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Gene: Kdm8 MGI:1924285

Gene Summary

Name:

lysine (K)-specific demethylase 8

Synonyms:

Jmjd5, 3110005O21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
mydriasis	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.67×10^-05
abnormal iris morphology	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.04×10^-05
impaired pupillary reflex	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.83×10^-05
abnormal coat/ hair morphology	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.79×10^-05
abnormal optic disk morphology	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	8.96×10^-05
abnormal retina vasculature morphology	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.11×10^-05
increased circulating potassium level	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.77×10^-07
preweaning lethality, complete penetrance	Kdm8^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal behavior	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.20×10^-05
fused cornea and lens	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.77×10^-05
abnormal lens morphology	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	4.07×10^-05
cataract	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.42×10^-05
increased body weight	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.57×10^-05
abnormal iris pigmentation	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.79×10^-05
corneal vascularization	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.11×10^-05
increased IgE level	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.10×10^-06
preweaning lethality, incomplete penetrance	Kdm8^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal retina blood vessel morphology	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.42×10^-05
iris synechia	Kdm8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.27×10^-05
embryonic lethality prior to tooth bud stage	Kdm8^{tm1b(EUCOMM)Wtsi}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Kdm8^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal response to tactile stimuli	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.53×10^-07
abnormal behavior	Kdm8^{tm1a(EUCOMM)Wtsi}	HET	Early adult	5.48×10^-07

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (4 of 4)
Brainstem	Wholemount images	heterozygote	100% (4 of 4)
Cartilage tissue	Wholemount images	heterozygote	100% (4 of 4)
Cerebellum	Wholemount images	heterozygote	100% (4 of 4)
Cerebral cortex	Wholemount images	heterozygote	100% (4 of 4)
Hippocampus	Wholemount images	heterozygote	100% (4 of 4)
Hypothalamus	Wholemount images	heterozygote	100% (4 of 4)
Kidney	Wholemount images	heterozygote	100% (4 of 4)
Olfactory lobe	Wholemount images	heterozygote	75% (3 of 4)
Peripheral nervous system	Wholemount images	heterozygote	100% (4 of 4)
Spinal cord	Wholemount images	heterozygote	100% (4 of 4)
Striatum	Wholemount images	heterozygote	100% (4 of 4)
Testis	Wholemount images	heterozygote	50% (2 of 4)
Trachea	Wholemount images	heterozygote	100% (4 of 4)
Adrenal gland	N/A	heterozygote	0.0% (0 of 4)
Aorta	N/A	heterozygote	0.0% (0 of 4)
Bone	N/A	heterozygote	0.0% (0 of 4)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	heterozygote	0.0% (0 of 4)
Gall bladder	N/A	heterozygote	0.0% (0 of 4)
Heart	N/A	heterozygote	0.0% (0 of 4)
Large intestine	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 4)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	0.0% (0 of 4)
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Oral epithelium	N/A	heterozygote	0.0% (0 of 4)
Ovary	N/A	heterozygote	0.0% (0 of 4)
Oviduct	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Peyer's patch	N/A	heterozygote	0.0% (0 of 4)
Pituitary gland	N/A	heterozygote	0.0% (0 of 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	0.0% (0 of 4)
Small intestine	N/A	heterozygote	0.0% (0 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach	N/A	heterozygote	0.0% (0 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	0.0% (0 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
Vascular system	N/A	heterozygote	0.0% (0 of 4)
White adipose tissue	N/A	heterozygote	0.0% (0 of 4)

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% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail	N/A	heterozygote	50% (1 of 2)

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.

X-ray

XRay Images Skull Lateral Orientation

15 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

29 Images

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X-ray

XRay Images Whole Body Lateral Orientation

29 Images

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Echo

M-Mode Images

68 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images

X-ray

XRay Images Forepaw

15 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

View images

OPT E9.5

Embryo reconstruction

7 Images

View images

X-ray

XRay Images Hind Leg and Hip

1 Images

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Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Kdm8 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 Kdm8 (0 diseases)
Human diseases predicted to be associated with Kdm8 (1286 diseases)

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

The table below shows human diseases predicted to be associated to Kdm8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract	OMIM:616722
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Miosis, Deep anterior chamber, Mosaic corneal dystrop...	OMIM:309300
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Cataract	OMIM:615995
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Juvenile cataract, Arrhythmia	OMIM:212500
Nathalie Syndrome	Arrhythmia, Cataract	ORPHA:2663
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Microphthalmia, Isolated, With Cataract 1	Cataract, Miosis	OMIM:156850
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb...	ORPHA:280921
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Spastic Paraparesis And Deafness	Tremor, Cataract	OMIM:312910
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Uveitis,...	OMIM:221900
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Trichomegaly	Cataract	OMIM:190330
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Spastic Ataxia 7, Autosomal Dominant	Optic atrophy, Congenital miosis	OMIM:108650
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Optic Atrophy 2	Tremor, Optic atrophy	OMIM:311050
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Chorioretinal coloboma	ORPHA:2732
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Motor axonal neuropathy, Mydriasis	ORPHA:247815
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir...	OMIM:618944
Galactosemia Iv	Cataract	OMIM:618881
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Intestinal Botulism	Mydriasis	ORPHA:178481
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis, Tremor	ORPHA:66633
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm...	OMIM:619165
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy...	ORPHA:2119
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn...	ORPHA:101082
Wound Botulism	Cardiac arrest, Mydriasis	ORPHA:178475
Galactosemia Ii	Cataract	OMIM:230200
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht...	OMIM:212550
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis,...	OMIM:278730
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d...	OMIM:204200
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Nathalie Syndrome	Abnormal EKG, Cataract	OMIM:255990
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Small for gestational age, Long eyebrows, Pigmentary retinopathy...	OMIM:275400
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circ...	ORPHA:98813
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Cataract	OMIM:614284
Immunodeficiency, Common Variable, 11	Failure to thrive, Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy	OMIM:616171
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas...	OMIM:617241
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Inhalational Botulism	Mydriasis	ORPHA:254504
Infant Botulism	Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis	ORPHA:178478
Botulism	Arrhythmia, Mydriasis	ORPHA:1267
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma	OMIM:615147
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
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
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Sensory axonal neuropathy, Cataract	ORPHA:329314
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Foodborne Botulism	Arrhythmia, Mydriasis	ORPHA:228371
Serotonin Syndrome	Tachycardia, Tremor, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Mydr...	ORPHA:43116
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis	OMIM:613834
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal...	OMIM:175780
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:177910
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis	ORPHA:98919
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis	OMIM:617388
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Microcoria, Congenital	Microcoria, Miosis, Hypoplasia of the iris dilator muscle	OMIM:156600
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Griscelli Syndrome Type 1	Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation	ORPHA:79476
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
2Q24 Microdeletion Syndrome	Coloboma, Cataract, Abnormality iris morphology	ORPHA:1617
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ...	ORPHA:225
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Increased circulating IgE level, Long eyelashes	OMIM:616069
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulatin...	OMIM:300400
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Hypertension	ORPHA:3156
Phenylketonuria	Maternal hyperphenylalaninemia, Cataract, Blue irides, Hyperphenylalaninemia, Generalized hypopig...	OMIM:261600
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Facial palsy, Mydriasis	OMIM:259720
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Hypertrophic cardiomyopathy, Cataract	ORPHA:3173
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Decreased serum iron	OMIM:212050
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Cataract, Iris hypopigmentation	ORPHA:67048
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Cataract 48	Cataract, Miosis	OMIM:618415
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411515
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Obesity	OMIM:615990
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari...	OMIM:158310
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Leber Hereditary Optic Neuropathy	Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascul...	ORPHA:104
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor	OMIM:609153
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor	OMIM:614307
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Cataract, Limb tremor	OMIM:616647
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cataract 47	Microcornea, Cataract	OMIM:612018
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy	OMIM:614706
Xeroderma Pigmentosum, Complementation Group G	Tremor, Cataract	OMIM:278780
Congenital Hydrocephalus	Optic atrophy, Macular hypoplasia, Iris coloboma	ORPHA:2185
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Failure to thrive, Increased circulating IgE level, Lack of T ce...	ORPHA:277
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia	ORPHA:2151
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Nail dystrophy	ORPHA:89843
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Abnormal autonomic nervo...	ORPHA:2131
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:1466
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract	ORPHA:250984
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Corneal scarring, Pigmentary retinopat...	ORPHA:404454
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Mydriasis, Anisocoria, Abnormality of th...	ORPHA:79138
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Arachnoid Cyst	Cranial nerve compression, Facial palsy, Subarachnoid hemorrhage, Mydriasis	ORPHA:2356
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Flynn-Aird Syndrome	Rod-cone dystrophy, Cataract	OMIM:136300
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Increased circulating IgA level, Increased circulating IgE level, Increased circulating...	ORPHA:169154
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Cataract	ORPHA:2528
Kimura Disease	Increased circulating IgE level	ORPHA:482
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE...	OMIM:619824
Pituitary Apoplexy	Hypertension, Hypotension, Mydriasis	ORPHA:95613
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Tremor, Hypertension, Abnormality of macu...	ORPHA:97229
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Aniridia 3	Aniridia, Cataract	OMIM:617142
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Increased circulating IgE level	OMIM:618523
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Low posterior hairline, Failure to thrive, Generalized hirsutism, Hi...	ORPHA:1895
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Spastic Paraplegia 5A, Autosomal Recessive	Postural tremor, Cataract, Optic atrophy	OMIM:270800
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme...	ORPHA:381
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Scorpion Envenomation	Bundle branch block, Tachycardia, Miosis, Cardiac conduction abnormality, Tremor, Congestive hear...	ORPHA:466677
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Increased circulat...	ORPHA:634
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Supraventricular arrhythmia	ORPHA:320360
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Pellagra-Like Syndrome	Cataract	OMIM:260650
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Netherton Syndrome	Decreased circulating IgG level, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyeb...	OMIM:256500
Congenital Varicella Syndrome	Cataract	ORPHA:291
Peeling Skin Syndrome 1	Brittle hair, Increased circulating IgE level, Nail dystrophy	OMIM:270300
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Cataract, Choreoathetosis, Dystonia	OMIM:614932
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Astigmatism	OMIM:619328
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Large for gestational age	ORPHA:2432
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis	ORPHA:2969
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Cataract, Optic atrophy, Retinal dysplasia	ORPHA:272
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Generalized dystonia, Optic di...	OMIM:619389
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy...	ORPHA:1345
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
X-Linked Intellectual Disability, Najm Type	Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, Abnormal vitreous humor morphology	OMIM:604841
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea...	OMIM:618175
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Triple A Syndrome	Optic atrophy, Iris coloboma, Motor axonal neuropathy	ORPHA:869
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Infantile Refsum Disease	Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy	ORPHA:772
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism	OMIM:612285
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides, Obesity	OMIM:614613
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Dystonia, H...	OMIM:617183
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Elevated pulmonary artery pressure, Mydriasis	OMIM:619351
Alexander Disease	Microcoria	OMIM:203450
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy, Dystonia	OMIM:271930
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O...	OMIM:609033
Gyrate Atrophy Of Choroid And Retina	Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy	OMIM:258870
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Athetosis, Failure to thrive in infancy, Iris hypopigmentation	ORPHA:834
Stickler Syndrome Type 1	Retinal detachment, Cataract, Abnormal vitreous humor morphology	ORPHA:90653
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Early balding, Blue irides, Hand tremor, Truncal obesity, Cafe-au-lait spot	ORPHA:3041
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Refsum Disease, Classic	Cataract, Miosis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retin...	OMIM:266500
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy	ORPHA:44
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Kid Syndrome	Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio...	ORPHA:477
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Obesity	ORPHA:3409
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Prune1-Related Neurological Syndrome	Retinopathy, Hypertrophic cardiomyopathy, Cataract, Optic atrophy	ORPHA:544469
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:300310
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Nance-Horan Syndrome	Microcornea, Retinal detachment, Cataract	ORPHA:627
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion...	ORPHA:1764
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Optic atrophy	OMIM:617481
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Synophrys, Heterochromia iridis	ORPHA:1390
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Achondrogenesis Type 2	Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract	ORPHA:93296
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Obesity	OMIM:300803
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Spastic Paraplegia 75, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:616680
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:610600
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Increased circulating IgE level	OMIM:614328
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Impaired collagen-in...	OMIM:619172
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop...	ORPHA:79477
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Facial Spasm	Anisocoria	OMIM:134300
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:431329
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Cataract	OMIM:615352
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract	OMIM:613763
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Cataract, Decreased number of large peripheral myelina...	OMIM:162400
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction	OMIM:124950
Optic Atrophy 6	Optic atrophy	OMIM:258500
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Rod-cone dystrophy, Cataract	OMIM:614879
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Tonne-Kalscheuer Syndrome	Tremor, Blue irides, Fine hair	OMIM:300978
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape, Slow pup...	ORPHA:45358
Warburg Micro Syndrome 1	Microcornea, Optic atrophy, Developmental cataract	OMIM:600118
4H Leukodystrophy	Tremor, Cataract, Optic atrophy, Dystonia	ORPHA:289494
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels, Intention tremor	ORPHA:284289
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation, Hyponatremia, Hyperkalemia	OMIM:240200
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy	ORPHA:324737
Developmental And Epileptic Encephalopathy 93	Optic atrophy, Iris coloboma	OMIM:618012
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma	OMIM:610125
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul...	OMIM:308230
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Hypoalbuminemia, Hypernatremia, Sparse hair, Failure to thrive	OMIM:615508
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Abnormality of peripheral nerve conduction, Motor axonal neuropathy, Inten...	ORPHA:48431
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Astigmatism, Titubation	ORPHA:459056
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract	OMIM:619851
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas...	OMIM:606367
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, H...	ORPHA:496790
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Weill-Marchesani Syndrome	Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis	ORPHA:3449
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Intention...	ORPHA:98890
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye...	OMIM:311070
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop...	OMIM:619260
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Cln3 Disease	Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Bradyc...	ORPHA:228346
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat...	OMIM:614077
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:177735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Coloboma	OMIM:613153
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:264350
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Cataract, Aganglionic megacolon, Retinal arteriolar tortuosity, Opti...	ORPHA:567
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Usher Syndrome, Type 1M	Drusen, Optic disc pallor	OMIM:618632
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Ir...	ORPHA:85194
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation	ORPHA:411511
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Retinitis Pigmentosa 78	Optic disc pallor, Cystoid macular edema	OMIM:617433
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Obesity And Hypopigmentation	Red hair, Overgrowth, Obesity	OMIM:620195
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ...	ORPHA:3205
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A...	ORPHA:1791
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Angelman Syndrome	Blue irides, Obesity, Limb tremor, Fair hair, Hypopigmentation of the skin	OMIM:105830
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Chromosome Xq21 Deletion Syndrome	Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration	OMIM:303110
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Achromatopsia 3	Cataract	OMIM:262300
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Tremor, Obesity, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Decreased body weight, Generalized hypopigm...	OMIM:617306
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials	OMIM:617523
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Peroxisome Biogenesis Disorder 8B	Cataract, Retinal dystrophy, Optic atrophy, Limb tremor, Peripheral demyelination	OMIM:614877
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cardiomyopathy, Cataract	OMIM:301075
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Impaired ADP-induced platelet aggregation, Ocular albinism, Albinism	OMIM:614074
Autosomal Recessive Spastic Paraplegia Type 26	Cataract, Dystonia	ORPHA:101006
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract	ORPHA:3085
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Intention tremor	OMIM:620221
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Failure to thrive, Increased circulating IgE level	OMIM:304790
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract	ORPHA:1856
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Decreased circulating total IgM, Decreased circulating IgE, Decreas...	OMIM:619510
Baralle-Macken Syndrome	Cataract, Obesity, Dystonia, Cafe-au-lait spot, Hirsutism	OMIM:619255
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Wolfram Syndrome 1	Cataract, Tremor, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy	OMIM:222300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity	ORPHA:309288
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Spinocerebellar Ataxia 7	Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Isolated Atp Synthase Deficiency	Cataract, Dilated cardiomyopathy, Optic atrophy, Arrhythmia, Dystonia, Hypertrophic cardiomyopath...	ORPHA:254913
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Cataract, Optic atrophy	OMIM:612379
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Torticollis, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy	OMIM:618547
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Truncal titubation, Axonal degeneration, Pigme...	ORPHA:88628
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per...	ORPHA:585
Leber Congenital Amaurosis 14	Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy	OMIM:613341
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Optic atrophy, Hemidystonia	OMIM:619052
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Failure to thrive, Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Birk-Landau-Perez Syndrome	Dystonia, Failure to thrive in infancy, Hyperkalemia, Choreoathetosis, Long eyelashes, Increased ...	OMIM:617595
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:612989
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:614736
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca...	ORPHA:93400
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni...	ORPHA:171876
Stiff Skin Syndrome	Cataract	OMIM:184900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Noonan Syndrome 13	Highly arched eyebrow, Blue irides, Low posterior hairline, Multiple lentigines, Cafe-au-lait spo...	OMIM:619087
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Distal Deletion 13Q	Optic atrophy, Iris coloboma	ORPHA:1590
Noonan Syndrome 4	Curly hair, Large for gestational age, Sparse eyebrow, Blue irides, High anterior hairline	OMIM:610733
Immunodeficiency 23	Increased circulating IgG level, Failure to thrive, Increased circulating IgE level, Increased ci...	OMIM:615816
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corneal stroma, Elevated...	OMIM:214110
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cardiomyopathy, Optic atrophy, Opto-chiasmatic atrophy, Cataract	OMIM:620089
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cardiomyopathy, Abnormal macular mo...	ORPHA:1493
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Failure to thrive in infancy, Cachexia, Increased circulating IgE level, Abnormal blood...	ORPHA:37042
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Crouzon Syndrome	Conjunctivitis, Optic atrophy, Iris coloboma	ORPHA:207
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Aspergillosis	Keratitis, Increased circulating IgE level	ORPHA:1163
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa...	ORPHA:233
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Increased circulating IgE lev...	ORPHA:330015
Leber Optic Atrophy And Dystonia	Athetosis, Optic atrophy, Leber optic atrophy, Dystonia	OMIM:500001
Trichinellosis	Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnormal optic ne...	ORPHA:863
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Dystonia-Deafness Syndrome 1	Leg dystonia, Cataract, Oculogyric crisis, Generalized dystonia	OMIM:607371
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Immunodeficiency 64 With Lymphoproliferation	Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Increased ci...	OMIM:618534
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy	ORPHA:370997
Warburg Micro Syndrome 3	Cataract, Miosis, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber	OMIM:614222
Flynn-Aird Syndrome	Rod-cone dystrophy, Cataract	ORPHA:2047
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Tremor, Silver-gray hair, Oc...	OMIM:214500
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Plague	Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis	ORPHA:707
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Angelman Syndrome	Keratoconus, Tremor, Obesity, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigm...	ORPHA:72
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Tremor, Cherry red spot of the ma...	ORPHA:812
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia, Cataract	OMIM:606069
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Miosis, Heart block, Cardiomyopathy, Retinopathy	ORPHA:773
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Optic Atrophy 8	Mitral regurgitation, Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory...	OMIM:616648
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Cataract, Hematochezia	ORPHA:79095
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Increased circulating IgE level, Dystrophic fingernails	ORPHA:2314
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Athetosis, Choroideremia, I...	ORPHA:2719
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Failure to thrive, Increased circulating IgE level, Decreased ...	OMIM:102700
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria, Tonic pupil, Slow pup...	ORPHA:90658
Zellweger Syndrome	Failure to thrive, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots...	ORPHA:912
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Juvenile Sialidosis Type 2	Cherry red spot of the macula, Cataract, Optic atrophy, Corneal opacity	ORPHA:93399
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity	ORPHA:71526
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis...	OMIM:186580
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Cataract, Optic atrophy, Morning glory anomaly	ORPHA:98673
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy	OMIM:610651
Meckel Syndrome, Type 2	Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly	OMIM:603194
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Full Schwannomatosis	Schwannoma, Cataract, Peripheral schwannoma, Bilateral vestibular schwannoma	ORPHA:93921
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Cataract, Retinal degeneration	OMIM:615249
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertension	ORPHA:52
Monilethrix	Cataract	ORPHA:573
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation	OMIM:611134
Hepatic Veno-Occlusive Disease	Increased body weight, Increased total bilirubin	ORPHA:890
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma	ORPHA:494344
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:443811
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Congenital Disorder Of Glycosylation, Type Id	Optic atrophy, Iris coloboma	OMIM:601110
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Weight ...	ORPHA:79430
Adams-Oliver Syndrome 2	Optic atrophy, Developmental cataract	OMIM:614219
Warburg Micro Syndrome 2	Microcornea, Cataract, Optic atrophy, Developmental cataract	OMIM:614225
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Cataract, Reduced systolic function	OMIM:618805
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Astigmatism, Failure to thrive	ORPHA:97362
Usher Syndrome Type 2	Cataract, Iris hypopigmentation	ORPHA:231178
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Microcornea, Optic atrophy, Developmental cataract	OMIM:615663
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro...	ORPHA:1908
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglyceridemia...	ORPHA:167
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Trisomy 13	Cataract, Abnormal retinal vascular morphology, Optic atrophy, Aplasia/Hypoplasia of the iris, Ir...	ORPHA:3378
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Opisthotonus, Decreased ci...	ORPHA:508533
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Obesity	OMIM:603233
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microcornea, Iris coloboma	ORPHA:2712
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Marinesco-Sjögren Syndrome	Cataract, Optic atrophy	ORPHA:559
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Tremor, Developmental glaucoma, Optic ...	ORPHA:99956
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Synophrys, Cafe-au-lait spot, Increased body weight, Hand tremor	ORPHA:589905
Myotonic Dystrophy 1	Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricular block, Facial diplegia	OMIM:160900
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia, Hyperpig...	OMIM:175500
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Small for gestational age, Brushfield spots, Conjugated hyperbilirubinemia, Elevated ci...	OMIM:614866
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Fail...	OMIM:615758
Congenital Tufting Enteropathy	Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract	ORPHA:92050
Familial Glucocorticoid Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Weight loss, Failure to thrive, Tall s...	ORPHA:361
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Weight loss	OMIM:613239
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Decreased circulating antibody level, Nai...	ORPHA:293978
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Abnormal platelet aggregation, Ocular albinism	OMIM:614171
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ...	ORPHA:1215
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Optic...	ORPHA:49827
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,...	OMIM:618213
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma	ORPHA:2510
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Oculocerebrofacial Syndrome, Kaufman Type	Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroideremia	ORPHA:2707
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent co...	OMIM:308205
Mu-Heavy Chain Disease	Increased circulating antibody level, Weight loss	ORPHA:100024
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Hyp...	ORPHA:79102
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati...	ORPHA:86816
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Increased circulating antibody level	OMIM:615285
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Alport Syndrome 2, Autosomal Recessive	Hypertension, Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Prader-Willi Syndrome	Hypopigmentation of hair, Failure to thrive in infancy, Obesity, Abdominal obesity, Frontal upswe...	OMIM:176270
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Hirsutism, Increased circulating renin level, Failure to thrive, Hype...	ORPHA:90791
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Obesity	OMIM:245800
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri...	ORPHA:280234
Jaberi-Elahi Syndrome	Cataract, Tremor, Optic atrophy, Choreoathetosis, Dystonia	OMIM:617988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell acti...	OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill...	OMIM:308240
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Optic atrophy	OMIM:614651
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Astigmatism, Optic atrophy, Dystonia	OMIM:616875
Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:427
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma	OMIM:222448
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Weight loss, Increased circulati...	ORPHA:95409
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Familial Isolated Hypoparathyroidism	Arrhythmia, Cataract	ORPHA:2238
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract, Optic nerve hypoplasia	OMIM:222765
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Koolen-De Vries Syndrome	Failure to thrive, Cataract, Small for gestational age, Abnormality of hair texture, Fair hair, I...	OMIM:610443
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Usher Syndrome	Abnormality of retinal pigmentation, Cataract, Vestibular areflexia, Abnormal cardiovascular syst...	ORPHA:886
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Failure to thrive, Vitiligo	ORPHA:199299
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia, Increased body weight	ORPHA:94086
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Abnormality of central somat...	OMIM:213700
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Peroxisome Biogenesis Disorder 1A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corneal stroma, Elevated...	OMIM:214100
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Telangiectasia of the skin, Leukocoria	ORPHA:1556
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Cataract, Telangiectasia of the skin, Myocardial infarction, Ischemi...	ORPHA:679
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Generalized dystonia	ORPHA:79107
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Cardiomyopathy, Arrhythmia, Retinal degeneration	OMIM:249270
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Optic atrophy, Head tremor	ORPHA:314404
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:568
Muckle-Wells Syndrome	Conjunctivitis, Vasculitis, Optic atrophy, Uveitis	ORPHA:575
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:98754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Cataract, Retinal dystrophy	OMIM:616538
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level	OMIM:218030
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ...	OMIM:609541
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, E...	ORPHA:394
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hype...	ORPHA:94093
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Keratoconjunctivitis sicca, Optic atrophy	OMIM:234050
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level, Hypoalbuminemia, Weight loss	OMIM:209950
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:98793
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:618048
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Hyperphosphatemia, Blue irides, Melanocytic nevus	OMIM:101800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr...	OMIM:236670
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:177904
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Optic atrophy, Right bundle branch block, Mitral regurgitation, Astigmatism	OMIM:619576
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Small for gestational age, Obesity, Failure to thrive, Hypopigmentation...	ORPHA:177901
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Increased body weight	ORPHA:276608
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, High anterior hai...	ORPHA:2614
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Abnormal left ventricular function, Conjunctivitis, Laryngeal dy...	ORPHA:36913
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Obesity, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation...	ORPHA:177907
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Cadds	Cataract, Dystonia	ORPHA:369942
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Werner Syndrome	Cataract, Retinal degeneration	OMIM:277700
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch...	OMIM:616267
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Astigmatism, Optic atrophy	ORPHA:480898
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Optic atrophy	ORPHA:543470
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449395
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Hermansky-Pudlak Syndrome 7	Ocular albinism, Impaired platelet aggregation, Albinism	OMIM:614076
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Increased body weight, Spotty hypopigmentation, Low posterior hai...	OMIM:300860
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Increased circulating IgA level, Developmental cataract, Tiger tail bandi...	OMIM:616395
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Failure to thrive, Hyperkalemia, Hyperpigmentation of the skin	ORPHA:90790
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hirsutism, Action tremor	ORPHA:77296
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea...	ORPHA:169160
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Low posterior hairline, Microcornea, Failure to thrive, Heterochromia irid...	ORPHA:2995
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Optic atrophy	OMIM:201180
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Astigmatism	OMIM:619471
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Mirage Syndrome	Hyponatremia, Hyperkalemia, Decreased body weight	OMIM:617053
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Developmental cataract	OMIM:127000
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness	ORPHA:293967
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased circulating free fatty acid level, Large for gestational age	ORPHA:293964
Multiple System Atrophy 1, Susceptibility To	Tremor, Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:1327
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea	OMIM:249310
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Obesity	OMIM:600151
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia	OMIM:608885
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Failure to thrive, Decreased circulating antibody level	ORPHA:397596
Addison Disease	Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Weight loss, Increased circulati...	ORPHA:85138
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive	OMIM:602722
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Atrioventricular block, Hypertension, Pterygium, Iris coloboma	ORPHA:371428
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Mevalonic Aciduria	Optic disc pallor, Nuclear cataract, Cataract, Attenuation of retinal blood vessels	OMIM:610377
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia	OMIM:266270
Oculodentodigital Dysplasia	Cataract, Optic atrophy, Abnormality iris morphology, Microcornea, Arrhythmia	ORPHA:2710
Crouzon Syndrome	Keratitis, Conjunctivitis, Optic atrophy	OMIM:123500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H...	OMIM:309801
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Conjunctivitis, D...	OMIM:300755
Hyperoxaluria, Primary, Type I	Choroidal neovascularization, Optic neuropathy, Retinal crystals, Raynaud phenomenon, Arterial oc...	OMIM:259900
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Cataract, Failure to thrive, Elevated ...	OMIM:242840
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,...	OMIM:308300
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Impaired ADP-induced platelet aggregation, Ocular albinism, Albinism	OMIM:614075
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Tremor, Optic atrophy, Uveitis, Pigmentary retinop...	ORPHA:90321
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmenta...	OMIM:240300
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Xfe Progeroid Syndrome	Hypertension, Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels	OMIM:610965
Leishmaniasis	Increased circulating antibody level, Hypoalbuminemia, Weight loss	ORPHA:507
Acro-Renal-Ocular Syndrome	Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Colobom...	ORPHA:959
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Liddle Syndrome	Hypokalemia	ORPHA:526
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Subacute Inflammatory Demyelinating Polyneuropathy	Tremor, Increased circulating IgG level, Choreoathetosis	ORPHA:206594
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
O'Sullivan-Mcleod Syndrome	Tremor, Increased circulating antibody level	ORPHA:99965
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Increased body ...	ORPHA:263455
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Head tremor	ORPHA:95433
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Triploidy	Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Superficial Siderosis	Subarachnoid hemorrhage, Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of t...	ORPHA:247245
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, We...	ORPHA:29073
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne...	ORPHA:636
Blau Syndrome	Pericarditis, Cataract, Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neu...	ORPHA:90340
Cystinosis	Hypokalemia, Failure to thrive, Corneal opacity, Hypophosphatemia	ORPHA:213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Intention tremor	ORPHA:504476
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Cerebrocostomandibular Syndrome	Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ...	ORPHA:1393
Macrocephaly/Autism Syndrome	Large for gestational age, Obesity, Decreased circulating antibody level, Coarse hair, Overgrowth	OMIM:605309
Halperin-Birk Syndrome	Optic atrophy, Developmental cataract	OMIM:618651
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Autosomal Recessive Spondylocostal Dysostosis	Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation	ORPHA:2311
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Igg4-Related Ophthalmic Disease	Keratitis, Elevated circulating C-reactive protein concentration, Increased circulating IgE level...	ORPHA:449563
Neuroocular Syndrome	Cataract, Brittle hair, Highly arched eyebrow, Brushfield spots, Synophrys, Lens coloboma, Blue i...	OMIM:619539
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Abnormal circulating cholesterol conce...	ORPHA:168558
Abcd Syndrome	Large for gestational age, White eyelashes, White eyebrow, Albinism	OMIM:600501
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Blepharospasm, Athetosis, Pigmentary retinopathy, Dystonia, Cra...	OMIM:617282
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Abnormal circulating cholesterol conce...	ORPHA:289548
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Su...	ORPHA:90324
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heteroch...	OMIM:609136
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Increased body weight	OMIM:182290
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Failure to thrive	OMIM:618495
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Supernumerary nipple, Tall stature	ORPHA:373
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Uveitis...	ORPHA:247353
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Hypercholesterolemia, Fa...	ORPHA:275761
Pituitary Adenoma 4, Acth-Secreting	Abdominal obesity, Hypokalemia, Obesity, Hirsutism	OMIM:219090
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Failure to thrive	OMIM:611590
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Scalp-Ear-Nipple Syndrome	Cataract, Congestive heart failure, Developmental cataract, Anisocoria, Hypertension, Supraventri...	OMIM:181270
Caffey Disease	Increased circulating antibody level	ORPHA:1310
De Sanctis-Cacchione Syndrome	Keratitis, Axonal degeneration, Optic atrophy, Telangiectasia, Choreoathetosis, Conjunctivitis	OMIM:278800
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive	OMIM:214700
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:615934
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:90003
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Failure to thrive, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymp...	ORPHA:276
Hermansky-Pudlak Syndrome 10	Dystonia, Ocular albinism, Albinism	OMIM:617050
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormalit...	ORPHA:91387
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Prolidase Deficiency	Failure to thrive, Increased circulating antibody level, Facial hirsutism, Low posterior hairline	OMIM:170100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Alopecia, Abnormality of body weight, Decreased circula...	ORPHA:2298
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity, Hyperbilirubinemia	OMIM:609734
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Developmental cataract	ORPHA:93325
Gapo Syndrome	Keratoconus, Facial palsy, Retinal arteriolar tortuosity, Optic atrophy, Shallow anterior chamber...	OMIM:230740
Tularemia	Conjunctivitis, Conjunctival hyperemia, Increased circulating antibody level	ORPHA:3392
East Syndrome	Hypokalemia, Increased circulating renin level, Action tremor, Hypomagnesemia	ORPHA:199343
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti...	ORPHA:534
Fountain Syndrome	Spina bifida occulta, Short stature, Spina bifida	ORPHA:3219
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Reduced natural killer cell activity, Impaired ADP-indu...	OMIM:608233
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Failure to thrive in infancy, Elevated circulating C-reactive pr...	OMIM:617099
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Obesity	OMIM:605231
Cockayne Syndrome	Miosis, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Intention tremor, Ret...	ORPHA:191
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma	OMIM:206900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension, Cataract, Optic atrophy	OMIM:617913
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Pulmonic stenosis	OMIM:618223
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea	OMIM:619869
Jacobsen Syndrome	Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Iris coloboma	OMIM:147791
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Optic disc pallor, Optic atrophy, Optic neuropathy	OMIM:618249
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Growth delay	OMIM:614424
Primary Hyperoxaluria	Optic disc pallor, Choroidal neovascularization, Heart block, Raynaud phenomenon, Arterial occlus...	ORPHA:416
Adrenocortical Carcinoma	Hypertrichosis, Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-...	ORPHA:2839
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Low posterior hairline, Increased circulating IgM level, Chorio...	OMIM:617303
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Failure to thrive, Decreased circulating IgA level	OMIM:242860
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Optic atrophy, Tela...	ORPHA:910
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Hyperpigmentation of the skin	ORPHA:48377
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Cockayne Syndrome B	Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ...	OMIM:133540
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Hyperkalemia, Elevated circulating creatinine ...	ORPHA:340
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abnormal cornea morph...	ORPHA:411629
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy...	ORPHA:564
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract, Optic atrophy	OMIM:607812
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Increased circulating interleukin 6 concentration, Hyperkalemia, Hypocalcemia, Abno...	ORPHA:544482
Mercury Poisoning	Tremor, Hypokalemia, Dystonia	ORPHA:330021
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia, Obesity	OMIM:194072
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Short stature	ORPHA:2031
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased body weight, Hirsutism	OMIM:615830
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Heart murmur	OMIM:618653
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Mitral regurgitation, Megalo...	ORPHA:284979
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Myocard...	ORPHA:892
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Frontal balding, Hyperkalemia, Hirsutism, Weight loss, Hypochloremia, Failure to th...	ORPHA:90794
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Proboscis Lateralis	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina...	ORPHA:141099
Monosomy 13Q14	Retinoblastoma, Cataract, Iris coloboma	ORPHA:1587
Wilson Disease	Kayser-Fleischer ring, Failure to thrive, Increased body weight, Weight loss	ORPHA:905
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Uveitis, Subc...	ORPHA:509
Cockayne Syndrome A	Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal auditory evoked potentials, ...	OMIM:216400
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Williams Syndrome	Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Failure to thri...	ORPHA:904
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level, Increased total bilirubin,...	ORPHA:2137
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Insulinoma	Tremor, Increased body weight	ORPHA:97279
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Pulmonic ...	OMIM:235730
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:613090
Aicardi Syndrome	Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy	OMIM:304050
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphol...	ORPHA:508498
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Japanese Encephalitis	Hyponatremia, Tremor, Opisthotonus, Choreoathetosis, Increased circulating IgM level, Pill-rollin...	ORPHA:79139
Trisomy 8P	Astigmatism, Heterochromia iridis, Low posterior hairline	ORPHA:264450
Viss Syndrome	Sparse scalp hair, Alopecia, Increased circulating IgE level, Increased circulating IgG level, Fa...	OMIM:619472
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Failure to thrive, Increased circulating antibody level, Hypertriglyceridemia	OMIM:617591
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Apparent Mineralocorticoid Excess	Hypokalemia, Failure to thrive, Decreased circulating renin level	ORPHA:320
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity	ORPHA:293987
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Pneumocystosis	Increased circulating antibody level, Weight loss	ORPHA:723
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Poems Syndrome	Leukonychia, Weight loss, Increased circulating antibody level, Hyperpigmentation of the skin, Hy...	ORPHA:2905
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ...	OMIM:219800
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Athetosis, Hypokalemia, Decreased circulating renin level	OMIM:615474
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Astigmatism, Cataract	OMIM:619268
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Frontofacionasal Dysplasia	Microcornea, Cataract, Iris coloboma	OMIM:229400
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia	ORPHA:369929
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Failure to thrive in infancy, Hypercalcemia, Blue irides, Obesity,...	OMIM:194050
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Sotos Syndrome	Sparse eyebrow, Increased body weight, Overgrowth, High anterior hairline, Tall stature	OMIM:117550
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Lateral Meningocele Syndrome	Umbilical hernia, Hydrocephalus, Meningocele, Short stature	OMIM:130720
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper...	OMIM:256040
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hyperlipidemia, Increased body weight, Abdominal obesity, Hirsutism	ORPHA:189427
Osteootohepatoenteric Syndrome	Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Weight loss	OMIM:619377
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re...	ORPHA:3380
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ...	ORPHA:186
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara...	ORPHA:744
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal choroid morphology	OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Intention tremor, Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Increased circulating IgM level, Conjunctivitis,...	ORPHA:505248
Cystic Echinococcosis	Increased circulating antibody level, Hyperbilirubinemia, Weight loss	ORPHA:400
Down Syndrome	Brushfield spots	OMIM:190685
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hyperpigmentation of the skin, Hypokalemia, Hirsutism, Decreased circulating renin level	ORPHA:90795
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele	ORPHA:2789
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Aganglionic megacolon, Abnormal pupil morphology, Optic atrophy, Hyphema,...	ORPHA:261552
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Pearson Syndrome	Cataract, Small for gestational age, Hypophosphatemia, Corneal stromal edema, Pigmentary retinopa...	ORPHA:699
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Increased body weight, Chorioretinal hypopigmentation, Abdominal obesit...	ORPHA:398069
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Encephalitis Lethargica	Tremor, Increased circulating antibody level	ORPHA:83600
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology, Astigmatism, Aortic valve stenosis	ORPHA:96121
Al Amyloidosis	Increased circulating NT-proBNP concentration, Increased circulating antibody level, Hypoalbumine...	ORPHA:85443
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Rabson-Mendenhall Syndrome	Thick hair, Low anterior hairline, Hypertrichosis, Premature graying of hair, Hypokalemia, Hirsut...	ORPHA:769
Mosaic Trisomy 9	Intrauterine growth retardation, Spina bifida	ORPHA:99776
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh...	ORPHA:397715
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ...	ORPHA:264580
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ...	ORPHA:89938
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Lassa Fever	Increased circulating IgM level, Conjunctivitis	ORPHA:99824
Lathosterolosis	Intrauterine growth retardation, Meningocele	ORPHA:46059
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Absent pubic hair, Hypokalemia, Absent axillary hair, Failure to thrive, Decreased circulating re...	ORPHA:90793
Selective Igm Deficiency	Keratitis, Paraproteinemia, Decreased circulating total IgM, Decreased specific antibody response...	ORPHA:331235
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypercalcemia, Hyp...	OMIM:601678
Aapoaiv Amyloidosis	Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration	ORPHA:439232
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Elevated circulating creatine ...	ORPHA:79240
Scleromyxedema	Paraproteinemia, Elevated circulating creatine kinase concentration	ORPHA:167635
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Gitelman Syndrome	Hypokalemia, Failure to thrive, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Phocomelia, Schinzel Type	Intrauterine growth retardation, Disproportionate short stature, Meningocele	ORPHA:2879
Pagod Syndrome	Encephalocele, Meningocele, Short stature, Spina bifida	ORPHA:991
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Postinfectious Vasculitis	Abnormal circulating protein concentration, Elevated circulating C-reactive protein concentration...	ORPHA:48435
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Weight loss, Hypophosphatemia, Hypokalemia, Decreased circulating c...	ORPHA:3337
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Hypochloremia, Hyp...	OMIM:241200
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:602522
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Tremor, Increased circulating IgG level, I...	ORPHA:297
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma, Intracranial hemorrhage	OMIM:613406
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Cataract, Ocular albinism, Obesity, Horizontal eyebrow, Failure to t...	ORPHA:1606
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Small for gestational age, Decreased circulating renin level	OMIM:201750
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Hydrocephalus, Anencephaly	OMIM:616546
Hallermann-Streiff Syndrome	Proportionate short stature, Spina bifida	OMIM:234100
Fibular Hemimelia	Spina bifida	ORPHA:93323
Focal Dermal Hypoplasia	Umbilical hernia, Spina bifida	ORPHA:2092
Neurooculorenal Syndrome	Iris atrophy	OMIM:620305
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Iridocyclitis, Uveitis, Weight loss, Chorioretinitis, Increased...	OMIM:181000
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Dystonia, Increased circulating antibody level, Wei...	OMIM:615846
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Q Fever	Cryoglobulinemia, Increased circulating antibody level, Weight loss	ORPHA:781
Brucellosis	Anterior uveitis, Small for gestational age, Elevated circulating C-reactive protein concentratio...	ORPHA:1304
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level, Uveitis	ORPHA:319251
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Bicarbonaturia, Hypokalemia, Failure to thrive	ORPHA:47159
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Jacobsen Syndrome	Growth delay, Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:2308
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Hyperbilirubinemia	ORPHA:562639
Neu-Laxova Syndrome 1	Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydranencephaly, ...	OMIM:256520
Vascular Ehlers-Danlos Syndrome	Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil morphology, Re...	ORPHA:286
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Chorioretinitis	ORPHA:1560
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr...	OMIM:619573
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased circula...	ORPHA:79078
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Hypokalemia, Tremor, Weight loss	ORPHA:91347
Primary Sjögren Syndrome	Decreased circulating antibody level, Keratoconjunctivitis sicca, Increased circulating antibody ...	ORPHA:289390
Alveolar Echinococcosis	Increased circulating antibody level, Weight loss	ORPHA:284
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level	OMIM:202010
Orofaciodigital Syndrome Vi	Occipital meningocele, Short stature	OMIM:277170
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Hypokalemia, Hirsutism	ORPHA:786
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Umbilical hernia, Intrauterine growth r...	ORPHA:84
Gaucher Disease	Corneal opacity, Elevated circulating C-reactive protein concentration, Tremor, Abnormality of sk...	ORPHA:355
Leprechaunism	Hypokalemia, Increased circulating renin level, Decreased body weight, Facial hypertrichosis, Fai...	ORPHA:508
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure to thrive	ORPHA:358
Cushing Disease	Sparse scalp hair, Hyperpigmentation of the skin, Increased body weight, Truncal obesity, Abdomin...	ORPHA:96253
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Campomelic Dysplasia	Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short stature, Neonat...	OMIM:114290
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent urachus, Intrauterine...	OMIM:192350
Vipoma	Hypokalemia, Hypercalcemia, Weight loss	ORPHA:97282
Distal Renal Tubular Acidosis	Hypokalemia, Failure to thrive	ORPHA:18
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Hydrocephalus, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Hydrocephalus, Spina bifida	ORPHA:363958
Primary Sclerosing Cholangitis	Weight loss, Hypoalbuminemia, Uveitis, Polyclonal elevation of IgM	ORPHA:171
Thrombocytopenia-Absent Radius Syndrome	Short stature, Spina bifida	OMIM:274000
Nelson Syndrome	Hypokalemia, Generalized hyperpigmentation	ORPHA:199244
Rubinstein-Taybi Syndrome 1	Short stature, Spina bifida, Postnatal growth retardation, Growth delay, Spina bifida occulta	OMIM:180849
Arima Syndrome	Growth delay, Occipital meningocele	OMIM:243910
Hellp Syndrome	Increased body weight	ORPHA:244242
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h...	OMIM:304120
Marfan Syndrome	Meningocele	ORPHA:558
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Conjunctivitis, Increased circulating IgM level, Elevated circul...	ORPHA:99827
Yellow Fever	Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra...	ORPHA:99829
Carney Complex	Hirsutism, Increased body weight, Abdominal obesity, Multiple lentigines, Multiple cafe-au-lait s...	ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Hirsutism, Increased body weight, Weight loss, Truncal obesity, Abdominal obes...	ORPHA:99889
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Disproportionate short stature	OMIM:276820

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 Kdm8

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 Kdm8.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Kdm8^{tm1a(EUCOMM)Wtsi/Ics}	PMC6459510
JMJD5 links CRY1 function and proteasomal degradation.	PLoS biology (November 2018)	Kdm8^{tm1a(EUCOMM)Wtsi}	PMC6291157

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
Kdm8^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Kdm8^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Kdm8^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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

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Gene: Kdm8 MGI:1924285

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

X-ray

X-ray

Echo

X-ray

X-ray

Adult LacZ

OPT E9.5

X-ray

Auditory Brain Stem Response

Human diseases caused by Kdm8 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data