Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Trim39 MGI:1890659

Gene Summary

Name:

tripartite motif-containing 39

Synonyms:

1100001D15Rik, Rnf23, E130103K13Rik, RBCC-B30.2, RING-B box-coiled-coil-B30.2, tfp

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lymphocyte cell number	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	5.62×10^-06
corneal opacity	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	4.16×10^-05
abnormal vibrissa morphology	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Middle aged adult	3.78×10^-09
abnormal gait	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Middle aged adult	1.32×10^-06
abnormal vibrissa morphology	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.28×10^-06
abnormal gait	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.91×10^-05
decreased fasting circulating glucose level	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	2.66×10^-06
abnormal auditory brainstem response	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.04×10^-05
fused cornea and lens	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	9.02×10^-06
increased leukocyte cell number	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	3.23×10^-05
decreased locomotor activity	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	1.05×10^-05
absent vibrissae	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Middle aged adult	8.44×10^-07
abnormal retina morphology	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	3.58×10^-06
increased fasting circulating glucose level	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.34×10^-06
increased large unstained cell number	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	7.90×10^-06
corneal vascularization	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	9.01×10^-05
abnormal optic disk morphology	Trim39^{tm1b(EUCOMM)Hmgu}	HOM	Late adult	7.85×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	100% (2 of 2)
Mammary gland	Wholemount images	heterozygote	50% (1 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	Ambiguous
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (3 of 3)
Brain	N/A	homozygote	100% (3 of 3)
Ear	N/A	heterozygote	33.33% (1 of 3)
Ear	N/A	homozygote	33.33% (1 of 3)
Embryo	N/A	heterozygote	100% (3 of 3)
Embryo	N/A	homozygote	100% (3 of 3)
Eye	N/A	heterozygote	100% (3 of 3)
Eye	N/A	homozygote	100% (3 of 3)
Footplate	N/A	heterozygote	66.67% (2 of 3)
Footplate	N/A	homozygote	100% (3 of 3)
Forebrain	N/A	heterozygote	100% (3 of 3)
Forebrain	N/A	homozygote	100% (3 of 3)
Forelimb	N/A	heterozygote	66.67% (2 of 3)
Forelimb	N/A	homozygote	100% (3 of 3)
Handplate	N/A	heterozygote	66.67% (2 of 3)
Handplate	N/A	homozygote	100% (3 of 3)
Head	N/A	heterozygote	100% (3 of 3)
Head	N/A	homozygote	100% (3 of 3)
Heart	N/A	heterozygote	33.33% (1 of 3)
Heart	N/A	homozygote	33.33% (1 of 3)
Hindbrain	N/A	heterozygote	100% (3 of 3)
Hindbrain	N/A	homozygote	100% (3 of 3)
Hindlimb	N/A	heterozygote	66.67% (2 of 3)
Hindlimb	N/A	homozygote	100% (3 of 3)
Liver	N/A	heterozygote	33.33% (1 of 3)
Liver	N/A	homozygote	33.33% (1 of 3)
Lung	N/A	heterozygote	33.33% (1 of 3)
Lung	N/A	homozygote	33.33% (1 of 3)
Mandibular process	N/A	heterozygote	33.33% (1 of 3)
Mandibular process	N/A	homozygote	33.33% (1 of 3)
Maxillary process	N/A	heterozygote	33.33% (1 of 3)
Maxillary process	N/A	homozygote	33.33% (1 of 3)
Midbrain	N/A	heterozygote	100% (3 of 3)
Midbrain	N/A	homozygote	100% (3 of 3)
Oral cavity	N/A	heterozygote	33.33% (1 of 3)
Oral cavity	N/A	homozygote	33.33% (1 of 3)
Skin	N/A	heterozygote	33.33% (1 of 3)
Skin	N/A	homozygote	33.33% (1 of 3)
Tail somite	N/A	heterozygote	0.0% (0 of 3)
Tail somite	N/A	homozygote	33.33% (1 of 3)
Tail	N/A	heterozygote	100% (3 of 3)
Tail	N/A	homozygote	100% (3 of 3)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

68 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Adult LacZ

LacZ Images Wholemount

24 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

Human diseases caused by Trim39 mutations

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

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

Human diseases associated with Trim39 (0 diseases)
Human diseases predicted to be associated with Trim39 (684 diseases)

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

The table below shows human diseases predicted to be associated to Trim39 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ataxia-Oculomotor Apraxia Type 1	Medial flaring of the eyebrow, Ataxia, Gait disturbance	ORPHA:1168
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Ceroid Lipofuscinosis, Neuronal, 9	Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod-cone dystrophy	OMIM:609055
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia	ORPHA:3177
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance	ORPHA:2572
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Optic Atrophy 2	Dysdiadochokinesis, Optic atrophy	OMIM:311050
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance, Optic atrophy	OMIM:311100
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy, Ataxia	OMIM:136600
Spastic Ataxia 7, Autosomal Dominant	Spastic ataxia, Dysdiadochokinesis, Optic atrophy	OMIM:108650
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ...	OMIM:204200
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Olivopontocerebellar Atrophy-Deafness Syndrome	Ataxia, Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Spastic Paraplegia 43, Autosomal Recessive	Loss of ambulation, Optic atrophy, Gait disturbance	OMIM:615043
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Type II diabetes...	OMIM:614296
Leukoencephalopathy With Vanishing White Matter 2	Unsteady gait, Cataract, Optic atrophy	OMIM:620312
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis sicca, Punctat...	OMIM:617388
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance	ORPHA:3151
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Inability to walk, Optic atrophy	OMIM:618572
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d...	OMIM:616188
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Morquio Syndrome C	Corneal opacity	OMIM:252300
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Ataxia	OMIM:614706
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc...	OMIM:278730
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Leber Congenital Amaurosis 4	Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Card...	ORPHA:320360
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Winchester Syndrome	Corneal opacity	OMIM:277950
Spinocerebellar Ataxia, Autosomal Recessive 12	Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration	OMIM:614322
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning, Ataxia	OMIM:618970
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea...	OMIM:158310
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia, Cerulean cataract	OMIM:616732
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	OMIM:251270
Ravine Syndrome	Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developm...	OMIM:617183
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, A...	ORPHA:290
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Leber Hereditary Optic Neuropathy	Ataxia, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuo...	ORPHA:104
Gómez-López-Hernández Syndrome	Corneal opacity, Ataxia	ORPHA:1532
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels	OMIM:614504
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Sialidosis Type 2	Splenomegaly, Ataxia, Corneal opacity, Abnormal macular morphology	ORPHA:87876
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative...	ORPHA:2788
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia	OMIM:610951
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria,...	OMIM:175780
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith...	OMIM:619389
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Hepatos...	ORPHA:309288
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart fail...	ORPHA:49827
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Ataxia	ORPHA:2246
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Cataract, Sensory axonal neuropathy, Ataxia	ORPHA:329314
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Diabetes Mellitus, Permanent Neonatal, 3	Athetosis, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G...	ORPHA:496790
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Inability to walk, Optic atrophy, Corne...	ORPHA:404454
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Cln3 Disease	Cataract, Ataxia, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Bradykinesia, Pi...	ORPHA:228346
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Gl...	ORPHA:411590
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetri...	ORPHA:93400
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Ataxia, Gait disturbance, Retinopathy	ORPHA:578
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive meg...	OMIM:249270
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Gait distur...	ORPHA:812
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Loss of ambulati...	ORPHA:93399
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne...	OMIM:614170
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin...	OMIM:600501
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor...	OMIM:221900
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy, Ataxia	ORPHA:1186
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity, Cardiomyopathy	ORPHA:93476
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr...	OMIM:311070
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Diabetes And Deafness, Maternally Inherited	Sensorineural hearing impairment, Unsteady gait, Type II diabetes mellitus, Hyperglycemia	OMIM:520000
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,...	ORPHA:1215
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Kid Syndrome	Recurrent cutaneous abscess formation, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Co...	ORPHA:477
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Bradykinesia, Optic atrophy, Spastic gait	OMIM:619052
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis	ORPHA:79087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma	OMIM:613153
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos...	ORPHA:98890
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea...	OMIM:618175
Erythrokeratodermia Variabilis	Diabetes mellitus, Cataract, Corneal opacity	ORPHA:317
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Loss of ambulation, ...	OMIM:618241
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Optic atrophy, Coloboma	OMIM:274270
Merrf	Optic atrophy, Ataxia	ORPHA:551
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Rod-cone dystrop...	OMIM:612674
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal autonomic ...	OMIM:598500
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Optic atrophy, Anemia, Leukopenia, Choreoathetosis, Cardiomyopathy, Le...	ORPHA:27
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Spastic Paraplegia 75, Autosomal Recessive	Optic atrophy, Dysmetria, Astigmatism, Loss of ambulation, Spastic gait	OMIM:616680
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy	OMIM:271930
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Fish-Eye Disease	Splenomegaly, Corneal opacity, Angina pectoris	ORPHA:79292
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Optic atrophy, Ketotic hypoglycemia, Cardiomyopathy	ORPHA:26792
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic atrophy, Abno...	ORPHA:585
Leber Congenital Amaurosis 14	Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia	OMIM:619425
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Ataxia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, P...	OMIM:222300
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy, Ataxia	ORPHA:85297
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Leukoencephalopathy With Vanishing White Matter 4	Unsteady gait, Optic atrophy	OMIM:620314
Leukodystrophy, Hypomyelinating, 22	Inability to walk, Optic disc pallor, Astigmatism	OMIM:619328
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity, Type II diabetes mellitus	ORPHA:61
Spinocerebellar Ataxia 7	Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop...	OMIM:164500
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, A...	OMIM:609033
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ...	ORPHA:899
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Corneal opacity, Hypertension	OMIM:166300
Hsd10 Mitochondrial Disease	Hypoglycemia, Optic atrophy, Choreoathetosis, Hypertrophic cardiomyopathy, Retinal degeneration	OMIM:300438
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Optic a...	ORPHA:52368
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Ataxia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dys...	ORPHA:324737
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Optic atrophy, Progressive cerebellar ataxia, Progressive gait a...	ORPHA:1177
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking...	ORPHA:280234
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia	OMIM:618856
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia	OMIM:613672
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Optic atrophy	ORPHA:477814
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-to...	OMIM:614877
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Cataract, Aganglionic megacolon, Retinal arteri...	ORPHA:567
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Dilated cardiomyopathy, Optic atrophy, Gait disturbance, Retinal dysplasia	ORPHA:272
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Brachyolmia Type 1, Toledo Type	Gait disturbance, Opacification of the corneal stroma	OMIM:271630
Intermediate Uveitis	Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ...	ORPHA:279914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Optic atrophy, Anemia, Choreoathetosis, Cardiomyopathy, Neutropenia, Lethargy, Thro...	ORPHA:79312
Spastic Paraplegia 2, X-Linked	Loss of ambulation, Optic atrophy, Spastic gait, Dysmetria	OMIM:312920
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Abnormal cranial nerve morphology, Hypertension, Abnorma...	ORPHA:97229
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria	OMIM:605259
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Cystinosis	Corneal opacity, Portal hypertension, Gait disturbance, Type I diabetes mellitus, Retinopathy	ORPHA:213
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Leber Optic Atrophy And Dystonia	Bradykinesia, Athetosis, Optic atrophy, Leber optic atrophy	OMIM:500001
Spastic Paraplegia 5A, Autosomal Recessive	Spastic gait, Cataract, Optic atrophy, Limb dysmetria	OMIM:270800
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Multiple Sulfatase Deficiency	Ataxia, Corneal opacity, Splenomegaly, Peripheral demyelination, Retinal degeneration	OMIM:272200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Gait ataxia	OMIM:620221
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma	ORPHA:163937
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal...	ORPHA:1764
Infantile Refsum Disease	Cataract, Ataxia, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy	ORPHA:772
Prune1-Related Neurological Syndrome	Cataract, Inability to walk, Optic atrophy, Hypertrophic cardiomyopathy, Retinopathy	ORPHA:544469
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Bradykinesia, Cardiomyopathy, O...	ORPHA:254886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:289916
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res...	ORPHA:3163
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Hypoglycemia, Atria...	ORPHA:137675
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Neurotrophic Keratopathy	Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal ede...	ORPHA:137596
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono...	OMIM:610743
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Wildervanck Syndrome	Facial palsy, Lens subluxation, Pseudopapilledema	ORPHA:3456
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Cataract, Ataxia, Diabetes mellitus, Morning glory anomaly, Optic atrophy, Gai...	ORPHA:98673
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop...	OMIM:308240
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Hypertrophic cardiomyopathy, Cataract	ORPHA:3173
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
4H Leukodystrophy	Cataract, Ataxia, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis	ORPHA:289494
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Glycosuria, ...	OMIM:268315
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, G...	OMIM:601338
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ...	OMIM:256540
Sarcosinemia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Optic atrophy, Ataxia	ORPHA:3129
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt...	OMIM:611490
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Inability to walk, Cataract, Optic atrophy	OMIM:617481
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Narp Syndrome	Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr...	ORPHA:644
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Spinocerebellar Ataxia, Autosomal Recessive 18	Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia	OMIM:616204
Gm1 Gangliosidosis	Corneal opacity, Ataxia, Abnormal retinal vascular morphology, Splenomegaly, Congestive heart fai...	ORPHA:354
Scheie Syndrome	Abnormal nerve conduction velocity, Splenomegaly, Corneal opacity, Aortic regurgitation	ORPHA:93474
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Optic nerve hypoplasia, Abnormal left ventricular function, Leukopenia, Astigmat...	OMIM:301056
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Macular coloboma, Abnormal auditory evoked potentials, Macul...	OMIM:619260
Behr Syndrome	Ataxia, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysmetria, Gait disturbance, Trun...	OMIM:210000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Triple A Syndrome	Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea...	OMIM:610198
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Gait ataxia, Progressive cerebellar ataxia, Optic atrophy, Hepatosplenomegaly	ORPHA:466794
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline	OMIM:617523
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Choroideremia, Anemia, Iris hypopi...	ORPHA:2719
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Thrombocytopenia, Congestive heart failure, Hypertens...	ORPHA:1830
Developmental And Epileptic Encephalopathy 93	Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance	OMIM:618012
Proximal Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic atrophy, Cardiom...	ORPHA:401768
Gm1-Gangliosidosis, Type Iii	Ataxia, Opacification of the corneal stroma	OMIM:230650
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia	ORPHA:99014
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Hypoglycemia, Optic atrophy, Dysmetria, Athetosis, Cardiomyopathy, Rod-cone dystrophy, Th...	OMIM:617710
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:612989
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr...	OMIM:236670
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:607115
Leber Optic Atrophy	Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ...	OMIM:535000
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Eosinophilia, T...	ORPHA:464
Autosomal Recessive Cutis Laxa Type 2A	Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology	ORPHA:357058
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po...	ORPHA:912
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Dysmetria, Progressive cerebella...	ORPHA:363429
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy	ORPHA:254343
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Developmental And Epileptic Encephalopathy 47	Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Attenuation of retin...	OMIM:617166
Joubert Syndrome 28	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:617121
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Isolated Atp Synthase Deficiency	Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Lethargy, Hypertrophic cardi...	ORPHA:254913
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Tangier Disease	Peripheral axonal neuropathy, Myocardial infarction, Splenomegaly, Facial diplegia, Opacification...	OMIM:205400
Antiphospholipid Syndrome, Familial	Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl...	OMIM:107320
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Astigmatism, Dysmetria	ORPHA:459056
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Ataxia, Fluctuating splenomegaly, Thr...	OMIM:610377
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Re...	OMIM:243605
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Cardiomyopathy, Loss of am...	OMIM:620089
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia	OMIM:618858
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot...	ORPHA:99027
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Muscle-Eye-Brain Disease	Cataract, Optic atrophy, Gait disturbance	ORPHA:588
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Farber Disease	Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Macular degeneration, Abnormal conjunctiva...	ORPHA:333
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hurler-Scheie Syndrome	Aortic regurgitation, Corneal opacity, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyp...	OMIM:607015
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d...	ORPHA:206448
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Cataract, Optic atrophy, Microcytic anemia	OMIM:612379
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Transient ischemic attack, Thrombocytopenia, Abnormal T cell morphol...	OMIM:242900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom...	OMIM:256800
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Wilson Disease	Splenomegaly, Anemia, Kayser-Fleischer ring, Difficulty walking, Thrombocytopenia	ORPHA:905
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Optic atrophy, Ataxia, Dysmetria	OMIM:618688
Spastic Paraplegia Type 2	Optic atrophy, Spastic gait, Ataxia, Pulmonary embolism	ORPHA:99015
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Friedreich Ataxia	Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Ga...	OMIM:229300
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia	OMIM:616881
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy, Mitral r...	OMIM:607014
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Necrotizing Enterocolitis	Shock, Leukocytosis, Bradycardia, Abnormal glucose homeostasis, Neutropenia, Hypotension, Letharg...	ORPHA:391673
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re...	OMIM:252600
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Tyrosinemia Type 2	Corneal opacity, Ataxia	ORPHA:28378
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent co...	OMIM:308205
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus	OMIM:606176
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Mucopolysaccharidosis Type 1	Corneal opacity, Splenomegaly, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopat...	ORPHA:579
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis	ORPHA:504476
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Pigmentary retinopathy, Tip-toe gait, Gait disturbance, Rod...	ORPHA:216866
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy, Ataxia	OMIM:618248
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Hypoplasia of the thym...	OMIM:214110
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Inability to walk, Optic atrophy, Sensory axonal neuropathy, Motor axonal neur...	OMIM:609541
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Ataxia, Splenomegaly, Optic atrophy, Atrioventricular block, Pigmentar...	ORPHA:581
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ...	ORPHA:3205
Tangier Disease	Peripheral axonal neuropathy, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Facial diple...	ORPHA:31150
Friedreich Ataxia	Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Optic atrophy, D...	ORPHA:95
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosi...	ORPHA:79456
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Intracrania...	ORPHA:447788
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Decreased distal sensory nerve action potential, Inability to walk, Developmental glauc...	ORPHA:99956
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Insulin-resistant diabetes mellitus, Abnormal optic disc morphology, Decreased...	ORPHA:293967
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Wagro Syndrome	Aniridia, Hypertension, Cataract, Corneal opacity	OMIM:612469
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Ataxia, Hepatos...	ORPHA:309282
Mucopolysaccharidosis, Type Ivb	Ataxia, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma, Aortic valve ...	OMIM:253010
Hurler Syndrome	Corneal opacity, Angina pectoris, Splenomegaly, Cardiomyopathy, Hypertension, Abnormal nerve cond...	ORPHA:93473
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pe...	OMIM:612582
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Cardiom...	OMIM:619259
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at...	OMIM:259710
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Ataxia, Optic atrophy, Pigmentary retinopathy, Gait disturbance, Glycosuria, Hypertrophic cardiom...	ORPHA:436271
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity	ORPHA:584
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ataxia, Chronic myelogenous leuke...	ORPHA:636
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Astigmatism, Gait d...	ORPHA:464311
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,...	ORPHA:90321
Xeroderma Pigmentosum, Complementation Group B	Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia	OMIM:618249
Maternal Uniparental Disomy Of Chromosome 4	Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Dysmetria, Pigmentary ret...	ORPHA:96180
Spinocerebellar Ataxia Type 13	Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Bradykinesia, Difficulty walking	ORPHA:98768
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Difficulty w...	ORPHA:1667
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, De...	ORPHA:580
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short...	OMIM:609136
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, Dilate...	OMIM:615688
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Keratitis, Retinal vascular ...	OMIM:308300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Broad-based gait, Corneal opacity, Spontaneous, recurrent epistaxis, A...	ORPHA:2072
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Hypoglycemia, Megaloblastic anemia, Pulmonary embolism, Thrombocytopeni...	ORPHA:79282
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Optic atrophy, Pigmentary retinopathy, Athetosis, Gait disturbance, Lo...	OMIM:617282
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Ataxia, Optic atrophy, Anisocoria, Abnormal autonomic nervous system phy...	OMIM:231550
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Corneal opacity	OMIM:163200
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Cataract, Tricuspid regurgitation, Brushfield spots, Splenomegaly, Optic ne...	OMIM:614866
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le...	OMIM:259720
De Barsy Syndrome	Cataract, Corneal opacity, Athetosis, Progressive cerebellar ataxia, Abnormal fundus fluorescein ...	ORPHA:2962
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Target cells, Inc...	OMIM:603903
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217085
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Ataxia, Dilated cardiomyopathy, Optic atrophy, Hypochromic microcytic anem...	ORPHA:66634
Cogan Syndrome	Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis, Conjunctiviti...	ORPHA:1467
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Impaired gluconeogenesis, Optic atrophy, Fasting hypoglycemia, Hypoglycemia	OMIM:261680
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Myopic astigmatism, Blue irides, Ocular al...	OMIM:614077
Mucopolysaccharidosis Type 4	Corneal opacity, Gait disturbance	ORPHA:582
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217093
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma	OMIM:251290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Ataxia, Optic atrophy, Pigmentary retinopathy, Glycosuria, Truncal ataxia, Hypertrophic cardiomyo...	OMIM:220110
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Ataxia, Angina pectoris, Myocardial infarction, Difficulty walking, ...	OMIM:213700
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,...	ORPHA:552
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Difficult...	ORPHA:95433
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp...	ORPHA:2556
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop...	OMIM:267750
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Gomez-Lopez-Hernandez Syndrome	Ataxia, Opacification of the corneal stroma	OMIM:601853
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Ataxia, Cardiac arrest, Optic atrophy, Ventricular tachycardia, Gait ataxia, Gait d...	OMIM:616878
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Myocard...	ORPHA:892
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, R...	ORPHA:157850
Focal Dermal Hypoplasia	Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Chorioretina...	ORPHA:2092
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga...	ORPHA:101076
Gaucher Disease	Pancytopenia, Corneal opacity, Ataxia, Thrombocytopenia, Splenomegaly, Abnormal macular morpholog...	ORPHA:355
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos...	OMIM:617718
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H...	OMIM:309801
Fucosidosis	Corneal opacity	ORPHA:349
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Corneal opacity, Astigmatism, Gait disturbance, Aortic v...	ORPHA:464306
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis, Cardiac arrest	ORPHA:139402
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea	OMIM:614230
Biotinidase Deficiency	Ataxia, Splenomegaly, Optic atrophy, Conjunctivitis, Lethargy	OMIM:253260
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Cataract, Retinal atrophy, Retinal dystrophy, Sp...	ORPHA:90324
Carpenter Syndrome 1	Optic atrophy, Microcornea, Polysplenia, Pulmonic stenosis, Opacification of the corneal stroma	OMIM:201000
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Mucopolysaccharidosis, Type Vii	Splenomegaly, Corneal opacity, Cardiomyopathy	OMIM:253220
Isolated Complex I Deficiency	Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemia, Optic neuropathy, Lethargy, Hypertrop...	ORPHA:2609
Chime Syndrome	Corneal opacity, Retinal coloboma, Acute leukemia	ORPHA:3474
Dyggve-Melchior-Clausen Disease	Inability to walk, Corneal opacity, Difficulty walking	ORPHA:239
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity, Hypermyelinated retinal nerve fibers	OMIM:601812
Cockayne Syndrome	Progressive gait ataxia, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Reti...	ORPHA:191
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L...	ORPHA:79330
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral regurgitation, Pul...	OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi...	OMIM:300952
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Kerato...	ORPHA:495875
Proboscis Lateralis	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina...	ORPHA:141099
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Normochromic anemia, Bradycardia, Hypertrophic cardiom...	OMIM:618775
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Gait disturbance	OMIM:259600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Cockayne Syndrome A	Cataract, Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ...	OMIM:216400
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve...	ORPHA:909
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Mosaic Trisomy 9	Asplenia, Corneal opacity	ORPHA:99776
Meckel Syndrome	Accessory spleen, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Asplenia, Optic atro...	ORPHA:564
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Aor...	ORPHA:536471
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ...	ORPHA:67036
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Pulmonary arterial hypertension, Aortic valve stenosis, Retinopathy, Iris coloboma	ORPHA:2396
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Anemia, Developmental cataract	OMIM:127000
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, E...	ORPHA:394
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Unsteady gait, Pigmentary retinopathy, Opacificati...	OMIM:214100
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Splenomegaly, Congesti...	OMIM:615512
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia	OMIM:274000
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma	OMIM:206900
De Sanctis-Cacchione Syndrome	Ataxia, Keratitis, Axonal degeneration, Optic atrophy, Scissor gait, Telangiectasia, Choreoatheto...	OMIM:278800
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus	ORPHA:676
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Tbck-Related Intellectual Disability Syndrome	Inability to walk, Corneal opacity, Pulmonic stenosis	ORPHA:488632
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con...	OMIM:133540
Peroxisome Biogenesis Disorder 4B	Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ...	OMIM:614863
Joubert Syndrome 8	Optic disc pallor, Ataxia, Pigmentary retinopathy	OMIM:612291
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Cataract, Corneal opacity, Aortic regurgitation	ORPHA:1052
Fryns Syndrome	Aganglionic megacolon, Corneal opacity	ORPHA:2059
Mucopolysaccharidosis Type 6	Splenomegaly, Opacification of the corneal stroma	ORPHA:583
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Delayed peripheral myelination	ORPHA:364577
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy	OMIM:260920
Moebius Syndrome	Corneal opacity, Facial palsy	ORPHA:570
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Congenital Disorder Of Deglycosylation 1	Corneal opacity, Dysmetria, Athetosis, Corneal ulceration, Decreased sensory nerve conduction vel...	OMIM:615273
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Ataxia, Telangiectasia of the skin, Keratitis, Optic atrop...	ORPHA:910
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Galloway-Mowat Syndrome 1	Cataract, Ataxia, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma	OMIM:251300
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Raynaud phenomenon, Arterial oc...	OMIM:259900
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Oculoectodermal Syndrome	Transient ischemic attack, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the ...	OMIM:600268
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Anemi...	ORPHA:534
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Astigmatism, Rod-cone dystrophy	OMIM:619471
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Optic atrophy, Cardiomyopathy, Abnormal a...	ORPHA:3463
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Inability to walk, Splenomegaly, Optic atrophy, Hypertension	OMIM:617913
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Type II diabetes mellitus, Ataxia	OMIM:604121
Wilson Disease	Hemolytic anemia, Decreased nerve conduction velocity, Splenomegaly, Anemia, Kayser-Fleischer rin...	OMIM:277900
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Bradyki...	OMIM:234200
Kikuchi-Fujimoto Disease	Ataxia, Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Lymphocytosis, Vasculitis in t...	ORPHA:50918
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Optic atrophy, Ataxia	ORPHA:314404
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen...	ORPHA:1435
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L...	ORPHA:740
Wolf-Hirschhorn Syndrome	Ataxia, Sclerocornea, Optic atrophy, Megalocornea, Retinopathy, Iris coloboma	ORPHA:280
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea	OMIM:619869
Wolfram Syndrome 2	Diabetes mellitus, Optic atrophy, Optic neuropathy	OMIM:604928
Mucopolysaccharidosis, Type Iva	Waddling gait, Opacification of the corneal stroma	OMIM:253000
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Anemia, Developmental cataract	ORPHA:93325
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Glycosuria, Corneal crystals	ORPHA:411629
Williams Syndrome	Myocardial infarction, Dysmetria, Megalocornea, Ataxia, Sudden cardiac death, Blue irides, Aplasi...	ORPHA:904
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu...	ORPHA:91500
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Ataxia, Thrombocytopenia, Optic atrophy, Leukopen...	OMIM:305000
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv...	ORPHA:509
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly, Telangiectasia	OMIM:266270
Peters Plus Syndrome	Cataract, Corneal opacity, Optic atrophy, Microcornea, Pulmonic stenosis, Peters anomaly, Iris co...	ORPHA:709
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He...	OMIM:607330
Osteogenesis Imperfecta	Aortic regurgitation, Ataxia, Corneal opacity, Cerebral hemorrhage, Gait disturbance, Loss of amb...	ORPHA:666
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Splenomegaly, Congestive heart failure, Heart murmur, Hypertrophic cardiomy...	OMIM:252500
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Larsen Syndrome	Corneal opacity	OMIM:150250
Wiedemann-Rautenstrauch Syndrome	Cataract, Optic disc hypoplasia, Corneal opacity, Ataxia, Optic atrophy, Pigmentary retinopathy, ...	ORPHA:3455
Smith-Lemli-Opitz Syndrome	Cataract, Aganglionic megacolon, Sclerocornea, Optic atrophy, Iris coloboma	ORPHA:818
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r...	ORPHA:90348
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
7Q11.23 Microduplication Syndrome	Unsteady gait, Dysmetria, Abnormal optic disc morphology, Astigmatism, Aortic valve stenosis	ORPHA:96121
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphol...	ORPHA:508498
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Aganglionic megacolon, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis	ORPHA:2273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma	OMIM:615287
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology, Opacification of t...	OMIM:601559
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy	ORPHA:397715
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma	OMIM:268300
Fryns Syndrome	Polysplenia, Aganglionic megacolon, Opacification of the corneal stroma	OMIM:229850
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Hy...	OMIM:619991
Yunis-Varon Syndrome	Cataract, Sclerocornea, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary arteri...	ORPHA:3472
Digeorge Syndrome	Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, An...	OMIM:188400
Microphthalmia, Syndromic 6	Microcornea, Coloboma, Retinal dystrophy, Sclerocornea	OMIM:607932
Yunis-Varon Syndrome	Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension	OMIM:216340

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 Trim39

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 Trim39.

No publications found that use IMPC mice or data for Trim39.

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
Trim39^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Trim39^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Trim39^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Trim39 MGI:1890659

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Adult LacZ

Embryo LacZ

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Trim39 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data