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Gene: Rfxap MGI:2180854

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Gene Summary

Name:
regulatory factor X-associated protein
Synonyms:
5730495K23Rik

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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
narrow eye opening Rfxapem1(IMPC)J HOM Early adult 7.66×10-05
hyperactivity Rfxapem1(IMPC)J HOM   Early adult 4.45×10-08
corneal vascularization Rfxapem1(IMPC)J HOM Early adult 4.00×10-07
decreased circulating glucose level Rfxapem1(IMPC)J HOM   Early adult 8.30×10-05
corneal opacity Rfxapem1(IMPC)J HOM Early adult 1.18×10-06
abnormal auditory brainstem response Rfxapem1(IMPC)J HOM   Early adult 4.01×10-07
sclerocornea Rfxapem1(IMPC)J HOM Early adult 1.31×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

6 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

5 Images

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Electroretinography 3

Fundus file

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

14 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rfxap mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
OMIM:209920

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon OMIM:611038
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc... OMIM:614170
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Microphthalmia/Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Low-set ears, Ptosis, Macrotia, Sclerocornea, Na... OMIM:615145
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Aniridia 1
Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Morquio Syndrome C
Corneal opacity OMIM:252300
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Corneal dystrophy, Microcornea, Hearing impairment, Sclerocornea, Cataract, Kerat... ORPHA:1806
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal erosion, Corneal dystrophy, Corneal opacity, Opacification of the cornea... OMIM:608470
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... ORPHA:83461
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Rodrigues Blindness
Protruding ear, Microcornea, Sclerocornea OMIM:268320
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Corneal neovascularization, Entropion, Sensorineural hearing impairment, Keratitis, Co... OMIM:278730
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
8Q21.11 Microdeletion Syndrome
Corneal opacity, Low-set ears, Hearing impairment, Ptosis, Iris hypopigmentation, Downslanted pal... ORPHA:284160
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Sensorineural hearing impairment, Corneal opacity, Posterior embryotoxon, Ptosis, ... ORPHA:1473
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Upper eyelid coloboma, Abnormal eyelid morphology, Conductive hearing impairment, Sc... ORPHA:2095
Microphthalmia With Brain And Digit Anomalies
Sensorineural hearing impairment, Microcornea, Sclerocornea, Cataract, Iris coloboma ORPHA:139471
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Stickler Syndrome Type 2
Cataract, Sensorineural hearing impairment, Corneal opacity ORPHA:90654
3Q29 Microduplication Syndrome
Aniridia, Low-set ears, Hearing impairment, Downslanted palpebral fissures, Sclerocornea, Catarac... ORPHA:251038
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Telecanthus, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hype... OMIM:619927
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Long eyelashes, Cryptophthalmos, Sclerocornea, Ectopia pupillae, Epicanthus, Cataract OMIM:615877
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr... ORPHA:293603
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Protruding ear, Sensorineural hearing impairment, Low-set ears, Ptosis, ... OMIM:614230
Gómez-López-Hernández Syndrome
Low-set ears, Corneal opacity, Telecanthus ORPHA:1532
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Mietens Syndrome
Cataract, Microcornea, Sclerocornea, Corneal opacity ORPHA:2557
Winchester Syndrome
Corneal opacity OMIM:277950
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity, Epicanthus ORPHA:85288
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Nasolacrimal duct obstruction, Microc... OMIM:612109
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Abnormal auditory evoked potentials, Long eyelashes, Ptosis, Downslanted palpebral f... OMIM:617523
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Absent internal auditory canal, Corneal opacity, Long palpebral fissure, P... OMIM:620469
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Protruding ear, Myopic astigmatism, Microcornea, Corneal o... OMIM:152950
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Lacrimal duct atresia, Cardiac arrest, Ventricular fibrillation, Scl... OMIM:300952
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Microtia, Corneal opacity, Synophrys, Long palpebral fissure, ... OMIM:602562
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hearing impairment, Sclerocornea, Iris coloboma ORPHA:77298
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio... OMIM:618815
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior, Tortuosity of conjunctival vessels OMIM:248510
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Keratoconjunctivitis, Hearing impairment, Cataract, Opacifica... OMIM:158310
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Sclerocornea, Eyelid coloboma, Hypoplasia of the iris OMIM:613001
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior ORPHA:75858
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Corneal neovascularization, Keratoconjunctivitis sicca OMIM:617388
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Stromme Syndrome
Optic nerve hypoplasia, Microcornea, Low-set ears, Sclerocornea, Cataract, Peters anomaly, Iris c... OMIM:243605
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Low-set ears, Antecubital pterygium, Ov... OMIM:619339
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation, Hypsarrhythmia OMIM:619970
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Kid Syndrome
Corneal neovascularization, Prelingual sensorineural hearing impairment, Corneal erosion, Aplasti... ORPHA:477
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy, Unilateral ptosis OMIM:300928
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness, Low-set ear... OMIM:618175
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Telecanthus, Sensorineural hearing impairment, Abnormal auditory evok... OMIM:109120
Erythrokeratodermia Variabilis
Protruding ear, Corneal opacity, Hearing impairment, Cataract, Diabetes mellitus ORPHA:317
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Low-set, posteriorly rotated ears ORPHA:2370
Generalized Eruptive Keratoacanthoma
Ectropion, Dysphagia, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Norrie Disease
Optic atrophy, Buphthalmos, Sensorineural hearing impairment, Corneal opacity, Hypoplasia of the ... OMIM:310600
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Corneal opac... ORPHA:1794
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Norrie Disease
Optic atrophy, Protruding ear, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, ... ORPHA:649
Xq25 Microduplication Syndrome
Abnormality of the palpebral fissures, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Epic... ORPHA:521258
Hurler-Scheie Syndrome
Corneal opacity, Sensorineural hearing impairment, Cardiomyopathy, Abnormal nerve conduction velo... ORPHA:93476
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Bilateral ptosis, Temporal optic disc pallor, Sensorineural hearing impairment, Ca... ORPHA:1215
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Neurocardiofaciodigital Syndrome
Hearing impairment, Sparse eyebrow, Sclerocornea, Cataract, Narrow palpebral fissure, Optic disc ... OMIM:619869
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Mixed hearing impairment, Hypoplasia of t... ORPHA:2363
Wagro Syndrome
Agitation, Aniridia, Hypertension, Corneal opacity, Compulsive behaviors, Polyphagia, Low-set ear... OMIM:612469
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Phace Syndrome
Abnormality of the orbital region, Optic nerve hypoplasia, Heterochromia iridis, Ptosis, Scleroco... ORPHA:42775
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:610021
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Hearing impairment, Sclerocornea, Arrhythmia, Cataract, Peters anoma... OMIM:309801
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Telecanthus, Abnormal eyelash morphology, Corneal opaci... ORPHA:2399
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Upslanted pa... OMIM:617183
Short Syndrome
Abnormal anterior chamber morphology, Telecanthus, Sensorineural hearing impairment, Corneal opac... ORPHA:3163
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia, Impulsivity OMIM:617113
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Smith-Lemli-Opitz Syndrome
Optic atrophy, Aganglionic megacolon, Low-set, posteriorly rotated ears, Sensorineural hearing im... ORPHA:818
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Wolf-Hirschhorn Syndrome
Chronic otitis media, Optic atrophy, Low-set, posteriorly rotated ears, Highly arched eyebrow, Mi... ORPHA:280
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Microphthalmia With Linear Skin Defects Syndrome
Abnormal earlobe morphology, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology,... ORPHA:2556
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre... ORPHA:98973
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Faci... OMIM:620141
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Bilateral ptosis, Corneal neovascularization, Corneal scarring, Impaired oral bolu... ORPHA:404454
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hearing impairment, Iris hypopigmentation, Cataract, Hypoglycemia ORPHA:67048
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Hyperactivity, Ptosis, Hyperopic astigmatism, Blepharophimosis ORPHA:397973
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Corneal opacity, Sparse eyelashes, Blepharitis, Sparse eyebrow OMIM:602400
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Hearing impairment OMIM:144300
Van Den Ende-Gupta Syndrome
Small earlobe, Overfolded helix, Abnormal eyebrow morphology, Sclerocornea, Posteriorly rotated e... OMIM:600920
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Microphthalmia, Syndromic 3
Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural hearing impairm... OMIM:206900
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Alpha-Mannosidosis
Chronic otitis media, Abnormal helix morphology, Corneal opacity, Hearing impairment, Macrotia, T... ORPHA:61
Congenital Rubella Syndrome
Sensorineural hearing impairment, Corneal opacity, Type I diabetes mellitus, Cataract, Aplasia/Hy... ORPHA:290
Bartsocas-Papas Syndrome
Popliteal pterygium, Sparse or absent eyelashes, Corneal opacity, Eyelid coloboma, Aplasia/Hypopl... ORPHA:1234
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow, Epicanthus OMIM:300979
22Q11.2 Deletion Syndrome
Chronic otitis media, Optic atrophy, Gastrointestinal hemorrhage, Corneal neovascularization, Aga... ORPHA:567
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Corneal scarring, Abnormal autonom... OMIM:256800
Phenylketonuria
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Cataract, Blue iri... OMIM:261600
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Combined Oxidative Phosphorylation Deficiency 47
Sensorineural hearing impairment, Low-set ears, Ptosis, Posteriorly rotated ears, Dysphagia, Cata... OMIM:618958
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopathy, Cataract, Up... ORPHA:496790
Gand Syndrome
Hyperactivity, Inappropriate laughter, Tics, Narrow palpebral fissure, Blepharophimosis OMIM:615074
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia, Telecanthus ORPHA:1064
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Low-set ears, Hypoplasia of the iris, Hear... ORPHA:96125
Sialidosis Type 2
Hearing impairment, Corneal opacity ORPHA:87876
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... OMIM:175780
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Telecanthus, Hyperactivity, Almond-shaped palpebral fissure, Macrotia, Downslanted palpebral fiss... OMIM:620292
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Synophrys, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Multiple Sulfatase Deficiency
Optic atrophy, Sensorineural hearing impairment, Corneal opacity, Thick eyebrow, Cataract, Abnorm... ORPHA:585
Meckel Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Microcornea, Sclerocornea, Cataract, Aplasia/Hy... ORPHA:564
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Astigmatism, Hyperactivity, Optic nerve hypoplasia, Long palpebral fi... ORPHA:363686
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior OMIM:615516
Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity, Aortic regurgitation, Abnormal nerve conductio... ORPHA:93474
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Iris hypopigmentation, Inappropriate laughter, EEG abnormality ORPHA:411515
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Telecanthus, Hyperactivity, Epicanthus, Upslanted palpebral fissure, Aggr... OMIM:615286
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Chromosome Xq13 Duplication Syndrome
Short palpebral fissure, Medial flaring of the eyebrow, Recurrent otitis media, Hyperactivity, Hi... OMIM:301069
3Mc Syndrome 3
Highly arched eyebrow, Abnormal pinna morphology, Corneal opacity, Auricular pit, Hearing impairm... OMIM:248340
Yunis-Varon Syndrome
Abnormal pinna morphology, Hypertension, Cardiomyopathy, Low-set ears, Pulmonary arterial hyperte... ORPHA:3472
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Synophrys, Cataract, Optic... OMIM:619260
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Cataract,... ORPHA:812
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, EEG with generalized epileptiform discharges,... OMIM:619827
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Recurrent otitis media, Aortic regurgitation, Sensorineural hearing imp... ORPHA:423461
Zellweger Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal pinna morphology, Corneal opacity, Post... ORPHA:912
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Sensorineural hearing impairment, Stereotypical hand wringi... OMIM:600430
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Multifocal epileptiform discharges, Ocular anterior segment dysgenesis, Agitation, Hyperactivity,... ORPHA:369891
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Hyphema, Shallow anterior chamber, L... OMIM:221900
Cystinosis
Polydipsia, Corneal opacity, Portal hypertension, Motor stereotypy, Type I diabetes mellitus ORPHA:213
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mucolipidosis Type Iv
EEG abnormality, Corneal opacity ORPHA:578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Astigmatism, EEG with spike-wave complexes, Hyperactivity, Abnormal a... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Synophrys, Uplifted earlobe, Upslanted palpebral fissure OMIM:300143
Juvenile Sialidosis Type 2
Optic atrophy, Corneal opacity, Low-set ears, Hearing impairment, Dysphagia, Cataract ORPHA:93399
Digeorge Syndrome
Short palpebral fissure, Recurrent otitis media, Low-set ears, Posterior embryotoxon, Sclerocorne... OMIM:188400
Oculocerebrocutaneous Syndrome
Abnormal pinna morphology, Corneal opacity, Hearing impairment, Ptosis, Eyelid coloboma, Iris col... ORPHA:1647
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Microphthalmia/Coloboma 12
Optic nerve aplasia, Peters anomaly, Corneal opacity, Optic disc coloboma OMIM:120200
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Aortic regurgitation, Corneal opacity, Cataract, Optic disc pallor ORPHA:309288
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment OMIM:256540
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Telecanthus, Optic nerve hypoplasia, Corneal opacity, Low-set ears, Pulmonic stenosi... OMIM:301056
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Tangier Disease
Ectropion, Facial diplegia, Cicatricial ectropion, Opacification of the corneal stroma, Myocardia... OMIM:205400
Microphthalmia, Syndromic 6
Orbital cyst, Microcornea, Low-set ears, Hearing impairment, Macrotia, Uplifted earlobe, Scleroco... OMIM:607932
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Low-set ears, Downslanted palpebral fissures, Posteriorly rotated ears, Self-injur... OMIM:601853
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract OMIM:221800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Absent eyelashes, ... OMIM:308205
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Congenital Sialidosis Type 2
Optic atrophy, Corneal opacity, Low-set ears, Hearing impairment, Developmental cataract, Catarac... ORPHA:93400
Scheie Syndrome
Aortic valve stenosis, Mitral stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Prelingual sensorineural hearing impairment, Hyperactivity, Sensorin... ORPHA:73272
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma, Xanthelasma ORPHA:425
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Ocular anterior segment dysgenesis, Telecanthus, Sensorineural hearing i... OMIM:612582
Axenfeld-Rieger Syndrome, Type 2
Telecanthus, Microcornea, Hearing impairment, Opacification of the corneal stroma, Anterior chamb... OMIM:601499
Hypercholesterolemia, Familial, 3
Corneal arcus, Xanthelasma OMIM:603776
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp... OMIM:617600
Proboscis Lateralis
Nasolacrimal duct obstruction, Orbital cyst, Microcornea, Abnormal nasolacrimal system morphology... ORPHA:141099
Hypercholesterolemia, Familial, 1
Corneal arcus, Xanthelasma OMIM:143890
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ectropion, Sensorineural hearing impairment, Corneal opacity, Iris hypopigmentation, Cataract, EE... ORPHA:2719
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... ORPHA:163681
Lowry-Maclean Syndrome
Developmental glaucoma, Low-set ears, Corneal opacity, Megalocornea, Downslanted palpebral fissures ORPHA:2409
Lcat Deficiency
Corneal opacity ORPHA:650
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Low-set ears, Developmental cataract, Protruding ear OMIM:616603
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mend Syndrome
Telecanthus, Hyperactivity, Abnormal auditory evoked potentials, Low-set ears, Aortic valve steno... ORPHA:401973
Fabry Disease
Anorexia, Congestive heart failure, Optic atrophy, Cornea verticillata, Angina pectoris, Sensorin... ORPHA:324
Hypercholesterolemia, Familial, 2
Corneal arcus, Xanthelasma OMIM:144010
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Hyperactivity, Sensorineural hearing impairment, ... ORPHA:581
Moebius Syndrome
Corneal opacity, Facial palsy, Hearing impairment, Ptosis, Blepharitis, Dysphagia, Epicanthus ORPHA:570
Walker-Warburg Syndrome
Optic atrophy, Protruding ear, Microcornea, Corneal opacity, Low-set ears, Posteriorly rotated ea... ORPHA:899
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Low-set ears, Long eye... ORPHA:495875
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Hypertension, Corneal opacity, Heterochr... ORPHA:1764
Yunis-Varon Syndrome
Protruding ear, Small earlobe, Microtia, Sensorineural hearing impairment, Cardiomyopathy, Low-se... OMIM:216340
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Arthrogryposis, Distal, Type 2A
Telecanthus, Abnormal auditory evoked potentials, Hearing impairment, Ptosis, Epicanthus, Blephar... OMIM:193700
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Telecanthus, Small earlobe, Corneal opacity, Synophrys, Hearing impairme... ORPHA:364577
Ocular Cystinosis
Corneal crystals ORPHA:411641
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Juvenile cataract, Abnormal eyelid... ORPHA:909
Orthostatic Hypotension 2
Hypoglycemia, Orthostatic hypotension OMIM:618182
Hurler-Scheie Syndrome
Corneal opacity, Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma OMIM:169550
Angelman Syndrome
Optic atrophy, Astigmatism, Tongue thrusting, Hyperactivity, Keratoconus, Recurrent hand flapping... ORPHA:72
Hurler Syndrome
Bilateral ptosis, Recurrent otitis media, Aortic regurgitation, Corneal opacity, Cardiomyopathy, ... OMIM:607014
Fucosidosis
Hearing impairment, Corneal opacity ORPHA:349
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Palpebral edema, Abnormal helix morphology, Epicanthus, Brushfield spots, ... OMIM:214110
Gm1 Gangliosidosis
Optic atrophy, Congestive heart failure, Corneal opacity, Cardiomyopathy, Low-set ears, Macrotia,... ORPHA:354
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Aortic valve stenosis, Hearing impairment, Opacification of the corneal stroma, ... OMIM:253010
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Hypertension, Recurrent hand fla... ORPHA:449291
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Hearin... OMIM:253220
Trisomy 10P
Short palpebral fissure, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potenti... ORPHA:171929
Tbck-Related Intellectual Disability Syndrome
Sensorineural hearing impairment, Corneal opacity, Synophrys, Pulmonic stenosis, Thick eyebrow, E... ORPHA:488632
Multiple Sulfatase Deficiency
Hearing impairment, Corneal opacity OMIM:272200
Cockayne Syndrome Type 1
Optic atrophy, Hypertension, Absent brainstem auditory responses, Hearing impairment, Macrotia, C... ORPHA:90321
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... ORPHA:580
Wilson Disease
Kayser-Fleischer ring, Hypersexuality, Aggressive behavior ORPHA:905
Hurler Syndrome
Abnormal nerve conduction velocity, Angina pectoris, Hypertension, Corneal opacity, Cardiomyopath... ORPHA:93473
Ablepharon Macrostomia Syndrome
Corneal erosion, Absent eyelashes, Microtia, Corneal opacity, Ablepharon, Absent eyebrow, Cryptop... ORPHA:920
Sanjad-Sakati Syndrome
Abnormal pinna morphology, Astigmatism, Corneal opacity, Low-set, posteriorly rotated ears ORPHA:2323
Oculoectodermal Syndrome
Astigmatism, Hyperactivity, Microcornea, Transient ischemic attack, Hypertrophic cardiomyopathy, ... OMIM:600268
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Corneal opacity, Tricuspid regurgita... OMIM:620519
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Hypertension, Corneal opacity, Cerebral ischemia, Pulm... ORPHA:1830
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Oral-pharyngeal dysphagia, Corneal ulceration, Corne... OMIM:615273
Intellectual Developmental Disorder, Autosomal Dominant 29
Short palpebral fissure, Astigmatism, Hyperactivity, Low-set ears, Frequent temper tantrums, Syno... OMIM:616078
De Barsy Syndrome
Corneal opacity, Low-set ears, Bilateral sensorineural hearing impairment, Downslanted palpebral ... ORPHA:2962
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Mucopolysaccharidosis Type 1
Chronic otitis media, Congestive heart failure, Optic atrophy, Sensorineural hearing impairment, ... ORPHA:579
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Microcornea... OMIM:133540
Incontinentia Pigmenti
Congestive heart failure, Corneal opacity, Cerebral ischemia, Pulmonary arterial hypertension, Re... ORPHA:464
Xeroderma Pigmentosum
Optic atrophy, Ectropion, Entropion, Pterygium, Sensorineural hearing impairment, Conjunctival te... ORPHA:910
Mucopolysaccharidosis Type 4
Hearing impairment, Corneal opacity ORPHA:582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Optic nerve hypoplasia, Microtia, Corneal opacity, Megalocornea, Low-set ears, Atr... OMIM:236670
Mosaic Trisomy 8
Abnormal antihelix morphology, Abnormal pinna morphology, Corneal opacity, Hearing impairment, Ma... ORPHA:96061
Encephalocraniocutaneous Lipomatosis
Abnormal eyelid morphology, Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal ey... ORPHA:2396
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Lip telangiectasia, Hearing impairment, Tinnitus, Telangiectas... ORPHA:79280
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Tangier Disease
Ectropion, Facial diplegia, Corneal opacity ORPHA:31150
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Astigmatism, Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Motor ... ORPHA:464311
Carpenter Syndrome 1
Optic atrophy, Telecanthus, Sensorineural hearing impairment, Microcornea, Abnormal pinna morphol... OMIM:201000
Lathosterolosis
Microcornea, Hearing impairment, Ptosis, Downslanted palpebral fissures, Epicanthus, Cataract, Op... ORPHA:46059
Mogs-Cdg
Optic atrophy, Short palpebral fissure, Sensorineural hearing impairment, Absent brainstem audito... ORPHA:79330
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Aortic regurgitation, Hyperactivity, Corneal opacity, Aortic valve stenosis, Macroti... ORPHA:464306
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Telecanthus, Sensorineural hearing impairment, Corneal opacity, Low-set ... OMIM:608670
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Alpha-Mannosidosis, Infantile Form
Mixed hearing impairment, Astigmatism, Aortic regurgitation, Highly arched eyebrow, Sensorineural... ORPHA:309282
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Shallow orbits OMIM:601812
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Low-set, posteriorly rotated ears, Corneal opacity, Hearing impairment, Dow... ORPHA:1052
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Corneal opacity, Ectopia pupillae, Optic disc coloboma, Lens subluxation OMIM:608940
Mosaic Trisomy 9
Low-set ears, Upslanted palpebral fissure, Corneal opacity ORPHA:99776
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Focal Dermal Hypoplasia
Corneal opacity, Low-set ears, Hypoplasia of the iris, Hearing impairment, Ectopia lentis, Telang... ORPHA:2092
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Cornea... ORPHA:536471
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Sinus tachycardia, Corneal opacity, Cardiomyopathy, Pulmonary arterial h... OMIM:253200
Chime Syndrome
Corneal opacity, Hearing impairment, Ptosis, Epicanthus, Upslanted palpebral fissure ORPHA:3474
Hutchinson-Gilford Progeria Syndrome
Hypertension, Corneal opacity, Shallow orbits, Aortic valve stenosis, Low-frequency sensorineural... ORPHA:740
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Ectropion, Cupped ear, Corneal ulceration, Pterygium, Ab... OMIM:263650
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Peroxisome Biogenesis Disorder 1A (Zellweger)
Sensorineural hearing impairment, Abnormal helix morphology, Low-set ears, Hearing impairment, Po... OMIM:214100
Legius Syndrome
Xanthelasma, Hyperactivity, Cataract, Pulmonic stenosis, Hearing impairment, Paroxysmal atrial ta... ORPHA:137605
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Low-set ears OMIM:251290
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation OMIM:252605
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Mucopolysaccharidosis Type 6
Chronic otitis media, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Fryns Syndrome
Aganglionic megacolon, Corneal opacity, Low-set, posteriorly rotated ears ORPHA:2059
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Protruding ear, Low-set, posteriorly rotated ears, Corneal opacity, Compuls... ORPHA:534
Fraser Syndrome 1
Abnormal middle ear morphology, Upper eyelid coloboma, Absent eyelashes, Abnormal pinna morpholog... OMIM:219000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Aganglionic megacolon, Corneal erosion, Abnormal eyelid morphology, Abnormal nasolac... ORPHA:2273
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Palpebral edema, Aortic regurgitation, Sensorineural hearin... OMIM:614866
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Hyperopic astigmatism, Severely reduced left ventricular ej... OMIM:252600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Larsen Syndrome
Hearing impairment, Conductive hearing impairment, Corneal opacity, Shallow orbits OMIM:150250
Kindler Epidermolysis Bullosa
Ectropion, Corneal opacity, Dysphagia, Conjunctivitis ORPHA:2908
Galloway-Mowat Syndrome 1
Optic atrophy, Low-set ears, Hypoplasia of the iris, Ptosis, Macrotia, Epicanthus, Cataract, Opac... OMIM:251300
Neurofibromatosis Type 1
Abnormal eyelid morphology, Hypertension, Corneal opacity, Heterochromia iridis, Attention defici... ORPHA:636
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Schimke Immunoosseous Dysplasia
Astigmatism, Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyper... OMIM:242900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Sensorineural hearing impairment, Spontaneous, recurrent epistaxis, Cor... ORPHA:2072
Williams Syndrome
Chronic otitis media, Sensorineural hearing impairment, Hypertension, Corneal opacity, Cerebral i... ORPHA:904
Autosomal Dominant Cutis Laxa
Congestive heart failure, Aortic regurgitation, Corneal opacity, Low-set ears, Ptosis, Developmen... ORPHA:90348
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Hypertension, Corneal opacity, Car... ORPHA:217085
Mosaic Trisomy 1
Congenital bilateral ptosis, Abnormal pinna morphology, Low-set ears, Downslanted palpebral fissu... ORPHA:1692
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Hypertension, Corneal opacity, Car... ORPHA:217093
Peters Plus Syndrome
Optic atrophy, Short palpebral fissure, Low-set, posteriorly rotated ears, Microcornea, Corneal o... ORPHA:709
Mucopolysaccharidosis, Type Iva
Hearing impairment, Opacification of the corneal stroma OMIM:253000
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Palpebral edema, Recurrent otitis media, Aortic regurgitation, Megaloco... OMIM:252500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Hereditary Acrokeratotic Poikiloderma
Ectropion, Keratoconjunctivitis, Hearing impairment, Telangiectasia of the skin, Opacification of... ORPHA:2907
Thrombocytopenia-Absent Radius Syndrome
Cataract, Ptosis, Corneal opacity OMIM:274000
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Low-set ears, Abnormal autonomic nervous system physiology, Pulmonary ar... OMIM:601559
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Wilson Disease
Sunflower cataract, Decreased nerve conduction velocity, Kayser-Fleischer ring, Glycosuria, Dysph... OMIM:277900
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Recurrent otitis media, Entropion, Absent earlobe, Corneal opacity, Low-set ears, ... ORPHA:3455
Osteogenesis Imperfecta
Mixed hearing impairment, Aortic regurgitation, Progressive hearing impairment, Corneal opacity, ... ORPHA:666
Gaucher Disease
Hearing impairment, Corneal opacity, Dysphagia, Pulmonary arterial hypertension ORPHA:355
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma, EEG abno... OMIM:253280
Roberts-Sc Phocomelia Syndrome
Abnormal pinna morphology, Absent earlobe, Corneal opacity, Low-set ears, Shallow orbits, Downsla... OMIM:268300
Fryns Syndrome
Aganglionic megacolon, Abnormal helix morphology, Low-set ears, Opacification of the corneal stro... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Opacification of the corneal stroma OMIM:615287
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media ORPHA:572
Bare Lymphocyte Syndrome, Type Ii
OMIM:209920

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 Rfxap

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 Rfxap.

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

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
Rfxapem1(IMPC)J Intra-exon deletion Mice

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