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Gene: Alkal2 MGI:3697448

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Gene Summary

Name:
ALK and LTK ligand 2
Synonyms:
Fam150b,  Augalpha,  Augmentor alpha,  6230419C23Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Alkal2em1(IMPC)J HOM   Early adult 1.61×10-05
decreased grip strength Alkal2em1(IMPC)J HET Early adult 8.16×10-06
exophthalmos Alkal2em1(IMPC)J HOM   Early adult 4.60×10-05
corneal opacity Alkal2em1(IMPC)J HOM Early adult 2.05×10-05
narrow eye opening Alkal2em1(IMPC)J HOM Early adult 1.37×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Ophthalmoscopy

25 Images

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Combined SHIRPA and Dysmorphology

Images

9 Images

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Electrocardiogram (ECG)

Waveform Image

12 Images

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Human diseases caused by Alkal2 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 Alkal2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Kleeblattschaedel
Recurrent corneal erosions, Craniosynostosis, Proptosis OMIM:148800
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity OMIM:277950
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Frias Syndrome
Ptosis, Proptosis, Hypertelorism, Downslanted palpebral fissures OMIM:609640
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Tetralogy Of Fallot
Proptosis OMIM:187500
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Cherubism
Proptosis, Bone cyst ORPHA:184
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Reduced bone mineral density, Corneal opacity ORPHA:2370
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Gómez-López-Hernández Syndrome
Telecanthus, Hypertelorism, Corneal opacity ORPHA:1532
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Pontocerebellar Hypoplasia Type 10
Long palpebral fissure, Highly arched eyebrow, Long eyelashes, Proptosis ORPHA:411493
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Galactosialidosis
Corneal opacity ORPHA:351
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis, Osteolysis ORPHA:2776
Caffey Disease
Proptosis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperost... ORPHA:1310
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Frontoocular Syndrome
Coronal craniosynostosis, Short palpebral fissure, Proptosis, Upslanted palpebral fissure, Hypote... OMIM:605321
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Proptosis OMIM:608716
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Holoprosencephaly 11
Thick eyebrow, Proptosis, Hypotelorism, Synophrys OMIM:614226
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Thick eyebrow, Long palpebral fissure, Corneal opacity... OMIM:602562
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Proptosis, Hypertelorism OMIM:612247
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Proptosis, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysi... OMIM:166300
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Proptosis, Downslanted palpebral fissures, Thick ... OMIM:615834
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma ORPHA:1473
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis, Upslanted palpebral fissure OMIM:618492
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon OMIM:611038
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Proptosis OMIM:616171
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Tetralogy Of Fallot
Proptosis ORPHA:3303
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Proptosis ORPHA:85172
Ichthyosis, Congenital, Autosomal Recessive 4B
Ectropion, Proptosis OMIM:242500
Multiple Synostoses Syndrome 3
Proptosis OMIM:612961
Chromosome 5P13 Duplication Syndrome
Short palpebral fissure, Proptosis, Astigmatism, Upslanted palpebral fissure, Hypotelorism, Epica... OMIM:613174
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Proptosis, Hypertelorism, Coarse metaphyseal trabecularization, Corneal opacity OMIM:618961
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Proptosis, Telecanthus, Rieger anomaly, Hypertelorism, Abs... OMIM:109120
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Short palpebral fissure, Proptosis, Bilateral ptosis, Upslanted palpebral ... ORPHA:352490
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Proptosis, Downslanted palpebral fissures ORPHA:157965
Mucolipidosis Type Iii
Craniofacial hyperostosis, Reduced bone mineral density, Corneal opacity ORPHA:577
Microphthalmia/Coloboma 9
Microcornea, Ptosis, Hypertelorism, Ocular anterior segment dysgenesis, Narrow palpebral fissure,... OMIM:615145
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Teebi Hypertelorism Syndrome 2
Proptosis, Thick eyebrow, Upper eyelid coloboma, Ptosis, Hypertelorism OMIM:619736
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Hypophosphatasia, Childhood
Craniosynostosis, Proptosis OMIM:241510
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Developmental And Epileptic Encephalopathy 48
Long palpebral fissure, Long eyelashes, Proptosis OMIM:617276
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long eyelashes, Proptosis, Unilambdoid synostosis, Hypertelorism OMIM:618577
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Crouzon Syndrome
Proptosis, Multiple suture craniosynostosis, Ptosis, Hypertelorism, Conjunctivitis, Iris coloboma ORPHA:207
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis, Carpal osteolysis, Metacarpal osteolysis, Telecanthus, Osteolysis ORPHA:2774
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Long eyelashes, Craniosynostosis OMIM:619451
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Lacrimal punctal atresia, Telecanthus,... ORPHA:2399
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opac... ORPHA:1794
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Brachyolmia Type 1, Hobaek Type
Osteopenia, Opacification of the corneal stroma, Corneal opacity OMIM:271530
Harel-Yoon Syndrome
Deeply set eye, Upslanted palpebral fissure, Developmental cataract, Corneal opacity OMIM:617183
Vitamin K Antagonist Embryofetopathy
Cataract, Epiphyseal stippling, Proptosis, Hypertelorism ORPHA:1914
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Corneal opacity, Antecubital pterygium OMIM:619339
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Astigmatism, Upslanted... OMIM:152950
Lethal Osteosclerotic Bone Dysplasia
Proptosis ORPHA:1832
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Proptosis, Ectopia pupillae, Hypoplasia of the iris,... OMIM:602482
Muenke Syndrome
Coronal craniosynostosis, Proptosis, Downslanted palpebral fissures, Ptosis, Hypertelorism OMIM:602849
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Proptosis, Orbital craniosynostosis, Shallow orbits, Reduce... OMIM:112240
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Donnai-Barrow Syndrome
Proptosis, Hypertelorism, Iris coloboma, Downslanted palpebral fissures ORPHA:2143
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Proptosis, Sagittal craniosynos... OMIM:123500
Short Syndrome
Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Deeply set eye, Pos... ORPHA:3163
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Corneal opacity, Craniosynostosis, Developmental glaucoma ORPHA:1064
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Spinocerebellar Ataxia-Dysmorphism Syndrome
Proptosis, Epicanthus, Ptosis, Reduced bone mineral density ORPHA:1185
Hyperostosis Cranialis Interna
Osteosclerosis of the base of the skull, Proptosis, Hyperostosis cranialis interna, Calvarial hyp... OMIM:144755
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Cyclopia, Proptosis, Hypertelorism ORPHA:2165
Muenke Syndrome
Coronal craniosynostosis, Ptosis, Proptosis, Hypertelorism ORPHA:53271
Jackson-Weiss Syndrome
Ptosis, Proptosis, Hypertelorism ORPHA:1540
Pontocerebellar Hypoplasia, Type 3
Long palpebral fissure, Proptosis OMIM:608027
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Proptosis, Upslanted palpebral fissure, Deeply set eye OMIM:618707
Trisomy 12P
Proptosis, Thick eyebrow, Aplasia/Hypoplasia of the iris, Epicanthus, Hypertelorism ORPHA:1699
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Proptosis OMIM:617481
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Stickler Syndrome Type 1
Cataract, Proptosis ORPHA:90653
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Corneal opacity, Blepharitis OMIM:602400
Houge-Janssens Syndrome 3
Proptosis, Epicanthus, Hypertelorism, Megalocornea OMIM:618354
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Shashi-Pena Syndrome
Highly arched eyebrow, Proptosis, Long eyelashes, Epicanthus, Ptosis, Hypertelorism, Osteoporosis... OMIM:617190
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Corneal opacity, Megalocornea ORPHA:2741
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Gillessen-Kaesbach-Nishimura Syndrome
Proptosis, Telecanthus, Decreased skull ossification, Epicanthus, Hypertelorism OMIM:263210
Mucolipidosis Type Iii Alpha/Beta
Proptosis, Epicanthus, Corneal opacity, Generalized osteoporosis, Osteolysis ORPHA:423461
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Downslanted palpebral fissures OMIM:618821
Jackson-Weiss Syndrome
Proptosis, Coronal craniosynostosis, Craniosynostosis OMIM:123150
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity OMIM:620469
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelash... ORPHA:1234
Lowry-Maclean Syndrome
Osteopenia, Proptosis, Megalocornea, Downslanted palpebral fissures, Corneal opacity, Osteoporosi... ORPHA:2409
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Ptosis, Proptosis, Hypertelorism ORPHA:93262
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Downslanted palpebral fissures, Epicanthus, Ptosis, Blepharophim... ORPHA:284160
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity OMIM:252650
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Proptosis, Downslanted palpebr... OMIM:616294
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Proptosis, Downslanted palpebral fissures, Thin bony cortex, Increased bone mineral d... ORPHA:85184
Alpha-Mannosidosis
Cataract, Craniofacial hyperostosis, Hypertelorism, Corneal opacity ORPHA:61
Developmental And Epileptic Encephalopathy 75
Proptosis, Upslanted palpebral fissure, Hypertelorism OMIM:618437
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Deeply set eye, Upslanted palpebral fissure, Corneal opacity ORPHA:496790
Acrofrontofacionasal Dysostosis 2
Proptosis, Ptosis, Hypertelorism, Downslanted palpebral fissures OMIM:239710
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne... OMIM:221800
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Cataract, Microcornea, Nasolacrimal duct obstruction,... ORPHA:141099
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Hyperte... ORPHA:2095
Sialidosis Type 2
Osteoporosis, Corneal opacity ORPHA:87876
Vascular Malformation, Primary Intraosseous
Proptosis OMIM:606893
Desbuquois Syndrome
Abnormal eyelash morphology, Proptosis ORPHA:1425
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Proptosis, Blepharitis, Iritis ORPHA:158000
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Proptosis, Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral fissure, Hypertelo... OMIM:620250
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e... ORPHA:96125
Craniosynostosis 4
Lambdoidal craniosynostosis, Coronal craniosynostosis, Proptosis, Bicoronal synostosis, Sagittal ... OMIM:600775
Periventricular Nodular Heterotopia 7
Proptosis, Hypertelorism, Deeply set eye OMIM:617201
Spinocerebellar Ataxia Type 3
Proptosis ORPHA:98757
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Proptosis, Telecanthus, Eyelid coloboma, Epicanthus, Blepharophimosis, L... ORPHA:3339
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Proptosis OMIM:274300
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Proptosis, Abnormal eyebrow morphology, Absent eyelashes, Acroosteolysis of distal phal... ORPHA:90153
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Corneal opacity ORPHA:2788
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Proptosis, Downslanted palpebral fissures, Epicanthus, Ptosis, Hyperte... ORPHA:2789
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Proptosis, Hyperostosis, Shallow orbits, Generalized bone demineralization, Abnormal bone ossific... ORPHA:73230
Cenani-Lenz Syndrome
Cataract, Proptosis, Downslanted palpebral fissures, Ptosis, Hypertelorism, Ectropion ORPHA:3258
3Mc Syndrome 3
Highly arched eyebrow, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inversus, Hypertelorism OMIM:248340
Congenital Myopathy 22A, Classic
Proptosis, Bilateral ptosis, Downslanted palpebral fissures, Deeply set eye, Ptosis, Osteoporosis... OMIM:620351
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Proptosis, Bilateral ptosis, Delayed patellar ossifica... ORPHA:485
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Ptosis, Proptosis ORPHA:2522
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Acrocraniofacial Dysostosis
Proptosis, Downslanted palpebral fissures, Telecanthus, Ptosis, Hypertelorism, Craniosynostosis ORPHA:949
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Proptosis, Carpal osteolysis, Peripheral opacification of the cornea, Metacarpal oste... OMIM:259600
Distal Deletion 9P
Epicanthus, Proptosis, Upslanted palpebral fissure, Hypertelorism ORPHA:1642
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Proptosis OMIM:614078
Filippi Syndrome
Proptosis OMIM:272440
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Precocious costochondral ossification OMIM:271630
Donnai-Barrow Syndrome
Cataract, Proptosis, Downslanted palpebral fissures, Hypoplasia of the iris, Hypertelorism, Iris ... OMIM:222448
Neu-Laxova Syndrome
Cataract, Osteopenia, Rickets, Proptosis, Osteomalacia, Pterygium, Abnormal nasolacrimal system m... ORPHA:2671
Ritscher-Schinzel Syndrome 4
Proptosis, Downslanted palpebral fissures, Hypotelorism, Deeply set eye, Hypertelorism OMIM:619435
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Upslanted palpebral fissure, Posterior subcapsular cataract, Proptosis, Astigmatism OMIM:619234
Kosaki Overgrowth Syndrome
Xanthelasma, Ptosis, Proptosis, Downslanted palpebral fissures OMIM:616592
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Ptosis, Corneal opacity, Hypertelorism, Iris coloboma ORPHA:1647
20Q13.33 Microdeletion Syndrome
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Ep... ORPHA:261311
Thanatophoric Dysplasia
Proptosis, Downslanted palpebral fissures ORPHA:2655
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Chitayat Syndrome
Proptosis, Hypertelorism OMIM:617180
Atelosteogenesis Type I
Proptosis, Absent or minimally ossified vertebral bodies, Telecanthus, Abnormal ossification invo... ORPHA:1190
Prolidase Deficiency
Ptosis, Proptosis, Hypertelorism OMIM:170100
Neu-Laxova Syndrome 2
Ablepharon, Cataract, Proptosis, Hypertelorism OMIM:616038
Antley-Bixler Syndrome
Proptosis, Craniosynostosis, Hypertelorism, Downslanted palpebral fissures ORPHA:83
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Marshall-Smith Syndrome
Proptosis, Craniosynostosis, Reduced bone mineral density, Hypertelorism ORPHA:561
Optic Pathway Glioma
Proptosis ORPHA:2086
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Proptosis OMIM:618346
19P13.12 Microdeletion Syndrome
Proptosis, Epicanthus, Hypertelorism, Craniosynostosis, Synophrys ORPHA:254346
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Bilateral ptosis, Aniridia, C... OMIM:106210
Zellweger Syndrome
Cataract, Epiphyseal stippling, Upslanted palpebral fissure, Epicanthus, Posterior embryotoxon, C... ORPHA:912
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Telecanthus, Hypertelorism, Opacification of the corneal stroma, Anterior chamber sy... OMIM:601499
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Downslanted palpebral fissures, Telecanthus, Astigmatism, Corneal opacity, Craniosynostosis, Hype... OMIM:301056
Tyshchenko Syndrome
Ptosis, Proptosis OMIM:615102
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Ptosis, Proptosis ORPHA:1323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Proptosis, Upslanted palpebral fissure, Downslanted palpebral fissures ORPHA:1790
Desbuquois Dysplasia 1
Proptosis, Advanced ossification of carpal bones, Osteoporosis, Advanced tarsal ossification, Dev... OMIM:251450
Marshall Syndrome
Cataract, Sparse eyebrow, Ectopia lentis, Proptosis, Sparse eyelashes, Hypertelorism ORPHA:560
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Thick eyebrow, Proptosis, Hypertelorism OMIM:614800
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Thin eyebrow, Long eyelashes, T... OMIM:615485
Melnick-Needles Syndrome
Craniofacial hyperostosis, Proptosis, Abnormal cortical bone morphology, Osteolytic defects of th... ORPHA:2484
Marfanoid-Progeroid-Lipodystrophy Syndrome
Ectopia lentis, Proptosis, Downslanted palpebral fissures, Deeply set eye, Keratoconjunctivitis s... OMIM:616914
Oculoectodermal Syndrome
Microcornea, Proptosis, Astigmatism, Eyelid coloboma, Epicanthus, Opacification of the corneal st... OMIM:600268
Premature Aging Syndrome, Penttinen Type
Proptosis, Hypotelorism, Corneal stromal edema, Shallow orbits, Corneal opacity, Osteoporosis, Os... OMIM:601812
Pediatric-Onset Graves Disease
Proptosis, Craniosynostosis, Abnormal eyelid morphology, Keratitis ORPHA:525731
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanthus, Sclerocornea OMIM:615877
Al-Gazali Syndrome
Sclerocornea, Osteopenia, Corneal opacity OMIM:609465
Distal Deletion 10Q
Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Astigmatism, Hypotelorism... ORPHA:96148
Rothmund-Thomson Syndrome, Type 3
Proptosis, Osteopenia, Sparse eyebrow, Telecanthus OMIM:615789
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Ptosis, Corneal opacity OMIM:612469
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Proptosis OMIM:615381
20Q11.2 Microduplication Syndrome
Proptosis, Downslanted palpebral fissures, Epicanthus, Ptosis, Abnormal shape of the palpebral fi... ORPHA:363659
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Axenfeld an... OMIM:612582
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Proptosis, Hypertelorism ORPHA:93258
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Proptosis OMIM:156550
Graves Disease
Proptosis OMIM:275000
Aminopterin/Methotrexate Embryofetopathy
Epicanthus, Proptosis, Hypertelorism ORPHA:1908
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Proptosis, Downslanted palpebral fissures, Ptosis, Hypertelorism, Craniosynostosis ORPHA:1555
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Proptosis, Downslanted palpebral fissures ORPHA:276432
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Hypertelorism OMIM:611209
ERI1-related disease
Osteopenia, Proptosis, Upslanted palpebral fissure, Epicanthus OMIM:608739
Nestor-Guillermo Progeria Syndrome
Sparse eyebrow, Proptosis, Mandibular osteolysis, Sparse eyelashes, Osteoporosis, Osteolytic defe... OMIM:614008
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Alpha-Mannosidosis, Adult Form
Cataract, Osteopenia, Corneal opacity ORPHA:309288
Craniofaciofrontodigital Syndrome
Osteopenia, Lower eyelid edema, Proptosis, Epicanthus, Hypertelorism, Osteoporosis ORPHA:363705
Chops Syndrome
Cataract, Proptosis, Long eyelashes, Thick eyebrow, Hypertelorism, Synophrys OMIM:616368
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Proptosis, Long eyelashes, Long palpebral fissure, Synophrys OMIM:615803
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertelor... OMIM:614230
Marbach-Rustad Progeroid Syndrome
Proptosis, Reduced bone mineral density, Shallow orbits OMIM:619322
Fish-Eye Disease
Corneal opacity ORPHA:79292
Wyburn-Mason Syndrome
Iris hypopigmentation, Proptosis ORPHA:53719
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Proptosis ORPHA:352582
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Deeply set eye, Astigmatism, Corneal opacity ORPHA:2323
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Dysostosis, Stanescu Type
Increased bone mineral density, Proptosis, Massively thickened long bone cortices, Hypertelorism ORPHA:1798
Alpha-Mannosidosis, Infantile Form
Cataract, Osteopenia, Highly arched eyebrow, Proptosis, Cranial hyperostosis, Astigmatism, Cornea... ORPHA:309282
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Sclerocornea, Craniosynostosis, Iris coloboma ORPHA:251038
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Osteopenia, Proptosis, Downslanted palpebral fissures, Thick eyebrow, H... OMIM:245600
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Opacification of the corneal stroma, Hypertelorism, Downslanted palpebral fissures OMIM:601853
Microhydranencephaly
Proptosis OMIM:605013
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Proptosis, Downslanted palpebral fissures, Telecanthus, Ptosis, Shallow orbits, Hyper... OMIM:182212
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Proptosis, Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertelo... ORPHA:251014
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Thanatophoric Dysplasia Type 2
Proptosis ORPHA:93274
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Machado-Joseph Disease
Ptosis, Proptosis OMIM:109150
Robinow Syndrome, Autosomal Recessive 2
Long eyelashes, Proptosis, Hypertelorism OMIM:618529
H Syndrome
Proptosis, Abnormal eyebrow morphology, Upper eyelid edema, Corneal arcus, Osteolysis ORPHA:168569
Cardiofaciocutaneous Syndrome 1
Osteopenia, Palpebral thickening, Proptosis, Downslanted palpebral fissures, Absent eyelashes, Ep... OMIM:115150
Frank-Ter Haar Syndrome
Osteopenia, Proptosis, Megalocornea, Cortical irregularity, Downslanted palpebral fissures, Hyper... OMIM:249420
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Hurler Syndrome
Cranial hyperostosis, Bilateral ptosis, Corneal opacity, Calvarial hyperostosis, Opacification of... OMIM:607014
Robinow Syndrome, Autosomal Dominant 2
Proptosis, Upslanted palpebral fissure, Calvarial osteosclerosis, Hypertelorism OMIM:616331
Oculoauricular Syndrome
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... OMIM:612109
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Thin eyebrow, Telecanthus, Corneal opacity, Hypertelorism, Synophrys ORPHA:364577
Cinca Syndrome
Proptosis OMIM:607115
De Barsy Syndrome
Cataract, Osteopenia, Downslanted palpebral fissures, Deeply set eye, Epicanthus, Corneal opacity... ORPHA:2962
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma, Generalized bone demineralization OMIM:215250
Cinca Syndrome
Proptosis, Reduced bone mineral density ORPHA:1451
Sclerosteosis 1
Proptosis, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense l... OMIM:269500
Developmental And Epileptic Encephalopathy 80
Proptosis, Upslanted palpebral fissure, Hypertelorism OMIM:618580
Shprintzen-Goldberg Syndrome
Osteopenia, Proptosis, Downslanted palpebral fissures, Telecanthus, Ptosis, Hypertelorism, Cranio... ORPHA:2462
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Proptosis, Developmental cataract ORPHA:1865
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Ptosis, Proptosis, Hypertelorism OMIM:613385
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Cole-Carpenter Syndrome
Proptosis, Downslanted palpebral fissures ORPHA:2050
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Developmental cataract, Corneal opacity OMIM:616603
Restrictive Dermopathy 2
Proptosis OMIM:619793
Apert Syndrome
Proptosis, Hypertelorism, Corneal erosion, Downslanted palpebral fissures ORPHA:87
Multiple Sulfatase Deficiency
Cataract, Thick eyebrow, Corneal opacity ORPHA:585
Otospondylomegaepiphyseal Dysplasia
Proptosis, Abnormally ossified vertebrae ORPHA:1427
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ptosis, Proptosis, Hypotelorism, Downslanted palpebral fissures ORPHA:2215
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Abnormal nasolacrimal system morphology, Abnormal eyelid mo... ORPHA:2396
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Proptosis, Hypertelorism OMIM:156400
Prolidase Deficiency
Proptosis, Reduced bone mineral density, Hypertelorism ORPHA:742
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Opacification of the corneal stroma, Upslanted palpebral fissure, Epicanthus, Hypertelo... OMIM:214110
Desbuquois Dysplasia 2
Epicanthus, Advanced ossification of carpal bones, Proptosis, Synophrys OMIM:615777
Fibrochondrogenesis
Proptosis, Hypertelorism, Downslanted palpebral fissures ORPHA:2021
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Proptosis ORPHA:440354
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Proptosis, Downslanted palpebral fissures, Deeply set eye, Nasolacrimal duct obstruct... OMIM:300966
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Proptosis, Downslanted palpebral fissures, Eyelid coloboma, Ptosis, Hypertelorism ORPHA:2211
Tbck-Related Intellectual Disability Syndrome
Thick eyebrow, Upslanted palpebral fissure, Deeply set eye, Epicanthus, Corneal opacity, Osteopor... ORPHA:488632
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Cystinosis
Rickets, Corneal opacity ORPHA:213
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Proptosis, Sclerosis of skull base, Epicanthus, Thin bony cortex, Hypertelorism OMIM:619727
Osteogenesis Imperfecta, Type Viii
Osteopenia, Proptosis, Decreased calvarial ossification, Decreased skull ossification, Type 1 col... OMIM:610915
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Deeply set eye, Hypertelorism, Sclerocornea, Iris coloboma OMIM:243605
Tangier Disease
Ectropion, Opacification of the corneal stroma, Cicatricial ectropion OMIM:205400
Camurati-Engelmann Disease
Proptosis, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:131300
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Proptosis, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count, Increased ... OMIM:259720
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... OMIM:608612
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
Cherubism
Proptosis, Lower eyelid retraction OMIM:118400
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Proptosis, Megalocornea, Downslanted palpebral fissures, Epicanthus, Ptosi... ORPHA:280
Raine Syndrome
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Subperiosteal bone formation, H... OMIM:259775
Beare-Stevenson Cutis Gyrata Syndrome
Proptosis, Downslanted palpebral fissures, Ptosis, Hypertelorism, Craniosynostosis OMIM:123790
Bohring-Opitz Syndrome
Epicanthus, Proptosis, Upslanted palpebral fissure, Hypertelorism OMIM:605039
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Posterior subcapsular cataract, Proptosis, Megalocornea, Downslanted palpebral fissur... ORPHA:536471
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Proptosis OMIM:617895
Erdheim-Chester Disease
Proptosis, Xanthelasma, Ptosis, Increased bone mineral density, Osteolysis ORPHA:35687
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Proptosis, Hypertelorism, Downslanted palpebral fissures OMIM:235255
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Proptosis, Upslanted palpebral fissure, Almond-shaped palpebral fissure, D... ORPHA:177907
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma ORPHA:425
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Osteolysis, Corneal erosion ORPHA:1764
Localized Scleroderma
Sclerosis of finger phalanx, Proptosis, Abnormal bone structure, Deeply set eye ORPHA:90289
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Proptosis... OMIM:101200
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Blomstrand Lethal Chondrodysplasia
Cataract, Telecanthus, Proptosis, Increased bone mineral density ORPHA:50945
Congenital Myopathy 17
Telecanthus, Ptosis, Proptosis, Downslanted palpebral fissures OMIM:618975
Baller-Gerold Syndrome
Epicanthus, Proptosis, Hypotelorism, Hypertelorism ORPHA:1225
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Osteopenia, Proptosis, Upslanted palpebral fissure OMIM:620663
Xylt1-Cdg
Proptosis, Synophrys ORPHA:370930
Lcat Deficiency
Corneal opacity ORPHA:650
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Corneal opacity OMIM:163200
Dural Sinus Malformation
Chemosis, Proptosis ORPHA:97339
Mandibuloacral Dysplasia With Type B Lipodystrophy
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... ORPHA:90154
Pycnodysostosis
Coronal craniosynostosis, Proptosis, Generalized osteosclerosis, Increased bone mineral density, ... ORPHA:763
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Advanced ossification of carpal bones, Proptosis OMIM:615349
Saul-Wilson Syndrome
Cataract, Proptosis OMIM:618150
Robinow Syndrome, Autosomal Dominant 3
Proptosis, Long eyelashes, Telecanthus, Upslanted palpebral fissure, Epicanthus, Hypertelorism OMIM:616894
Farber Disease
Osteoporosis, Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Ectropion ORPHA:2719
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Proptosis, Epicanthus, Hypertelorism, Craniosynostosis ORPHA:457395
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Rickets OMIM:219900
Cornelia De Lange Syndrome 1
Highly arched eyebrow, Microcornea, Proptosis, Long eyelashes, Curly eyelashes, Astigmatism, Ptos... OMIM:122470
Chime Syndrome
Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Hypertelorism, Osteolysis ORPHA:3474
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Opacification of the corneal stroma, Corneal opacity OMIM:253010
Loeys-Dietz Syndrome 5
Proptosis, Downslanted palpebral fissures, Long palpebral fissure, Ptosis, Hypertelorism OMIM:615582
Branchioskeletogenital Syndrome
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Telecanthus, Blepharochalasis, ... ORPHA:1299
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Osteoglophonic Dysplasia
Osteopenia, Proptosis, Downslanted palpebral fissures, Telecanthus, Shallow orbits, Hypertelorism... OMIM:166250
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Proptosis, Upslanted palpebral fissure, Hypertelorism, Osteoporosis, Unilateral p... ORPHA:3063
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Proptosis OMIM:207410
Fibrochondrogenesis 1
Proptosis, Megalocornea OMIM:228520
Mosaic Trisomy 9
Hypertelorism, Upslanted palpebral fissure, Hypotelorism, Corneal opacity ORPHA:99776
Fanconi Anemia
Cataract, Short palpebral fissure, Proptosis, Astigmatism, Aplasia/Hypoplasia of the iris, Almond... ORPHA:84
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Corneal opacity ORPHA:584
Spondyloepiphyseal Dysplasia, Maroteaux Type
Generalized osteoporosis, Opacification of the corneal stroma OMIM:184095
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Proptosis, Coarse metaphyseal trabecularization, Thickened cortex of long bones, Hypertelorism, I... OMIM:620558
Congenital Sialidosis Type 2
Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Hypertelo... OMIM:617011
Congenital Myopathy 22B, Severe Fetal
Proptosis, Synophrys, Deeply set eye, Downslanted palpebral fissures OMIM:620369
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Acrocardiofacial Syndrome
Long eyelashes, Proptosis, Hypertelorism ORPHA:2008
Donohue Syndrome
Proptosis OMIM:246200
14Q22Q23 Microdeletion Syndrome
Proptosis, Downslanted palpebral fissures, Epicanthus, Ptosis, Hypertelorism ORPHA:264200
Thanatophoric Dysplasia Type 1
Proptosis ORPHA:1860
Campomelic Dysplasia
Proptosis, Hypertelorism, Poorly ossified cervical vertebrae ORPHA:140
Holoprosencephaly 3
Cyclopia, Proptosis, Hypotelorism OMIM:142945
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Hennekam-Beemer Syndrome
Proptosis, Upslanted palpebral fissure ORPHA:2135
Arboleda-Tham Syndrome
Highly arched eyebrow, Proptosis, Sparse medial eyebrow, Thin eyebrow, Upper eyelid edema, Lacrim... OMIM:616268
Machado-Joseph Disease Type 1
Proptosis ORPHA:276238
Machado-Joseph Disease Type 2
Proptosis ORPHA:276241
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Ptosis, Proptosis ORPHA:228426
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyelashes, Coronal craniosynostosis, Absent eyebrow, Proptosis ORPHA:85199
Autosomal Dominant Robinow Syndrome
Proptosis, Downslanted palpebral fissures, Long eyelashes, Curly eyelashes, Upslanted palpebral f... ORPHA:3107
Scheie Syndrome
Corneal opacity ORPHA:93474
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Eyelid coloboma, Hypoplasia of the iris OMIM:613001
Mosaic Trisomy 8
Hypertelorism, Deeply set eye, Corneal opacity ORPHA:96061
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Corneal opacity ORPHA:582
Autosomal Recessive Robinow Syndrome
Proptosis, Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral fissure, Long palp... ORPHA:1507
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Broad eye... ORPHA:457359
Smith-Lemli-Opitz Syndrome
Cataract, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus, Pto... ORPHA:818
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Corneal opacity ORPHA:354
Igg4-Related Dacryoadenitis And Sialadenitis
Proptosis, Abnormality of the extraocular muscles, Keratoconjunctivitis sicca, Abnormality of the... ORPHA:79078
Ocular Cystinosis
Corneal crystals ORPHA:411641
Neuroblastoma
Proptosis, Horner syndrome ORPHA:635
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Proptosis OMIM:612301
Moebius Syndrome
Epicanthus, Ptosis, Blepharitis, Corneal opacity ORPHA:570
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Microcornea, Proptosis, Osteoporosis, Craniosynostosis ORPHA:536467
Machado-Joseph Disease Type 3
Proptosis ORPHA:276244
Pseudoaminopterin Syndrome
Highly arched eyebrow, Proptosis, Epicanthus, Sagittal craniosynostosis, Blepharophimosis, Patchy... ORPHA:221120
Bartsocas-Papas Syndrome 1
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Pterygium, Lower eyelid coloboma, Upsla... OMIM:263650
Pfeiffer Syndrome Type 2
Proptosis, Hypertelorism ORPHA:93259
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Proptosis OMIM:215150
Scheie Syndrome
Corneal opacity OMIM:607016
Congenital Disorder Of Deglycosylation 1
Ptosis, Corneal opacity, Hypertelorism, Osteoporosis, Corneal ulceration OMIM:615273
Mucopolysaccharidosis, Type Vii
Epicanthus, Thick eyebrow, Corneal opacity OMIM:253220
Noonan Syndrome
Osteopenia, Proptosis, Downslanted palpebral fissures, Ptosis, Blue irides, Hypertelorism ORPHA:648
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Proptosis, Shallow orbits OMIM:620029
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Thin eyebrow, Telecanthus, Corneal opacity, Hypertelorism, Synophrys OMIM:608670
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Proptosis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the dista... OMIM:248370
Pfeiffer Syndrome Type 3
Proptosis, Hypertelorism ORPHA:93260
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Microcornea, Telecanthus, Epicanthus, Sagi... OMIM:201000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Proptosis, Upslanted palpebral fissure, Hypotelorism, Abnormality of the orbital region, Craniosy... ORPHA:468631
Histiocytosis-Lymphadenopathy Plus Syndrome
Proptosis, Corneal arcus, Downslanted palpebral fissures OMIM:602782
Marshall-Smith Syndrome
Highly arched eyebrow, Proptosis, Thick eyebrow, Shallow orbits, Large sternal ossification cente... OMIM:602535
Alg9-Cdg
Proptosis, Telecanthus, Shallow orbits, Abnormal bone ossification, Hypertelorism ORPHA:79328
Wiedemann-Rautenstrauch Syndrome
Cataract, Sparse eyebrow, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure,... OMIM:264090
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Absent eyebrow, Corneal opacity, Ablepharon, Corneal erosion ORPHA:920
Elsahy-Waters Syndrome
Cataract, Proptosis, Downslanted palpebral fissures, Megalocornea, Thick eyebrow, Hypertelorism, ... OMIM:211380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Long eyelashes, Thick... ORPHA:444077
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Thick eyebrow, Ptosis, Hypertel... ORPHA:1519
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Long eyelashes, Broad eyebrow, Keratoconjunctivitis sicca, Corneal opacity, Bupht... ORPHA:495875
Mosaic Variegated Aneuploidy Syndrome
Cataract, Downslanted palpebral fissures, Epicanthus, Corneal opacity, Osteolysis ORPHA:1052
Whipple Disease
Proptosis ORPHA:3452
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Cerebrotendinous Xanthomatosis
Osteopenia, Proptosis, Juvenile cataract, Abnormal eyelid morphology, Osteoporosis ORPHA:909
Schimke Immuno-Osseous Dysplasia
Corneal opacity ORPHA:1830
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Proptosis, Deeply set eye ORPHA:508533
Mucopolysaccharidosis Type 3
Cataract, Craniofacial hyperostosis, Corneal opacity, Opacification of the corneal stroma, Reduce... ORPHA:581
Fucosidosis
Corneal opacity ORPHA:349
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cataract, Proptosis, Thick eyebrow, Upslanted palpebral fissure, Juvenile cataract, Deeply set ey... OMIM:619475
Larsen Syndrome
Multiple carpal ossification centers, Hypertelorism, Shallow orbits, Corneal opacity OMIM:150250
Robinow Syndrome, Autosomal Recessive 1
Proptosis, Downslanted palpebral fissures, Long eyelashes, Upslanted palpebral fissure, Epicanthu... OMIM:268310
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Proptosis, Upslanted palpebral fissure, Bilateral ptosis, Downslanted palpebral fissures ORPHA:163979
Focal Dermal Hypoplasia
Ectopia lentis, Coarse metaphyseal trabecularization, Hypoplasia of the iris, Corneal opacity, Ir... ORPHA:2092
Familial Gestational Hyperthyroidism
Proptosis ORPHA:99819
Ogden Syndrome
Palpebral thickening, Sparse eyebrow, Proptosis, Downslanted palpebral fissures, Bilateral ptosis... OMIM:300855
Neurofibromatosis Type 1
Cataract, Osteopenia, Proptosis, Heterochromia iridis, Lisch nodules, Abnormal eyelid morphology,... ORPHA:636
Fryns Syndrome
Hypertelorism, Corneal opacity ORPHA:2059
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Proptosis, Osteomalacia, Downslanted palpebral fissures, Thin eyebrow, Loss ... ORPHA:2636
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Trichohepatoenteric Syndrome 1
Proptosis, Hypertelorism, Downslanted palpebral fissures OMIM:222470
Stickler Syndrome
Cataract, Ectopia lentis, Proptosis, Telecanthus, Astigmatism, Epicanthus, Hypertelorism, Reduced... ORPHA:828
Rubinstein-Taybi Syndrome 1
Cataract, Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Long eyelashes, Thick... OMIM:180849
Meier-Gorlin Syndrome 7
Thin eyebrow, Craniosynostosis, Sagittal craniosynostosis, Proptosis OMIM:617063
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Epiphyseal stippling, Opacification of the corneal stroma, Upslanted palpebral fissure,... OMIM:214100
Lathosterolosis
Cataract, Microcornea, Downslanted palpebral fissures, Epicanthus, Ptosis, Opacification of the c... ORPHA:46059
Incontinentia Pigmenti
Cataract, Keratitis, Osteolysis, Corneal opacity ORPHA:464
Yunis-Varon Syndrome
Cataract, Sparse eyebrow, Proptosis, Upslanted palpebral fissure, Decreased skull ossification, S... ORPHA:3472
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Proptosis, Reduced bone mineral density, Abnormal bone ossification ORPHA:93315
Fabry Disease
Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Reduced bone mineral... ORPHA:324
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Proptosis ORPHA:424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Xeroderma Pigmentosum
Cataract, Craniofacial hyperostosis, Ankyloblepharon, Keratitis, Pterygium, Conjunctival telangie... ORPHA:910
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Proptosis, Telecanthus, Ptosis, Blepharophimosis, Hypertelorism OMIM:208150
Hyperthyroidism, Nonautoimmune
Proptosis OMIM:609152
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Peripheral Primitive Neuroectodermal Tumor
Proptosis ORPHA:370348
Zygomycosis
Chemosis, Ptosis, Proptosis, Osteolysis ORPHA:73263
Degcags Syndrome
Osteopenia, Proptosis, Abnormal eyebrow morphology, Long eyelashes, Hypotelorism, Ptosis, Abnorma... OMIM:619488
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Catel-Manzke Syndrome
Nasolacrimal duct obstruction, Proptosis, Thin eyebrow, Upslanted palpebral fissure, Hypertelorism OMIM:616145
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Proptosis, Ectopia lentis, Delayed proximal femoral epiphyseal ossification, Osteoporosis, Advanc... OMIM:271640
Roberts Syndrome
Proptosis, Cataract, Craniosynostosis, Hypertelorism ORPHA:3103
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Proptosis, Ectopia pupillae, Rieger anomaly, Epicanthus, Ptosis, Abnormal ... OMIM:194190
Phace Syndrome
Cataract, Heterochromia iridis, Ptosis, Sclerocornea, Lens coloboma, Iris coloboma, Abnormality o... ORPHA:42775
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Proptosis, Osteopenia, Craniosynostosis, Hypertelorism OMIM:130070
Waldenström Macroglobulinemia
Proptosis ORPHA:33226
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Lacrimal duct atresia OMIM:300952
Hurler Syndrome
Thick eyebrow, Corneal opacity ORPHA:93473
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sparse eyebrow, Proptosis, Osteolytic defects of the phalanges of the hand, Shallow o... OMIM:619127
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Epicanthus, Ptosis, Hypertelorism, Opacification of the corneal... OMIM:251300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Fraser Syndrome 1
Lacrimal duct aplasia, Cryptophthalmos, Absent eyelashes, Upper eyelid coloboma, Absent eyebrow, ... OMIM:219000
Meester-Loeys Syndrome
Proptosis, Hypertelorism, Downslanted palpebral fissures OMIM:300989
Atelosteogenesis, Type I
Proptosis, Hypertelorism OMIM:108720
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Deeply set eye, Astigmatism, Corneal opacity ORPHA:464311
Bohring-Opitz Syndrome
Proptosis, Hypertelorism, Synophrys ORPHA:97297
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Thin eyebrow, Astigmatism, Abnormal nasolacrimal system morphology, Absent eyebrow, Ab... ORPHA:2273
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Osteomalacia, Abnormal pupil morphology, Upslanted palpebral fissure, Deep... ORPHA:534
Fontaine Progeroid Syndrome
Coronal craniosynostosis, Short palpebral fissure, Proptosis, Aplastic/hypoplastic lacrimal gland... OMIM:612289
Loeys-Dietz Syndrome 1
Ectopia lentis, Proptosis, Downslanted palpebral fissures, Ptosis, Hypertelorism, Craniosynostosis