Cataract, Hepatosplenomegaly ORPHA:79237
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir... ORPHA:98754
Sarcosinemia
Emotional lability, Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis ORPHA:3129
Marshall Syndrome
Retinal detachment, Cataract, Radial bowing, Lens luxation, Hypoplastic ilia, Coxa valga, Ulnar b... OMIM:154780
Down Syndrome
Aganglionic megacolon, Sandal gap, Brushfield spots, Hypoplastic iliac wing, Myeloproliferative d... OMIM:190685
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir... ORPHA:98793
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Osteolysis involving bones of the upper limbs, Atrioventricular block, Osteolysis in... ORPHA:371428
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Camptodactyly of finger, Abnormal retinal vascular morphol... ORPHA:354
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Cataract, Optic atrophy, Short 5th finger, Triphalangeal thumb, Clinodactyly of the 5th finger, L... OMIM:220500
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Decreased distal sensory nerve action potential, Tremor, Developmental glaucoma, Optic ... ORPHA:99956
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr... ORPHA:67036
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia, Hypopigmentation of the skin, Ir... ORPHA:177901
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Finger syndactyly, Arachnodactyly, ... ORPHA:193
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Weill-Marchesani Syndrome 2
Iridodonesis, Short metacarpal, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure... OMIM:608328
Cardiofaciocutaneous Syndrome 4
Cataract, Optic nerve hypoplasia, Multiple lentigines, Pulmonic stenosis, Cafe-au-lait spot OMIM:615280
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma OMIM:615219
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Neuhauser Syndrome
Iridodonesis, Arachnodactyly, Genu valgum, Hypoplasia of the iris, Megalocornea OMIM:249310
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... OMIM:598500
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, A... ORPHA:394
Bardet-Biedl Syndrome 20
Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Astigmatism, ... OMIM:619471
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, I... ORPHA:280679
Cinca Syndrome
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Uveitis, Abno... ORPHA:1451
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Bull's eye maculopathy, Acanthocytosis, Fractures of the long bones, Optic atrophy, Cra... ORPHA:157850
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Prominent fingertip pads, Astigmatism, Optic atrophy, Vitiligo ORPHA:480898
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, Bull's eye ma... OMIM:216550
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Cataract, Short attention span, Metatarsus adductus, Optic atrophy,... OMIM:123450
Alport Syndrome 2, Autosomal Recessive
Hypertension, Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cl... ORPHA:264450
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system physiology, Cogn... OMIM:146500
3-Methylglutaconic Aciduria, Type I
Short attention span, Optic atrophy, Athetosis, Dementia, Cognitive impairment, Dystonia OMIM:250950
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Stenosis of the medullary cavity of the long bones, Developmental cataract, Retinal ... ORPHA:93325
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Optic atrophy, Dementia, Abnormal autonomic nervous system physiology, Dystonia ORPHA:329284
Myotonic Dystrophy 1
Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Facial diplegia OMIM:160900
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Bardet-Biedl Syndrome 1
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic meg... OMIM:209900
Galactosemia I
Hemolytic anemia, Cataract OMIM:230400
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Keratitis, Retinal vascular ... OMIM:308300
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Heart murmur, Anisocoria, Tibial torsion OMIM:618653
3C Syndrome
Finger syndactyly, Missing ribs, Optic atrophy, Hand polydactyly, Abnormal hip bone morphology, C... ORPHA:7
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic me... OMIM:607323
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Splenomegaly, Optic atrophy, Anemia, Choreoathetosis, Cardiomyopathy, Neutropenia, Thro... ORPHA:79312
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Jaberi-Elahi Syndrome
Cataract, Tremor, Optic atrophy, Choreoathetosis, Dystonia OMIM:617988
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... ORPHA:1806
Harlequin Ichthyosis
Sudden cardiac death, Cataract, Foot polydactyly, Hand polydactyly ORPHA:457
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hyperpigmentation of the skin, Clubbing, Hematochezia, Clubbing of fingers, Anemia OMIM:175500
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Branchio-Oculo-Facial Syndrome
Cataract, Preaxial hand polydactyly, Microcornea, Premature graying of hair, Coloboma, Iris coloboma ORPHA:1297
Agel Amyloidosis
Deficit in phonologic short-term memory, Cataract, Facial palsy, Depression, Cardiomyopathy, Kera... ORPHA:85448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... OMIM:236670
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... OMIM:186500
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... OMIM:611490
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Optic atrophy OMIM:234050
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Dilated cardiomyopathy, Optic atrophy... OMIM:253800
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Acute Radiation Syndrome
Cataract, Thrombocytopenia, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Hypopigme... ORPHA:454831
Ruijs-Aalfs Syndrome
Cataract, Down-sloping shoulders, Posterior subcapsular cataract, Premature graying of hair, Clin... OMIM:616200
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Retinal calcification, Exudative ret... OMIM:259770
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Hypertrophic cardiomy... ORPHA:848
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Corneal dystrophy, Camptodactyly of finger, Abnormal vitreous humor morp... ORPHA:1101
Oligoarticular Juvenile Idiopathic Arthritis
Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Genu valgum, Abnormal epiphysis morph... ORPHA:53
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Hypermelanotic macule, Tremor, Optic atrophy, Uvei... ORPHA:90321
Familial Isolated Hypoparathyroidism
Arrhythmia, Cataract ORPHA:2238
Juvenile Paget Disease
Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Melanocytic nevus, ... ORPHA:2801
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Optic atrophy, Choreoathetosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Mucopolysaccharidosis Type 1
Corneal opacity, Splenomegaly, Congestive heart failure, Split hand, Optic atrophy, Hypertrophic ... ORPHA:579
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Choreoathetosis, Cardiomyopathy, Thrombocyt... ORPHA:27
Jacobsen Syndrome
Missing ribs, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Clinodactyl... OMIM:147791
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Cataract, Short toe, Short metatarsal, Short finger, Cognitive impairment, Brac... OMIM:103580
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Choreoat... OMIM:608804
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Cataract OMIM:616586
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620155
Blau Syndrome
Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Keratitis, Retrobulbar optic neuri... ORPHA:90340
Cerebellar Ataxia-Hypogonadism Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Dementia, Optic atrophy ORPHA:1173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Retinal dystrophy OMIM:616538
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Optic atrophy ORPHA:543470
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the ulna, Cataract, Toe syndactyly, Short thumb, Hypoplasia of t... ORPHA:3258
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Cataract, Conjunctivitis OMIM:612843
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi... ORPHA:679
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, S... OMIM:618150
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment ORPHA:141
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Attention deficit ... ORPHA:216866
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Cataract, Tricuspid regurgitation, Noncompaction cardiomyopathy,... ORPHA:508542
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Postaxial hand polydactyl... ORPHA:3380
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Asplenia, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence... OMIM:240300
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Optic atrophy, Genu valgum, Astigmatism, Finger joint hypermobility OMIM:618493
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Cataract, Short metatarsal, Cognitive impairment, Brachydactyly OMIM:612462
Legius Syndrome
Short attention span, Inguinal freckling, Cataract, Dystonia, Acute monocytic leukemia, Paroxysma... ORPHA:137605
Harrod Syndrome
Cataract, Arachnodactyly, Hypopigmented skin patches, Abnormal shoulder morphology, Abnormal pelv... ORPHA:2115
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Abnormality of skin pigmen... ORPHA:744
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Pigmentary retinopathy, Camptodactyly OMIM:614230
Marshall Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Genu valgum, Vi... ORPHA:560
De Sanctis-Cacchione Syndrome
Hypermelanotic macule, Keratitis, Axonal degeneration, Optic atrophy, Mental deterioration, Telan... OMIM:278800
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Opacification of the corneal stroma, Dystonia, Thrombocytopenia OMIM:251290
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Coloboma, Clinodactyly of the 5th finger, Conjunctival hyperemia ORPHA:2399
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Cataract, Conjunctivitis, Corneal scarring OMIM:226600
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cataract, Depression, Short foot, Hand polydactyly, Broad t... ORPHA:250989
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Cataract, Retinal atrophy, Retinal dystrophy, Pr... ORPHA:90324
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Brachydactyly OMIM:247410
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Corneal erosion, Optic disc coloboma OMIM:270420
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Missing ribs, Rib fusion, Co... OMIM:206900
Optic Atrophy 8
Mitral regurgitation, Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory... OMIM:616648
Frontorhiny
Cataract, Camptodactyly of finger, Finger clinodactyly, Iris coloboma, Brachydactyly ORPHA:391474
Triploidy
Finger syndactyly, Cataract, Iris coloboma ORPHA:3376
Cadds
Cataract, Dystonia ORPHA:369942
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Spastic Paraplegia 9A, Autosomal Dominant
Resting tremor, Abnormal pelvic girdle bone morphology, Cataract, Carpal bone hypoplasia OMIM:601162
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Autoimmune Polyendocrinopathy Type 1
Cataract, Hypopigmented skin patches, Opacification of the corneal stroma ORPHA:3453
Opticocochleodentate Degeneration
Mental deterioration, Optic atrophy OMIM:258700
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Thickened ribs, Corneal opacity, Camptodactyly ... ORPHA:217093
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Absent thumb, Short thumb, Developmental glaucoma,... ORPHA:124
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpa... ORPHA:192
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Clinodactyly of the 5th finger, Ret... ORPHA:1587
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... OMIM:309801
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Thickened ribs, Corneal opacity, Cataract,... ORPHA:309282
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Thickened ribs, Corneal opacity, Camptodactyly ... ORPHA:217085
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... OMIM:259710
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Metaphyseal widening, Splenomegaly, Optic atrophy, Clubbing, Congestive heart f... OMIM:617303
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Cataract, Dilated cardiomyopathy, Depression, Cognitive impairment, Memory impairment ORPHA:70595
Meckel Syndrome
Accessory spleen, Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Scleroco... ORPHA:564
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Cataract, Short distal phalanx of finger ORPHA:1563
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Aplasia/Hypoplasia of the ribs, Broad hallux, Optic nerve hypoplasia, Facia... ORPHA:508498
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Splenomegaly, Optic atrophy, Hyperten... OMIM:617913
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Optic atrophy, Oromandibular d... ORPHA:52368
Weill-Marchesani Syndrome 1
Cataract, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Mitral regurgitation, Pulm... OMIM:277600
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Splenomegaly, Nuclear cataract, Stomatocytosis OMIM:608885
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... ORPHA:1215
Cockayne Syndrome A
Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormalit... OMIM:216400
Galloway-Mowat Syndrome 1
Cataract, Dystonia, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, C... OMIM:251300
Cerebrotendinous Xanthomatosis
Optic disc pallor, Short attention span, Resting tremor, Dystonia, Abnormal auditory evoked poten... ORPHA:909
Williams Syndrome
Myocardial infarction, Tremor, Clinodactyly of the 5th finger, Megalocornea, Sudden cardiac death... ORPHA:904
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Cataract, Generalized dystonia, Tachycardia, Dilated cardiomyopathy, Irritability, ... OMIM:618321
Halperin-Birk Syndrome
Optic atrophy, Hip dislocation, Developmental cataract OMIM:618651
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypoplasia, Abnormal... ORPHA:79345
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Cataract, Hepatosplenomegaly, Stomatocytosis, Zonular cataract, Bra... ORPHA:168577
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Spondyloocular Syndrome
Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Long fin... OMIM:605822
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Generalized dystonia, Writer's cramp, Tremor, Head titubation, Optic a... OMIM:312080
Leber Optic Atrophy
Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb... OMIM:535000
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Broad hallux, Sandal gap, 2-3 toe cu... OMIM:300166
Crouzon Syndrome
Keratitis, Optic atrophy, Conjunctivitis OMIM:123500
Dpagt1-Cdg
Prolonged QT interval, Arachnodactyly, Emotional blunting, Tremor, Optic atrophy, Developmental c... ORPHA:86309
Lathosterolosis
Toe syndactyly, Cataract, Postaxial hand polydactyly, Anisopoikilocytosis, Abnormal platelet morp... ORPHA:46059
Cowden Syndrome 5
Cataract, Angioid streaks of the fundus, Intention tremor OMIM:615108
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Cataract, Short long bone, Bowing of the long bones OMIM:224410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:133540
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Short attention span, Corneal opacity, Progress... ORPHA:580
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Cataract OMIM:620327
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Aicardi Syndrome
Retinal detachment, Cataract, Proximal placement of thumb, Missing ribs, Chorioretinal lacunae, O... OMIM:304050
Neonatal Marfan Syndrome
Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Ectopia lentis, Long fingers, He... ORPHA:284979
Dural Sinus Malformation
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorr... ORPHA:97339
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Xfe Progeroid Syndrome
Hypertension, Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels OMIM:610965
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Portal hypertension, Optic atrophy, Chorioretinal atrophy, Hepato... OMIM:619487
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Hypermelanotic macule, Keratit... ORPHA:910
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Split hand, Blue irides, Split foot, Ectrodactyly, Generalized hypopigmentation, ... OMIM:604292
Cockayne Syndrome
Miosis, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Intention tremor, Ret... ORPHA:191
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Thrombocytopenia, Tremor... OMIM:612199
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Arachnodactyly, Transient ischemic attack, Subarachnoid hemorrhage, Hypovol... ORPHA:91387
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly, Telangiectasia OMIM:266270
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal ch... OMIM:260400
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Cataract, Cognitive impairment ORPHA:363623
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short th... OMIM:105650
Neurocardiofaciodigital Syndrome
Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Polydactyly OMIM:619869
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hallermann-Streiff Syndrome
Cataract, Metaphyseal widening, Optic disc coloboma, Thin ribs, Choreoathetosis, Slender long bon... OMIM:234100
1P36 Deletion Syndrome
11 pairs of ribs, Cataract, Camptodactyly of finger, Abnormality of the spleen, Dilated cardiomyo... ORPHA:1606
Cerebral Visual Impairment
Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr... ORPHA:447788
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Corneal erosion, Optic atroph... ORPHA:87
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Split hand, Blue irides, Split foot, Hand polydactyly, Generalized hypopigmentati... OMIM:129900
Chops Syndrome
Splenomegaly, Cataract, Optic atrophy, Brachydactyly OMIM:616368
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Progressive neurologic deterioration, Avascular necrosis of the capita... ORPHA:581
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Cognitive impairment, Corneal crystals ORPHA:411629
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Missing ribs, Optic disc coloboma, Optic... ORPHA:50
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Leigh Syndrome
Cataract, Dystonia, Progressive neurologic deterioration, Congestive heart failure, Optic atrophy... ORPHA:506
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Femur fracture, Facial palsy, Thrombocytopenia, Splenomegaly, Optic atrophy, Flared... OMIM:259700
Gapo Syndrome
Keratoconus, Optic atrophy, Hypopigmented skin patches, Abnormal pelvic girdle bone morphology, A... ORPHA:2067
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Witteveen-Kolk Syndrome
Toe syndactyly, Cataract, Overlapping toe, Proximal placement of thumb, Arachnodactyly, Short thu... OMIM:613406
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Transient neutropenia, Chronic neutropenia, Abnormal thumb morphology, Metatarsus adduc... ORPHA:500095
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Cataract, Cortical subperiosteal resorption of humeral metaphyses, Diaphys... ORPHA:94089
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Tapered finger, Sho... ORPHA:464311
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Raynaud phenomenon, Arterial oc... OMIM:259900
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Abnormality of retinal pigmentation, Short metacarpal, Cataract, Bowed humerus... OMIM:272460
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Optic atrophy, Short metatarsa... OMIM:605282
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Craniolenticulosutural Dysplasia
Punctate cataract, Optic atrophy, High iliac wing, Posterior Y-sutural cataract, Forehead hyperpi... OMIM:607812
White-Sutton Syndrome
Optic atrophy, Astigmatism, Rod-cone dystrophy, Iris coloboma, Vitiligo ORPHA:468678
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia OMIM:269200
Basal Cell Nevus Syndrome 1
Cataract, Down-sloping shoulders, Polydactyly, Short ribs, Bifid ribs, Short distal phalanx of th... OMIM:109400
Transketolase Deficiency
Attention deficit hyperactivity disorder, Cataract, Conjunctivitis, Uveitis ORPHA:488618
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short metatarsal, Macular degeneration, Clinodactyly of the 5th finger, Short phalanx of finger, ... OMIM:266920
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Optic disc coloboma, Optic atrophy, Hypoplastic radial head, Hand ol... OMIM:122470
Diamond-Blackfan Anemia 6
Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, Increased mean... OMIM:612561
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Epiphyseal stippling OMIM:118650
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ... OMIM:609541
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Confusion, Myocardial ... ORPHA:117
Williams-Beuren Syndrome
Hallux valgus, Short attention span, Down-sloping shoulders, Portal hypertension, Retinal arterio... OMIM:194050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Optic atrophy, Depression, Clinodactyly of the 5th fi... ORPHA:847
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Mend Syndrome
Cataract, Broad hallux, Overlapping toe, Long fingers, Spotty hypopigmentation, 2-3 toe syndactyl... OMIM:300960
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Short metacarpal, Cataract, Short fifth metatarsal, Confusion, Short metat... ORPHA:79444
Joubert Syndrome 1
Optic disc pallor, Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Postaxial ... OMIM:213300
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Optic atrophy, Hypoplastic pubic bone, Cone-shaped epiphyses of the phalanges of... OMIM:210730
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Sclerocornea, Short hall... ORPHA:280
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Gapo Syndrome
Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Shallow anterior chamber... OMIM:230740
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Dilated cardiomyopa... ORPHA:79282
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Lenticonus, Anterior lenticonus OMIM:308940
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Generalized dystonia, Tremor, Optic atrophy, Oromandibula... OMIM:614298
Lymphedema-Distichiasis Syndrome
Corneal erosion, Cataract, Conjunctivitis, Arrhythmia ORPHA:33001
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Hypertrophic cardiomyopathy, Optic atrophy, Progressive neurolog... OMIM:618329
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Depression, Pigmentary retinopath... ORPHA:96180
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Uveitis, Subc... ORPHA:509
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Head tremor ORPHA:95433
Ciliary Dyskinesia, Primary, 1
Asplenia, Abnormal cornea morphology OMIM:244400
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina... ORPHA:141099
Sclerosteosis 1
Papilledema, Syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Deviation of finger,... OMIM:269500
Tempi Syndrome
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Tremor, Splenomegaly, ... OMIM:615512
Lathosterolosis
Toe syndactyly, Cataract, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydact... OMIM:607330
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Alagille Syndrome 1
Hypoplasia of the ulna, Cataract, Band keratopathy, Abnormal anterior chamber morphology, Chorior... OMIM:118450
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Reticulated skin pigmentation, Thrombocytopenia, ... OMIM:305000
Lead Poisoning
Imbalanced hemoglobin synthesis, Depression, Abnormal T cell morphology, Hypertension, Cognitive ... ORPHA:330015
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Optic disc pallor, Normocytic anemia, Dystonia, Rocker bottom foot, Cardiac arr... OMIM:618947
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Marfan Syndrome
Aortic regurgitation, Retinal detachment, Cataract, Arachnodactyly, Protrusio acetabuli, Tricuspi... OMIM:154700
Osteopetrosis, Autosomal Recessive 9
Papilledema, Anemia OMIM:620366
Focal Dermal Hypoplasia
Linear hyperpigmentation, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot... OMIM:305600
Holoprosencephaly
Dystonia, Abnormality of the spleen, Optic atrophy, Hand polydactyly, Chorioretinal coloboma, Cog... ORPHA:2162
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309271
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... OMIM:603671
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Hypopigmentation of hair, Cataract, Aganglionic megacolon, Sclerocornea, Proxi... ORPHA:818
Primary Hyperoxaluria
Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, Arterial occlus... ORPHA:416
Frontofacionasal Dysplasia
Microcornea, Cataract, Iris coloboma OMIM:229400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Cong... ORPHA:505248
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Normochromic anemia, Bradycardia, Hypertrophic cardiom... OMIM:618775
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Brachydactyly, Bowing of the long b... ORPHA:3103
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Acanthocytosis, Tremor, Optic atrophy, Depression, Choreoathetosis... OMIM:234200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short toe, HbH hemoglobin, Microcytic anemia ORPHA:98791
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Cataract, Bowing of the long bones, Aplastic clavicle, Flared metaphysis, Short... ORPHA:50945
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Myocard... ORPHA:892
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma ORPHA:2250
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Optic disc pallor, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Corneal o... ORPHA:464306
Biotinidase Deficiency
Splenomegaly, Optic atrophy, Conjunctivitis OMIM:253260
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Arima Syndrome
Retinal dystrophy, Postaxial hand polydactyly, Optic atrophy, Postaxial foot polydactyly, Hyperte... OMIM:243910
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Abno... ORPHA:2072
Stankiewicz-Isidor Syndrome
Short thumb, Abnormal optic disc morphology, 2-3 toe syndactyly, Absent thumb OMIM:617516
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Progressive neurologic deterioration, Tremor, ... OMIM:614947
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Optic atrophy, Coloboma, Hip dysplasia, Clinodactyly of the 5th finger, Attention def... OMIM:616975
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Facial palsy, Abnormal morphology of ul... ORPHA:1328
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Astigmatism, Hyperpigmentation of the skin, Cataract OMIM:619268
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Vascular Ehlers-Danlos Syndrome
Keratoconus, Congenital hip dislocation, Telangiectasia of the skin, Transient ischemic attack, A... ORPHA:286
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Abnormal acetabulum morphology, Retinal dystrophy, Postaxial polydactyly, Proximal... ORPHA:397715
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia OMIM:612301
7Q11.23 Microduplication Syndrome
Long fingers, Abnormal optic disc morphology, Astigmatism, Aortic valve stenosis, Cafe-au-lait spot ORPHA:96121
African Trypanosomiasis
Papilledema, Pericarditis, Abnormal EKG, Keratitis, Splenomegaly, Tremor, Myocarditis, Congestive... ORPHA:3385
Townes-Brocks Syndrome
Broad hallux phalanx, Toe clinodactyly, Cataract, Toe syndactyly, Preaxial hand polydactyly, Part... ORPHA:857
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Optic atrophy, Depression, Hypotension, Arrhythmia, Emo... ORPHA:428
Peters Plus Syndrome
Cataract, Corneal opacity, Toe syndactyly, Short toe, Optic atrophy, Microcornea, Short foot, Pul... ORPHA:709
Charge Syndrome
Brachydactyly, Facial palsy, Abnormal tibia morphology, Optic atrophy, Abnormal rib morphology, B... ORPHA:138
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Dementia, Optic atrophy, Depression OMIM:604121
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Narrow iliac wing, Cataract, Anemia ORPHA:3042
Elsahy-Waters Syndrome
Cataract, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased cup-to-d... OMIM:211380
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Cranial nerve compr... ORPHA:2785
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Short humerus, Optic nerve hypoplasia, Absent thumb,... OMIM:218600
Neurooculorenal Syndrome
Iris atrophy, Short 1st metacarpal, Short hallux OMIM:620305
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Coxa valga, Tapered finger, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ra... OMIM:301040
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy, Depression OMIM:604928
Tetraamelia Syndrome 1
Asplenia, Cataract, Hypoplastic pelvis OMIM:273395
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Pineoblastoma
Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin... ORPHA:251909
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Craniorachischisis
Bifid sternum ORPHA:63260

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 Ppat

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 Ppat.

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

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
Ppatem1(IMPC)Tcp Exon Deletion Mice
Ppattm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppattm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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