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

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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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
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	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

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

Echo

M-Mode Images

68 Images

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OPT E9.5

Embryo reconstruction

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

29 Images

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Adult LacZ

LacZ Images Wholemount

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

29 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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Embryo LacZ

LacZ images wholemount

4 Images

View images

X-ray

XRay Images Hind Leg and Hip

1 Images

View images

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 (1277 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	Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ...	OMIM:177650
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Autosomal Dominant Keratitis	Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co...	ORPHA:2334
Uveal Melanoma	Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili...	ORPHA:39044
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Optic Atrophy 3, Autosomal Dominant	Cataract, Tremor, Optic atrophy, Optic disc pallor	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	Megalocornea, Persistent pupillary membrane, Developmental cataract	OMIM:178900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Iris cyst, Hypoplasia of the fovea, 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	Presenile cataracts, Hypoplasia of the fovea	OMIM:136520
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o...	OMIM:617319
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Aniridia 3	Cataract	OMIM:617142
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma	OMIM:616428
Megalocornea	Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill...	OMIM:309300
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Aniridia 1	Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n...	OMIM:106210
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Coats Disease	Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm...	ORPHA:190
Anterior Segment Dysgenesis 6	Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m...	OMIM:617315
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Bardet-Biedl Syndrome 18	Retinal dystrophy, Rod-cone dystrophy, Cataract	OMIM:615995
Idiopathic Anterior Uveitis	Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle...	ORPHA:280914
Spastic Ataxia-Corneal Dystrophy Syndrome	Developmental cataract, Corneal dystrophy, Optic atrophy	ORPHA:2572
Ectopia Lentis Et Pupillae	Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe...	OMIM:225200
Retinitis Pigmentosa 40	Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo...	OMIM:613801
Glaucoma 3, Primary Congenital, E	Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio	OMIM:617272
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ...	ORPHA:171673
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Juvenile cataract, Arrhythmia	OMIM:212500
Intermediate Uveitis	Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Vas...	ORPHA:279914
Central Retinal Vein Occlusion	Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg...	ORPHA:411527
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti...	OMIM:616468
Nathalie Syndrome	Cataract, Arrhythmia	ORPHA:2663
Vernal Keratoconjunctivitis	Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu...	ORPHA:70476
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	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	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Microphthalmia, Isolated, With Cataract 1	Cataract, Miosis	OMIM:156850
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Aniridia 2	Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia	OMIM:617141
Spastic Paraparesis And Deafness	Cataract, Tremor	OMIM:312910
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Idiopathic Panuveitis	Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu...	ORPHA:280921
Corneal Dystrophy, Groenouw Type I	Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy	OMIM:121900
Tietz Albinism-Deafness Syndrome	Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides	OMIM:103500
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter...	OMIM:619947
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph...	OMIM:221900
Retinitis Pigmentosa 9	Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata...	OMIM:180104
Leg, Absence Deformity Of, With Congenital Cataract	Optic nerve dysplasia, Progressive cataract, Developmental cataract	OMIM:246000
Stickler Syndrome Type 2	Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90654
Cataract 21, Multiple Types	Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,...	OMIM:610202
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn...	ORPHA:364055
Leber Hereditary Optic Neuropathy, Modifier Of	Leber optic atrophy, Optic atrophy	OMIM:308905
Trichomegaly	Cataract	OMIM:190330
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Cataract-Microcornea Syndrome	Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c...	ORPHA:708
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Cataract,...	OMIM:614292
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col...	ORPHA:1473
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Leber Congenital Amaurosis 2	Attenuation of retinal blood vessels, Cataract, Keratoconus, Fundus atrophy, Optic disc pallor, P...	OMIM:204100
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis	OMIM:251750
Dilution, Pigmentary	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:126070
Anterior Segment Dysgenesis 2	Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an...	OMIM:610256
Griscelli Syndrome Type 3	Hypopigmentation of hair, Iris hypopigmentation, Partial albinism	ORPHA:79478
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal blood vessels, Keratoconus, Opti...	OMIM:604393
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Spastic Ataxia 7, Autosomal Dominant	Congenital miosis, Optic atrophy	OMIM:108650
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Posterior Polymorphous Corneal Dystrophy	Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal...	ORPHA:98973
Waardenburg Syndrome, Type 2B	White forelock, Heterochromia iridis, Premature graying of hair	OMIM:600193
Anterior Segment Dysgenesis 3	Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,...	OMIM:601631
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Vitreoretinal Degeneration, Snowflake Type	Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi...	OMIM:193230
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta...	OMIM:133780
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia	ORPHA:1068
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Rod-cone dystrophy, Microcornea	OMIM:619082
Optic Atrophy 2	Tremor, Optic atrophy	OMIM:311050
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ...	OMIM:305390
Phacoanaphylactic Uveitis	Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn...	ORPHA:209959
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Olivopontocerebellar Atrophy-Deafness Syndrome	Chorioretinal coloboma, Optic atrophy	ORPHA:2732
Norrie Disease	Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ...	OMIM:310600
Oculoauricular Syndrome	Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula...	OMIM:612109
Galactosemia Iv	Cataract	OMIM:618881
Iridocorneal Endothelial Syndrome	Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante...	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
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Motor axonal neuropathy, Mydriasis	ORPHA:247815
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Reduced circu...	OMIM:618944
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten...	OMIM:616188
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys...	OMIM:251270
Iatrogenic Botulism	Orthostatic hypotension, Mydriasis	ORPHA:254509
Intestinal Botulism	Mydriasis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Heterochromia iridis, Premature graying of hair	ORPHA:66633
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract	OMIM:604219
Retinitis Pigmentosa 46	Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d...	OMIM:612572
Oculocutaneous Albinism, Type Viii	Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation, Iris tran...	OMIM:619165
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Hec Syndrome	Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm...	ORPHA:2119
Corneal Dystrophy, Posterior Polymorphous, 1	Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
Waardenburg Syndrome, Type 4B	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613265
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Cataract	OMIM:610092
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph...	ORPHA:101082
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Eales Disease	Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin...	ORPHA:40923
Galactosemia Ii	Cataract	OMIM:230200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Yemenite Deaf-Blind Hypopigmentation Syndrome	Iris coloboma, Chorioretinal coloboma, Microcornea	OMIM:601706
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia	ORPHA:99000
Wound Botulism	Cardiac arrest, Mydriasis	ORPHA:178475
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Isolated Aniridia	Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia, Cataract	ORPHA:250923
Oculocutaneous Albinism Type 6	Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul...	ORPHA:370097
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A...	ORPHA:54
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract	OMIM:619649
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch...	OMIM:614195
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Attenuation of retinal blood vessels, Optic atrophy	OMIM:165510
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c...	OMIM:193220
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Bilateral Acute Depigmentation Of The Iris	Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio...	ORPHA:69736
Isolated Optic Nerve Hypoplasia/Aplasia	Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,...	ORPHA:137902
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant	Optic atrophy	OMIM:165199
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori...	OMIM:212550
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Xeroderma Pigmentosum, Complementation Group D	Conjunctivitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Corneal neovasculari...	OMIM:278730
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Leber Congenital Amaurosis	Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Absent foveal reflex, Optic disc pallor...	OMIM:300476
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis	ORPHA:163934
Leber Congenital Amaurosis 8	Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment...	OMIM:613835
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Optic Atrophy--Spastic Paraplegia Syndrome	Optic atrophy	OMIM:311100
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede...	ORPHA:67043
Nathalie Syndrome	Cataract, Abnormal EKG	OMIM:255990
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse...	OMIM:275400
Optic Atrophy 5	Optic atrophy	OMIM:610708
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Retinal dystrophy, Cataract	OMIM:610156
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Ceroid Lipofuscinosis, Neuronal, 3	Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Retinal degeneration, ...	OMIM:204200
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Inhalational Botulism	Mydriasis	ORPHA:254504
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Optic atrophy	OMIM:136600
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P...	OMIM:204000
Botulism	Mydriasis, Arrhythmia	ORPHA:1267
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Reduced antigen-specific T cell proliferation, Increased circulating I...	OMIM:617241
Autosomal Recessive Spastic Paraplegia Type 69	Cataract, Hand tremor	ORPHA:401830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor	OMIM:616171
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Infant Botulism	Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension	ORPHA:178478
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex	OMIM:615147
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Ir...	ORPHA:231736
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma	OMIM:216820
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa...	ORPHA:67042
Foodborne Botulism	Mydriasis, Arrhythmia	ORPHA:228371
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy	OMIM:617087
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis	OMIM:613834
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization	OMIM:615225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl...	OMIM:613154
Waardenburg Syndrome, Type 2D	Heterochromia iridis	OMIM:608890
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Sensory axonal neuropathy, Optic atrophy	ORPHA:329314
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Limb dystonia, P...	OMIM:175780
Serotonin Syndrome	Hypotension, Mydriasis, Abnormality of the autonomic nervous system, Hypertension, Tremor, Tachyc...	ORPHA:43116
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:177910
Cherubism	Macular scar, Optic neuropathy, Marcus Gunn pupil	OMIM:118400
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Increased alpha-globulin	OMIM:235900
Vitreoretinopathy, Neovascular Inflammatory	Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe...	OMIM:193235
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Retinitis Pigmentosa 14	Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos...	OMIM:600132
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis	OMIM:617388
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Retinitis Pigmentosa 2	Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,...	OMIM:312600
Hyperchlorhidrosis, Isolated	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:143860
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle, Miosis	OMIM:156600
2Q24 Microdeletion Syndrome	Cataract, Coloboma, Abnormality iris morphology	ORPHA:1617
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Corneal opacity, Ectopia lentis	OMIM:613086
Persistent Hyperplastic Primary Vitreous	Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Persistent pupillary membrane...	ORPHA:91495
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Telangiectasia, Hypertension, Leukocoria	OMIM:219250
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Congenital posterior occipital alopecia, ...	ORPHA:79414
Waardenburg Syndrome, Type 4A	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:277580
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:610163
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Exudative Vitreoretinopathy 4	Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo...	OMIM:601813
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Glaucoma 1, Open Angle, P	Increased cup-to-disc ratio	OMIM:177700
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Griscelli Syndrome Type 1	Premature graying of hair, Iris hypopigmentation, White hair, Hyperlipidemia, Partial albinism	ORPHA:79476
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Maternally-Inherited Diabetes And Deafness	Retinopathy, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Hypertrop...	ORPHA:225
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Waardenburg Syndrome, Type 2A	Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente...	OMIM:193510
Methionine Malabsorption Syndrome	White hair, Blue irides, Positive ferric chloride test	OMIM:250900
Dwarfism With Stiff Joints And Ocular Abnormalities	Retinal detachment, Cataract	OMIM:127200
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Intracranial Hypertension, Idiopathic	Papilledema, Hypertension	OMIM:243200
Peroxisome Biogenesis Disorder 9B	Cataract, Rod-cone dystrophy, Cardiomyopathy	OMIM:614879
Microspherophakia With Hernia	Retinal detachment, Microspherophakia, Superior lens subluxation	OMIM:157150
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Fine hair, Slow-gr...	ORPHA:90368
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Long eyelashes, Increased circulating IgE level	OMIM:616069
Senior-Loken Syndrome	Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation, Cataract	ORPHA:3156
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti...	OMIM:615233
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Oculocutaneous Albinism Type 1	Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect...	ORPHA:352731
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Hypertension, Ectopia pupillae	ORPHA:1885
Severe Combined Immunodeficiency, X-Linked	Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,...	OMIM:300400
Axenfeld-Rieger Syndrome, Type 3	Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop...	OMIM:602482
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia	ORPHA:171844
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Optic disc pallor, Optic atrophy, Facial palsy	OMIM:259720
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Cataract, Optic disc pallor	ORPHA:3173
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati...	OMIM:619632
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis	ORPHA:1259
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Iris hypopigmentation, Cataract	ORPHA:67048
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Microphthalmia, Syndromic 13	Iris coloboma, Chorioretinal coloboma, Microcornea	OMIM:300915
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron, Increased circulating IgE level	OMIM:212050
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Truncal obesity	OMIM:240900
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor	OMIM:609021
Phenylketonuria	Generalized hypopigmentation, Fair hair, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, C...	OMIM:261600
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Optic atrophy, Intention tremor, Cataract, Decreased nerve conduction velocit...	OMIM:612674
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Mucoepithelial Dysplasia, Hereditary	Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ...	OMIM:158310
Bardet-Biedl Syndrome 13	Obesity, Bone spicule pigmentation of the retina	OMIM:615990
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Cataract 48	Cataract, Miosis	OMIM:618415
Leber Hereditary Optic Neuropathy	Postural tremor, Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, ...	ORPHA:104
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Hyperkalemia	OMIM:609153
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Intention tremor, Cataract, Tremor, Pigmentary retinopathy	OMIM:614307
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Xeroderma Pigmentosum, Complementation Group G	Cataract, Tremor	OMIM:278780
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ...	OMIM:203200
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Cataract, Limb tremor	OMIM:616647
Cataract 47	Cataract, Microcornea	OMIM:612018
Ocular Pigment Dispersion With Or Without Glaucoma	Optic atrophy	OMIM:600510
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:411515
Congenital Hydrocephalus	Macular hypoplasia, Iris coloboma, Optic atrophy	ORPHA:2185
Ceroid Lipofuscinosis, Neuronal, 11	Retinal dystrophy, Optic atrophy	OMIM:614706
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Increased circulating IgE level, Lack of T cell function, Abnormality of humor...	ORPHA:277
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon, Prolonged QT interval, Arrhythmia	ORPHA:2151
Spastic Paraplegia 74, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy	OMIM:616451
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy	OMIM:619727
Gyrate Atrophy Of Choroid And Retina	Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch...	ORPHA:414
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Nail dystrophy	ORPHA:89843
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta...	OMIM:615184
Retinitis Pigmentosa 83	Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina...	OMIM:618173
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Cofs Syndrome	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Retinitis Pigmentosa	Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu...	ORPHA:791
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment...	ORPHA:2885
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Mydriasis, Abnormal autonomic nervous system physiology, Choreoathetosis, Tremor...	ORPHA:2131
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy	ORPHA:1369
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair, Failure to thrive, Increased...	OMIM:256500
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Cocaine Intoxication	Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia...	ORPHA:90068
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Chorioretinal degeneration, Posterior subcapsular cataract, Microcornea	OMIM:615458
Autosomal Recessive Stickler Syndrome	Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy	ORPHA:250984
Oculocutaneous Albinism Type 3	Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig...	ORPHA:79433
Igg4-Related Aortitis	Increased circulating IgG4 level, Weight loss, Increased circulating antibody level, Elevated cir...	ORPHA:449400
Bickerstaff Brainstem Encephalitis	Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous system...	ORPHA:79138
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Arachnoid Cyst	Subarachnoid hemorrhage, Cranial nerve compression, Mydriasis, Facial palsy	ORPHA:2356
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Lingual dystonia, Optic atrophy, Optic disc pallor, Corneal scarring, Ax...	ORPHA:404454
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Iris coloboma, Chorioretinal coloboma, Retinal coloboma	ORPHA:2921
Developmental And Epileptic Encephalopathy 93	Iris coloboma, Optic atrophy	OMIM:618012
Flynn-Aird Syndrome	Cataract, Rod-cone dystrophy	OMIM:136300
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Kimura Disease	Increased circulating IgE level	ORPHA:482
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea	ORPHA:2528
Waardenburg Syndrome Type 2	Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ...	ORPHA:895
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibo...	ORPHA:169154
Pituitary Apoplexy	Hypotension, Hypertension, Mydriasis	ORPHA:95613
Enhanced S-Cone Syndrome	Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy	OMIM:268100
Zika Virus Disease	Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro...	ORPHA:448237
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c...	OMIM:605258
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgE, Failure to thrive, Decreased circulat...	OMIM:619824
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract, Choroideremia	OMIM:116600
Scorpion Envenomation	Mydriasis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment...	ORPHA:466677
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Optic disc pallor	OMIM:613730
Riboflavin Transporter Deficiency	Iris hypopigmentation, Abnormal autonomic nervous system physiology, Hypertension, Tremor, Abnorm...	ORPHA:97229
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Spastic Paraplegia 5A, Autosomal Recessive	Postural tremor, Cataract, Optic atrophy	OMIM:270800
Oculocutaneous Albinism Type 4	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re...	ORPHA:79435
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:248000
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Increased circulating IgE level	OMIM:618523
Pellagra-Like Syndrome	Cataract	OMIM:260650
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea	ORPHA:3214
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Immunodeficiency 86	Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level	OMIM:619549
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Failure to thrive, Hirsutism, Low posterior hairline, Generalized hi...	ORPHA:1895
Griscelli Syndrome	Abnormal circulating lipid concentration, Abnormal eyebrow morphology, Premature graying of hair,...	ORPHA:381
Retinitis Pigmentosa 50	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt...	OMIM:613194
Albinism, Oculocutaneous, Type Vii	Albinism, Iris transillumination defect	OMIM:615179
Linear Verrucous Nevus Syndrome	Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Netherton Syndrome	Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Trichorrhexis nodosa, Decreased c...	ORPHA:634
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Peripheral axonal neuropathy, Optic atrophy, Cardiomyopathy	ORPHA:320360
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Posterior polar cataract, Optic disc pallor	OMIM:616562
Congenital Varicella Syndrome	Cataract	ORPHA:291
Coloboma, Ocular, Autosomal Dominant	Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma...	OMIM:120200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d...	OMIM:152950
Proteus-Like Syndrome	Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Retinal detachment	ORPHA:2969
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati...	ORPHA:79432
Peeling Skin Syndrome 1	Increased circulating IgE level, Nail dystrophy, Brittle hair	OMIM:270300
Combined Oxidative Phosphorylation Deficiency 13	Cataract, Choreoathetosis, Dystonia, Decreased nerve conduction velocity	OMIM:614932
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract...	ORPHA:1345
Chromosome Xp11.3 Deletion Syndrome	Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca...	OMIM:300578
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos...	OMIM:300424
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Corneal opacity, Large for gestational age, Microcornea	ORPHA:2432
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Stickler Syndrome, Type Ii	Retinal detachment, Abnormal vitreous humor morphology, Cataract	OMIM:604841
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Warburg-Cinotti Syndrome	Retinal dystrophy, Limbal stem cell deficiency, Symblepharon, Corneal neovascularization, Decreas...	OMIM:618175
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal ...	ORPHA:370959
Alexander Disease	Microcoria	OMIM:203450
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Cone-Rod Dystrophy 17	Optic disc pallor, Cone/cone-rod dystrophy	OMIM:615163
Retinitis Pigmentosa 26	Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:608380
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia...	ORPHA:998
Tricho-Retino-Dento-Digital Syndrome	Juvenile cataract, Abnormality of retinal pigmentation	ORPHA:1264
Congenital Muscular Dystrophy, Fukuyama Type	Retinal dysplasia, Cataract, Dilated cardiomyopathy, Optic atrophy	ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Joubert Syndrome 9	Astigmatism, Retinal dystrophy, Cataract	OMIM:612285
Leukodystrophy, Hypomyelinating, 22	Astigmatism, Optic disc pallor	OMIM:619328
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Generalized dystonia, Peripheral axonal neuropathy, Optic di...	OMIM:619389
Waardenburg Syndrome, Type 3	Premature graying of hair, Synophrys, Hypopigmented skin patches, White forelock, Heterochromia i...	OMIM:148820
Triple A Syndrome	Iris coloboma, Optic atrophy, Motor axonal neuropathy	ORPHA:869
Neurodegeneration With Brain Iron Accumulation	Retinopathy, Dystonia, Optic atrophy	ORPHA:385
Irvan Syndrome	Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ...	ORPHA:209943
Posterior Column Ataxia With Retinitis Pigmentosa	Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret...	OMIM:609033
Gyrate Atrophy Of Choroid And Retina	Chorioretinal atrophy, Posterior subcapsular cataract, Foveoschisis, Macular thickening	OMIM:258870
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Mydriasis	OMIM:619351
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Ermine Phenotype	Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ...	ORPHA:999
Infantile Refsum Disease	Cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Cataract, Arrhythmia, Facial palsy	ORPHA:772
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Cataract, Arrhythmia, Miosis,...	OMIM:266500
Striatonigral Degeneration, Infantile	Choreoathetosis, Dystonia, Optic atrophy	OMIM:271930
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Cataract	OMIM:617228
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Urban-Rogers-Meyer Syndrome	Obesity, Increased circulating IgE level	ORPHA:3409
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology, Cataract	ORPHA:90653
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Obesity, Blue irides	OMIM:614613
X-Linked Intellectual Disability, Najm Type	Cataract, Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia	ORPHA:163937
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation, Failure to thrive in infancy, Athetosis	ORPHA:834
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:608106
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Cafe-au-lait spot, Hand tremor, Frontal balding, Blue irides, Truncal obesity, Early balding	ORPHA:3041
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Nance-Horan Syndrome	Retinal detachment, Cataract, Microcornea	ORPHA:627
Kid Syndrome	Conjunctivitis, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Punctat...	ORPHA:477
Harel-Yoon Syndrome	Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy,...	OMIM:617183
Bardet-Biedl Syndrome 9	Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Night Blindness, Congenital Stationary, Type 1G	Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor	OMIM:616389
Spinocerebellar Ataxia, Autosomal Recessive 12	Retinal degeneration, Optic atrophy	OMIM:614322
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ...	OMIM:268315
Microphthalmia With Brain And Digit Anomalies	Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea	ORPHA:139471
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy	ORPHA:2773
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Agammaglobulinemia, Decreased ...	OMIM:300310
Familial Dysautonomia	Abnormal pupil morphology, Corneal erosion, Optic atrophy, Hypertension, Heterochromia iridis, Co...	ORPHA:1764
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi...	OMIM:609049
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cataract 17, Multiple Types	Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea	OMIM:611544
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Cataract, Retinopathy, Optic atrophy	ORPHA:544469
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Achondrogenesis Type 2	Retinal detachment, Abnormal vitreous humor morphology, Cataract, Lens subluxation	ORPHA:93296
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cataract, Optic atrophy	OMIM:617481
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe...	OMIM:601552
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Synophrys, Heterochromia iridis, Abnormality of retinal pigmentation	ORPHA:1390
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Increased circulating IgE level, Decreased circulating total IgM...	OMIM:619752
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr...	OMIM:609260
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Hand tremor, Decreased sens...	OMIM:162400
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Astigmatism, Cataract, Optic atrophy, Ectopia pupillae	OMIM:618727
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Increased circulating IgE level	OMIM:614328
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy	OMIM:619527
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Spastic Paraplegia 75, Autosomal Recessive	Astigmatism, Optic atrophy	OMIM:616680
Hermansky-Pudlak Syndrome 11	Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Impaired ...	OMIM:619172
Triopia	Abnormal pupil morphology, Iris coloboma, Microcornea	ORPHA:3374
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste...	OMIM:231550
Cataract 16, Multiple Types	Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract	OMIM:613763
Distal Monosomy 6P	Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea...	ORPHA:96125
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Cardiomyopathy	OMIM:615352
Waardenburg Syndrome, Type 2E	Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta...	OMIM:611584
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Macular edema, Anterior chamber flare, Posterior synechiae of the anterior c...	ORPHA:91500
Piebald Trait	Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti...	OMIM:172800
Griscelli Syndrome Type 2	Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hyperlipidemia, Parti...	ORPHA:79477
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormalit...	ORPHA:85167
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Autosomal Recessive Spastic Paraplegia Type 57	Abnormality of peripheral nerve conduction, Optic atrophy	ORPHA:431329
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Increased circulating IgE level	OMIM:147060
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Obesity	OMIM:300803
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea	OMIM:116200
Microphthalmia, Isolated, With Coloboma 9	Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Retinal detachment, Macular colob...	OMIM:615145
Optic Atrophy 6	Optic atrophy	OMIM:258500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Central Precocious Puberty	Abnormality of secondary sexual hair, Cafe-au-lait spot, Overgrowth, Obesity, Increased body weight	ORPHA:759
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Retinal arteriolar constriction, Papilledema	OMIM:124950
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Facial Spasm	Anisocoria	OMIM:134300
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation, Hyperkalemia, Hyponatremia	OMIM:240200
Srd5A3-Cdg	Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract	ORPHA:324737
4H Leukodystrophy	Cataract, Tremor, Dystonia, Optic atrophy	ORPHA:289494
Oculocutaneous Albinism	Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ...	ORPHA:55
Warburg Micro Syndrome 1	Developmental cataract, Optic atrophy, Microcornea	OMIM:600118
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Tortuosity of conjunctival vessels, Macular degeneration, Intention tremor, Cataract	ORPHA:284289
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Alopecia, Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Motor axonal neuropathy, Microcornea, Cataract, Inten...	ORPHA:48431
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Retinitis Pigmentosa 37	Rod-cone dystrophy, Posterior subcapsular cataract, Nuclear cataract, Cystoid macular degeneratio...	OMIM:611131
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Short Syndrome	Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o...	ORPHA:3163
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Cataract, Peripheral axonal neuropathy	OMIM:619851
Leber Congenital Amaurosis 15	Peripapillary atrophy, Slow pupillary light response, Dull foveal reflex, Retinal degeneration, A...	OMIM:613843
Tonne-Kalscheuer Syndrome	Tremor, Blue irides, Fine hair	OMIM:300978
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract	OMIM:600881
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Increased circulating IgE level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1	Decreased T cell activation, Decreased circulating IgE, Failure to thrive, Impaired Ig class swit...	OMIM:308230
Autosomal Recessive Spastic Paraplegia Type 75	Titubation, Temporal optic disc pallor, Astigmatism	ORPHA:459056
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ...	OMIM:617547
Microphthalmia, Syndromic 5	Coloboma, Retinal dystrophy, Microcornea, Optic nerve hypoplasia, Cataract	OMIM:610125
Weill-Marchesani Syndrome	Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis	ORPHA:3449
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Cataract, Peripheral axonal n...	ORPHA:496790
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Choreoathetosis, Decreased nerve conduction velocity, Optic disc pallor, Intention...	ORPHA:98890
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye...	OMIM:311070
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:290
Retinitis Pigmentosa 1	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenuation of retina...	OMIM:619260
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Hermansky-Pudlak Syndrome 8	Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Impaired ...	OMIM:614077
Dermatitis, Atopic	Conjunctivitis, Cataract, Keratoconus	OMIM:603165
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Coloboma, Corneal opacity	OMIM:613153
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:264350
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Retinal dystrophy, Optic disc pallor	OMIM:616079
Retinitis Pigmentosa 78	Cystoid macular edema, Optic disc pallor	OMIM:617433
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Usher Syndrome, Type 1M	Optic disc pallor, Drusen	OMIM:618632
22Q11.2 Deletion Syndrome	Posterior embryotoxon, Optic atrophy, Aganglionic megacolon, Retinal arteriolar tortuosity, Corne...	ORPHA:567
Infantile-Onset Spinocerebellar Ataxia	Abnormality of the autonomic nervous system, Optic atrophy	ORPHA:1186
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Iris hypopigmentation, Cataract, Low posterior hairline, Aplasia/Hyp...	ORPHA:85194
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Edict Syndrome	Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus	OMIM:614303
Sturge-Weber Syndrome	Pulmonary embolism, Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telan...	ORPHA:3205
Knobloch Syndrome 1	Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Slow pupillary light re...	OMIM:267750
Frontofacionasal Dysplasia	Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Microcornea, Iris coloboma, ...	ORPHA:1791
Alg2-Cdg	Iris coloboma, Cataract	ORPHA:79326
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Oculocutaneous Albinism Type 1B	Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ...	ORPHA:79434
Waardenburg Syndrome Type 1	Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches,...	ORPHA:894
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Cln3 Disease	Optic atrophy, T-wave inversion, Bull's eye maculopathy, Cataract, Bradycardia, Pigmentary retino...	ORPHA:228346
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Achromatopsia 2	Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Hypoplasia of the fovea, Myopic asti...	OMIM:216900
Otodental Syndrome	Lens coloboma, Microcornea, Iris coloboma, Cataract, Retinal coloboma	ORPHA:2791
Achromatopsia 3	Cataract	OMIM:262300
Pelvis-Shoulder Dysplasia	Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma	OMIM:169550
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Blue irides, Limb tremor, Obesity	OMIM:105830
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair	ORPHA:411511
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Macular Dystrophy With Central Cone Involvement	Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dystrophy, Optic disc p...	OMIM:616170
Chromosome Xq21 Deletion Syndrome	Chorioretinal degeneration, Obesity, Chorioretinal atrophy, Choroideremia	OMIM:303110
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Retinal dystrophy, Cataract, Limb tremor, Peripheral demyelination	OMIM:614877
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macular hypoplasia, Iris coloboma, Optic atrophy	OMIM:615219
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Oculocutaneous Albinism Type 1A	Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ...	ORPHA:79431
Hypomelanosis Of Ito	Iris coloboma, Cataract	OMIM:300337
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Hermansky-Pudlak Syndrome 5	Albinism, Impaired ADP-induced platelet aggregation, Iris transillumination defect, Ocular albinism	OMIM:614074
Usher Syndrome, Type Iiib	Optic disc pallor	OMIM:614504
Autosomal Recessive Spastic Paraplegia Type 26	Cataract, Dystonia	ORPHA:101006
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Anencephaly	ORPHA:2476
Albinism, Oculocutaneous, Type Ia	Ocular albinism, Albinism, Astigmatism, Hypopigmentation of hair, Blue irides, White hair, Absent...	OMIM:203100
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Tremor, Obesity	ORPHA:98794
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Astigmatism, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract, Cardiomyopathy	OMIM:301075
Congenital Microcoria	Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo...	ORPHA:566
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Choreoathetosis, Abnormality of retinal pigmentation, Cataract, Abnormal retinal v...	ORPHA:2715
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Abnormality of retinal pigmentation	ORPHA:3085
Distal Monosomy 13Q	Iris coloboma, Optic atrophy	ORPHA:1590
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Cataract	ORPHA:1856
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Wolfram Syndrome 1	Optic atrophy, Cataract, Tremor, Pigmentary retinopathy, Cardiomyopathy	OMIM:222300
Piebaldism	Piebaldism, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches, White forelock...	ORPHA:2884
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu...	OMIM:115250
Revesz Syndrome	Leukocoria, Megalocornea, Exudative retinopathy	OMIM:268130
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA level, Fail...	OMIM:619510
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Optic atrophy	OMIM:619052
Mitochondrial Complex I Deficiency, Nuclear Type 34	Optic disc pallor, Optic atrophy	OMIM:618776
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves,...	ORPHA:88628
Glaucoma 1, Open Angle, F	Increased cup-to-disc ratio	OMIM:603383
Retinitis Pigmentosa 12	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:600105
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Increased circulating IgE level, Alopecia	OMIM:304790
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Spinocerebellar Ataxia 7	Macular degeneration, Tremor, Pigmentary retinopathy, Optic atrophy	OMIM:164500
Walker-Warburg Syndrome	Optic atrophy, Retinal dystrophy, Microcornea, Retinal dysplasia, Iris coloboma, Cataract, Cornea...	ORPHA:899
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C...	ORPHA:585
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Coloboma, Optic atrophy	OMIM:612379
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria	OMIM:180200
Leber Congenital Amaurosis 14	Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor	OMIM:613341
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Rod-cone dystrophy, Optic atrophy, Torticollis, Astigmatism, Unilateral facial palsy	OMIM:618547
Generalized Pseudohypoaldosteronism Type 1	Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ...	ORPHA:171876
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida	ORPHA:63260
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:614736
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Coloboma, Microcornea, Cataract, Ectopia pupillae, Sclerocornea	OMIM:615877
Stiff Skin Syndrome	Cataract	OMIM:184900
Cataract 3, Multiple Types	Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Congenital Sialidosis Type 2	Telangiectasia, Optic atrophy, Abnormal EKG, Developmental cataract, Hypoplasia of the fovea, Cat...	ORPHA:93400
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr...	OMIM:618394
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Optic disc pallor, Optic atrophy	OMIM:612989
Baralle-Macken Syndrome	Cafe-au-lait spot, Cataract, Hirsutism, Obesity, Dystonia	OMIM:619255
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Alopecia of scalp, Panhypogammaglobulinemia, Increased circulating IgE level	OMIM:602450
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Choreoathetosis, Long eyelashes, Hyperkalemia, Increased circulatin...	OMIM:617595
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Elevated circulating long chain fatty acid concentration, Failure to thrive, Ca...	OMIM:214110
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Optic atrophy	OMIM:618228
Vici Syndrome	Abnormal macular morphology, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Cardio...	ORPHA:1493
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula...	ORPHA:2363
Noonan Syndrome 4	High anterior hairline, Sparse eyebrow, Curly hair, Large for gestational age, Blue irides	OMIM:610733
X-Linked Spinocerebellar Ataxia Type 3	Optic atrophy	ORPHA:85297
Noonan Syndrome 13	Cafe-au-lait spot, Broad eyebrow, Multiple lentigines, Blue irides, Low posterior hairline, Gener...	OMIM:619087
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cataract, Optic disc pallor, Corneal opacity	ORPHA:309288
Axenfeld-Rieger Syndrome, Type 1	Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop...	OMIM:180500
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Opto-chiasmatic atrophy, Optic atrophy, Cardiomyopathy	OMIM:620089
Hyperostosis Frontalis Interna	Obesity, Hypertrichosis	OMIM:144800
Immunodeficiency 23	Failure to thrive, Increased circulating IgG level, Increased circulating IgE level, Increased ci...	OMIM:615816
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Decreased motor nerve cond...	ORPHA:99949
Aspergillosis	Keratitis, Increased circulating IgE level	ORPHA:1163
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Lead Poisoning	Small for gestational age, Increased LDL cholesterol concentration, Decreased HDL cholesterol con...	ORPHA:330015
Duane Retraction Syndrome	Abnormal pupil morphology, Blepharospasm, Central heterochromia, Optic disc hypoplasia, Microcorn...	ORPHA:233
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Optic atrophy	ORPHA:207
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Increased circu...	ORPHA:37042
Leber Optic Atrophy And Dystonia	Athetosis, Dystonia, Leber optic atrophy, Optic atrophy	OMIM:500001
Dystonia, Juvenile-Onset	Leg dystonia, Oculogyric crisis, Generalized dystonia, Cataract	OMIM:607371
Waardenburg Syndrome, Type 4C	Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore...	OMIM:613266
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Cataract, White hair	ORPHA:2720
Immunodeficiency 64 With Lymphoproliferation	Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Failur...	OMIM:618534
Flynn-Aird Syndrome	Cataract, Rod-cone dystrophy	ORPHA:2047
Leber Optic Atrophy	Postural tremor, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, ...	OMIM:535000
Sialidosis Type 1	Retinopathy, Cataract, Tremor, Decreased nerve conduction velocity, Corneal opacity, Cherry red s...	ORPHA:812
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Abnormal optic nerve morpho...	ORPHA:863
Chediak-Higashi Syndrome	Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment...	OMIM:214500
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Warburg Micro Syndrome 3	Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Cataract, Miosis	OMIM:614222
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif...	OMIM:107250
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract	ORPHA:3301
Macrosomia Adiposa Congenita	Obesity, Large for gestational age	OMIM:248100
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation, Heart block, Cataract, Miosis, Cardiomyopathy	ORPHA:773
Plague	Hypotension, Mydriasis, Arrhythmia, Hematemesis, Tachycardia, Conjunctival hyperemia	ORPHA:707
Hemochromatosis, Type 4	Cardiomyopathy, Cataract, Arrhythmia	OMIM:606069
Retinoblastoma	Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe...	ORPHA:790
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity	ORPHA:71529
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Tremor, Hematochezia, Pigmentary retinopathy	ORPHA:79095
Subependymal Nodular Heterotopia	Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele	ORPHA:101030
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo...	OMIM:102700
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Retinal dystrophy, Cataract	ORPHA:370997
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy	OMIM:610651
Oculocerebral Hypopigmentation Syndrome, Cross Type	Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract, Cornea...	ORPHA:2719
Optic Atrophy 8	Abnormal auditory evoked potentials, Mitral regurgitation, Prolonged somatosensory evoked potenti...	OMIM:616648
Juvenile Sialidosis Type 2	Cataract, Cherry red spot of the macula, Corneal opacity, Optic atrophy	ORPHA:93399
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Blau Syndrome	Iritis, Hypertension, Uveitis, Pericarditis, Nongranulomatous uveitis, Cystoid macular edema, Cat...	OMIM:186580
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Dystrophic fingernails, Increased circulating IgE level	ORPHA:2314
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Abnormal chorioretinal morphology, Failure to thrive, Ca...	ORPHA:912
Charcot-Marie-Tooth Disease Type 1E	Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Decreased nerve conduction...	ORPHA:90658
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thrive, Red hair, Obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thrive, Red hair, Obesity	ORPHA:71526
Cone-Rod Dystrophy 20	Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy	OMIM:615973
Waardenburg Syndrome, Type 1	Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Hypoplastic iris stroma, Wh...	OMIM:193500
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation	OMIM:603194
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Morning glory anomaly, Optic atrophy, Cataract	ORPHA:98673
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased circulating IgG2 level, Increased circulating IgM level, Decreased specific pneumococca...	OMIM:615513
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Alagille Syndrome	Abnormal pupil morphology, Hypertension, Telangiectasia of the skin, Corneal dystrophy, Keratoconus	ORPHA:52
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Iris hypopigmentation, Astigmatism, Tremor, Keratoconus,...	ORPHA:72
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Monilethrix	Cataract	ORPHA:573
Norrie Disease	Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Abn...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Cataract, Coloboma	OMIM:615249
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Hyperchloremia, Hyperkalemia	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Intrauterine growth retardation	OMIM:611134
Phace Association	Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal...	OMIM:606519
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Congenital Disorder Of Glycosylation, Type Id	Iris coloboma, Optic atrophy	OMIM:601110
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Hermansky-Pudlak Syndrome	Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat...	ORPHA:79430
Acrofrontofacionasal Dysostosis	Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Hypopigmented skin patches	ORPHA:1784
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Astigmatism, Iris coloboma, Peters anomaly, Chorioretinal coloboma	ORPHA:494344
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Increased body weight	ORPHA:890
Cataract 5, Multiple Types	Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract	OMIM:116800
Pgm3-Cdg	Increased circulating IgG level, Reduced antigen-specific T cell proliferation, Failure to thrive...	ORPHA:443811
Renal Hypoplasia, Bilateral	Small for gestational age, Hyperkalemia, Failure to thrive, Astigmatism, Hyponatremia	ORPHA:97362
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro...	ORPHA:1908
Schisis Association	Spina bifida, Anencephaly, Encephalocele	ORPHA:63862
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Obesity, Hypocalcemia	OMIM:603233
Oculofaciocardiodental Syndrome	Microcornea, Ectopia lentis, Iris coloboma, Cataract, Retinal detachment	ORPHA:2712
Trisomy 13	Optic atrophy, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Abnormal retinal vascular...	ORPHA:3378
Stromme Syndrome	Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ...	OMIM:243605
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Hypoalbuminemia	ORPHA:88643
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Warburg Micro Syndrome 2	Developmental cataract, Cataract, Optic atrophy, Microcornea	OMIM:614225
Chédiak-Higashi Syndrome	Hypopigmentation of the skin, Iris hypopigmentation, Abnormal platelet function, Large clumps of ...	ORPHA:167
Axial Spondylometaphyseal Dysplasia	Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Retinal dystrophy, Cataract	ORPHA:168549
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Cataract, Dilated cardiomyopathy	OMIM:618805
Adams-Oliver Syndrome 2	Developmental cataract, Optic atrophy	OMIM:614219
Marinesco-Sjögren Syndrome	Cataract, Optic atrophy	ORPHA:559
Cataract 20, Multiple Types	Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract	OMIM:116100
Charcot-Marie-Tooth Disease Type 4B2	Developmental glaucoma, Optic atrophy, Decreased distal sensory nerve action potential, Buphthalm...	ORPHA:99956
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:508533
Autoimmune Lymphoproliferative Syndrome	Decreased circulating total IgM, Increased circulating antibody level, Increased circulating IgG ...	ORPHA:3261
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgE, Failure to thrive, Decreased circulat...	OMIM:615758
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Usher Syndrome Type 2	Iris hypopigmentation, Cataract	ORPHA:231178
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Hand tremor, Synophrys, Cafe-au-lait spot, Increased body weight	ORPHA:589905
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia	ORPHA:401777
Myotonic Dystrophy 1	Facial diplegia, Cataract, Atrial flutter, First degree atrioventricular block, Atrial fibrillation	OMIM:160900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tremor, Weight loss	OMIM:613239
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Decreased circulating antibody level, Hyperkalemia, Alopecia totalis, Failure to thrive...	ORPHA:293978
Nevus Comedonicus Syndrome	Spina bifida, Spina bifida occulta	ORPHA:64754
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Optic atrophy, Cardiac arrest, Retinal dystrophy, Congestive heart...	ORPHA:49827
Familial Glucocorticoid Deficiency	Weight loss, Hyperkalemia, Generalized hyperpigmentation, Failure to thrive, Tall stature, Hypona...	ORPHA:361
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a...	ORPHA:1215
Congenital Tufting Enteropathy	Cataract, Optic disc coloboma, Punctate keratitis, Corneal erosion	ORPHA:92050
Warburg Micro Syndrome 4	Developmental cataract, Decreased motor nerve conduction velocity, Optic atrophy, Microcornea	OMIM:615663
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypokalemia, Cachexia, Cataract, Hyperpigmentation of the skin, Hypocalcemia, Hypomagne...	OMIM:175500
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Abnormal platelet aggregation	OMIM:614171
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Peroxisome Biogenesis Disorder 5A (Zellweger)	Brushfield spots, Elevated circulating phytanic acid concentration, Small for gestational age, In...	OMIM:614866
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Fai...	OMIM:618213
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Retinal arteriolar constriction, Optic atrophy	OMIM:249660
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma	ORPHA:2510
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Corneal neovascularization, Hypertension, Keratitis, Opacification of the ...	OMIM:308205
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Mu-Heavy Chain Disease	Increased circulating antibody level, Weight loss	ORPHA:100024
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Choroideremia, Microcornea, Chorioretinal dystrophy, Abnormal optic nerve morphology	ORPHA:2707
Congenital Isolated Acth Deficiency	Hyperkalemia, Hyponatremia	ORPHA:199296
Papillorenal Syndrome	Morning glory anomaly, Lens luxation, Macular degeneration, Hypertension, Cataract, Chorioretinal...	OMIM:120330
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Weight loss, Transient hypophosphatemia, Hyperkalemia, Mildly elevated crea...	ORPHA:79102
Autosomal Dominant Optic Atrophy And Cataract	Postural tremor, Resting tremor, Optic atrophy, Cerulean cataract, Anterior subcapsular cataract,...	ORPHA:67036
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Persistent pupillary membrane, Microcornea	OMIM:257850
Null Syndrome	Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne...	ORPHA:280234
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy	OMIM:207950
Waardenburg Syndrome	Abnormality of skin pigmentation, Abnormal eyebrow morphology, Premature graying of hair, Synophr...	ORPHA:3440
Congenital Analbuminemia	Small for gestational age, Increased circulating antibody level, Increased alpha-globulin, Hypopr...	ORPHA:86816
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Alport Syndrome 2, Autosomal Recessive	Hypertension, Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Jaberi-Elahi Syndrome	Optic atrophy, Choreoathetosis, Cataract, Tremor, Dystonia	OMIM:617988
Polycystic Ovary Syndrome 1	Obesity, Hirsutism	OMIM:184700
Deafness-Hypogonadism Syndrome	Heterochromia iridis	ORPHA:90646
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive	OMIM:615285
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Coenzyme Q10 Deficiency, Primary, 2	Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Optic atrophy	OMIM:614651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Laurence-Moon Syndrome	Pigmentary retinopathy, Obesity, Chorioretinal atrophy	OMIM:245800
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Reduc...	OMIM:615559
Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:427
Acute Adrenal Insufficiency	Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Increased circulating renin level...	ORPHA:95409
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating renin level, Failure to thrive, Hirsutism, Hyponatremia, Hype...	ORPHA:90791
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Decreased circulating antibody level, Elevated circulating ...	OMIM:308240
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Donnai-Barrow Syndrome	Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Cataract, Retinal detachment	OMIM:222448
Familial Isolated Hypoparathyroidism	Cataract, Arrhythmia	ORPHA:2238
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea...	OMIM:300291
Caudal Duplication	Spina bifida, Myelomeningocele	ORPHA:1756
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract, Optic nerve hypoplasia	OMIM:222765
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Astigmatism, Dystonia, Optic atrophy	OMIM:616875
Hereditary Mucoepithelial Dysplasia	Corneal dystrophy, Cataract	ORPHA:1839
Oligoarticular Juvenile Idiopathic Arthritis	Anterior chamber synechiae, Uveitis, Cataract, Band keratopathy	ORPHA:85410
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia	ORPHA:99845
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology	ORPHA:250999
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
C3 Glomerulopathy	Central serous chorioretinopathy, Decreased circulating complement C3 concentration, Paraproteine...	ORPHA:329918
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria, Telangiectasia of the skin	ORPHA:1556
Cerebrotendinous Xanthomatosis	Abnormality of central somatosensory evoked potentials, Angina pectoris, Myocardial infarction, C...	OMIM:213700
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia, Vitiligo	ORPHA:199299
Prader-Willi Syndrome	Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig...	OMIM:176270
Wildervanck Syndrome	Pseudopapilledema	OMIM:314600
Malignant Atrophic Papulosis	Ischemic stroke, Myocardial infarction, Cataract, Gastrointestinal hemorrhage, Telangiectasia of ...	ORPHA:679
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Generalized dystonia	ORPHA:79107
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia, Increased body weight	ORPHA:94086
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Optic disc coloboma, Corneal erosion	OMIM:270420
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Arrhythmia, Cardiomyopathy	OMIM:249270
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Wyburn-Mason Syndrome	Iris hypopigmentation	ORPHA:53719
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive...	ORPHA:98754
Koolen-De Vries Syndrome	Small for gestational age, Iris hypopigmentation, Fair hair, Failure to thrive, Cataract, Abnorma...	OMIM:610443
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cataract, Head tremor, Resting tremor, Optic atrophy	ORPHA:314404
Microphthalmia, Lenz Type	Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Optic disc coloboma	ORPHA:568
Amaurosis-Hypertrichosis Syndrome	Retinal dystrophy, Optic atrophy, Cone/cone-rod dystrophy	ORPHA:1021
Muckle-Wells Syndrome	Conjunctivitis, Uveitis, Optic atrophy, Vasculitis	ORPHA:575
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea	ORPHA:1806
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Elevated circulating long chain fatty acid concentration, Failure to thrive, Ca...	OMIM:214100
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level, Weight loss, Hypoalbuminemia	OMIM:209950
Ifap Syndrome 2	Keratitis, Cataract, Keratoconjunctivitis sicca	OMIM:619016
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Apparent Mineralocorticoid Excess	Small for gestational age, Failure to thrive, Hypokalemia, Decreased circulating renin level	OMIM:218030
Megalocornea-Intellectual Disability Syndrome	Megalocornea, Hypoplasia of the iris, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho...	ORPHA:2479
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Keratitis, Cataract	OMIM:612843
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I...	OMIM:618048
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Classic Homocystinuria	Pulmonary embolism, Optic atrophy, Cerebral ischemia, Intracranial hemorrhage, Abnormality of ret...	ORPHA:394
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE...	ORPHA:449432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy, Dilated cardiomyopathy, Retinal dysplasia, Cataract,...	OMIM:253800
Trichothiodystrophy 4, Nonphotosensitive	Keratoconjunctivitis sicca, Optic atrophy, Microcornea	OMIM:234050
Usher Syndrome	Abnormality of retinal pigmentation, Astigmatism, Cataract, Hypertrophic cardiomyopathy, Vestibul...	ORPHA:886
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive...	ORPHA:98793
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating creatine ...	ORPHA:94093
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Hyperphosphatemia, Melanocytic nevus, Blue irides	OMIM:101800
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, ...	OMIM:609541
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive...	ORPHA:177901
Juvenile Xanthogranuloma	Iritis, Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Uveitis	ORPHA:158000
Kapur-Toriello Syndrome	Iris coloboma, Cataract, Retinal coloboma	OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Retinal dystrophy, Cataract	OMIM:616538
Liddle Syndrome 3	Hypokalemia	OMIM:618126
Cataract 39, Multiple Types	Anterior polar cataract, Lamellar cataract, Developmental cataract	OMIM:615188
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Increased body weight	ORPHA:276608
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia...	OMIM:236670
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Abnormal lens morphology, Optic atrophy	ORPHA:363417
Albinism, Ocular, Type I	Giant melanosomes in melanocytes, Ocular albinism	OMIM:300500
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Knobloch Syndrome	Macular degeneration, Vitreoretinopathy, Ectopia lentis, Cataract, Retinal detachment, Abnormal v...	ORPHA:1571
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Optic atrophy, Astigmatism, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop...	ORPHA:320406
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phenomenon, Abnormal ret...	ORPHA:247691
Nail-Patella Syndrome	Lester's sign, High anterior hairline, Abnormal iris pigmentation, Primary congenital glaucoma, A...	ORPHA:2614
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea	ORPHA:284160
Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive...	ORPHA:398073
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Obesity, Dystonia, Hy...	OMIM:616267
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Failure to thrive, Hyperkalemia, Hyperpigmentation of the skin	ORPHA:90790
Opticocochleodentate Degeneration	Optic atrophy	OMIM:258700
Hermansky-Pudlak Syndrome 7	Albinism, Impaired platelet aggregation, Ocular albinism	OMIM:614076
Werner Syndrome	Retinal degeneration, Cataract	OMIM:277700
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Peters anomal...	OMIM:614643
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp...	ORPHA:177907
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Astigmatism, Optic atrophy	ORPHA:480898
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul...	OMIM:241150
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Trichorrhexis nodosa, Brittle hair, Developmental cataract, Failure to thrive...	OMIM:616395
Acrodysostosis With Multiple Hormone Resistance	Hyperphosphatemia, Fair hair, Blue irides, Red hair, Hypocalcemia, Obesity	ORPHA:280651
Cataract 30, Multiple Types	Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract	OMIM:116300
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness, Abnormal optic disc morphology, Congenital stationary night blindness	ORPHA:293967
Phace Syndrome	Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Iris coloboma, Heterochromi...	ORPHA:42775
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit...	OMIM:601859
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Decreased circulating complement C3 concentration, Incre...	ORPHA:449395
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Kenny-Caffey Syndrome, Type 2	Developmental cataract, Papilledema, Retinal calcification	OMIM:127000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased circulating free fatty acid level, Large for gestational age, Truncal obesity	ORPHA:293964
Mirage Syndrome	Decreased body weight, Hyperkalemia, Hyponatremia	OMIM:617053
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida, Intrauterine growth retardation, Short stature	ORPHA:1327
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Megalocornea-Mental Retardation Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis	OMIM:249310
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Bardet-Biedl Syndrome 20	Rod-cone dystrophy, Papilledema, Astigmatism, Retinal vascular tortuosity	OMIM:619471
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Optic atrophy	ORPHA:543470
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Hypokalemia	OMIM:602722
Addison Disease	Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Increased circulating renin level...	ORPHA:85138
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Baraitser-Winter Cerebrofrontofacial Syndrome	Microcornea, Failure to thrive, Iris coloboma, Heterochromia iridis, Low posterior hairline, High...	ORPHA:2995
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Spotty hypopigmentation, Synophrys, Hirsutism, Abnormal hair whorl, Low posterior hairline, Nail ...	OMIM:300860
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Optic atrophy	OMIM:201180
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Hyperkalemia, Nuclear cataract, Conjugated hyperbilirubinemia	OMIM:608885
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Pterygium, Hypertension, Iris coloboma, Atrioventricular block, Papilledema	ORPHA:371428
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Mevalonic Aciduria	Cataract, Optic disc pallor, Nuclear cataract, Attenuation of retinal blood vessels	OMIM:610377
Congenital Hypothyroidism	Hypotension, Optic atrophy, Hypertension, Cataract, Arrhythmia	ORPHA:442
Bardet-Biedl Syndrome 3	Obesity, Pigmentary retinopathy	OMIM:600151
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Megalocornea, Right bundle branch block, Optic atrophy, Wolff-Parki...	ORPHA:137675
3Q29 Microduplication Syndrome	Iris coloboma, Sclerocornea, Aniridia, Cataract	ORPHA:251038
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tremor, Iris atrophy	OMIM:146500
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight	OMIM:614450
Oculodentodigital Dysplasia	Optic atrophy, Microcornea, Cataract, Arrhythmia, Abnormality iris morphology	ORPHA:2710
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia	OMIM:266270
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Crouzon Syndrome	Conjunctivitis, Keratitis, Optic atrophy	OMIM:123500
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Absent anterior chamber of the eye, Exudative retinopathy, Vitreoretinopat...	OMIM:259770
Cataract 31, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract	OMIM:605387
Wiskott-Aldrich Syndrome	Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens...	OMIM:301000
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar...	OMIM:309801
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Vici Syndrome	Hypopigmentation of the skin, Decreased T cell activation, Ocular albinism, Albinism, Decreased c...	OMIM:242840
Incontinentia Pigmenti	Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Uveitis, Hypoplasia of the fov...	OMIM:308300
Xfe Progeroid Syndrome	Corneal scarring, Attenuation of retinal blood vessels, Hypertension, Optic atrophy	OMIM:610965
Mitochondrial Complex I Deficiency, Nuclear Type 27	Optic atrophy	OMIM:618248
Hermansky-Pudlak Syndrome 6	Albinism, Hypopigmentation of the skin, Impaired ADP-induced platelet aggregation, Ocular albinism	OMIM:614075
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Keratoconjunctivitis, Iridocyclitis, Cataract, Perifoveal ring of hyperautofluorescence, Pigmenta...	OMIM:240300
Cockayne Syndrome Type 1	Conjunctivitis, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem audit...	ORPHA:90321
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
Hyperoxaluria, Primary, Type I	Retinopathy, Optic atrophy, Arterial occlusion, Intermittent claudication, Choroidal neovasculari...	OMIM:259900
Leishmaniasis	Increased circulating antibody level, Weight loss, Hypoalbuminemia	ORPHA:507
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Liddle Syndrome	Hypokalemia	ORPHA:526
Acro-Renal-Ocular Syndrome	Coloboma, Aganglionic megacolon, Optic disc hypoplasia, Microcornea, Iris coloboma, Cataract, Cho...	ORPHA:959
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Subacute Inflammatory Demyelinating Polyneuropathy	Tremor, Choreoathetosis, Increased circulating IgG level	ORPHA:206594
Cataract 15, Multiple Types	Cortical cataract, Lamellar cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Cortical cataract, Lamellar cataract, Nuclear cataract	OMIM:611391
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Tremor	ORPHA:99965
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Oculocutaneous Albinism Type 5	Ocular albinism	ORPHA:370091
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos...	OMIM:203300
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Head tremor, Optic atrophy	ORPHA:95433
Weill-Marchesani Syndrome 2	Lens luxation, Congestive heart failure, Ectopia lentis, Astigmatism, Shallow anterior chamber, C...	OMIM:608328
Triploidy	Meningocele, Holoprosencephaly, Hydrocephalus, Intrauterine growth retardation	ORPHA:3376
Hermansky-Pudlak Syndrome 4	Albinism, Ocular albinism	OMIM:614073
Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hypophosphatemi...	ORPHA:263455
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Obesity, Hyperlipidemia	OMIM:617885
Cystinosis	Failure to thrive, Hypophosphatemia, Corneal opacity, Hypokalemia	ORPHA:213
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degener...	OMIM:253280
Cerebrocostomandibular Syndrome	Meningocele, Myelomeningocele, Short stature, Spina bifida, Hydranencephaly, Intrauterine growth ...	ORPHA:1393
Neurofibromatosis Type 1	Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin patches, Abnormality of reti...	ORPHA:636
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Decreased lymphocyte apoptosis	OMIM:614470
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Halperin-Birk Syndrome	Developmental cataract, Optic atrophy	OMIM:618651
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Short stature, Spina bifida occulta, Intrauterine growth retardation, Umbilical hernia	ORPHA:2311
Multiple Myeloma	Weight loss, Decreased circulating antibody level, Increased circulating IgA level, Tall stature,...	ORPHA:29073
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgG4 level, Increased circulating IgE level, Elevated circulatin...	ORPHA:449563
Abcd Syndrome	Albinism, White eyelashes, White eyebrow, Large for gestational age	OMIM:600501
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Generalized bronze hyperpigmentation, Abnormal circulating cholesterol concentration, Hyperkalemi...	ORPHA:168558
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Intention tremor, Optic atrophy, Vestibular areflexia	ORPHA:504476
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Optic disc pallor, Craniofacial dystonia, Athetosis, Dystonia, Pigm...	OMIM:617282
Cockayne Syndrome Type 3	Retinal hemorrhage, Abnormality of peripheral nerve conduction, Lentiglobus, Retinal atrophy, Ret...	ORPHA:90324
Superficial Siderosis	Abnormality of the brachial nerve plexus, Internal hemorrhage, Anisocoria, Subarachnoid hemorrhag...	ORPHA:247245
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Large for gestational age, Overgrowth, Coarse hair, Obesity	OMIM:605309
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Generalized bronze hyperpigmentation, Abnormal circulating cholesterol concentration, Hyperkalemi...	ORPHA:289548
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Blau Syndrome	Pulmonary arterial hypertension, Retinopathy, Abnormal choroid morphology, Iridocyclitis, Facial ...	ORPHA:90340
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Supernumerary nipple, Tall stature	ORPHA:373
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hypokalemia	OMIM:611590
Lysosomal Acid Lipase Deficiency	Weight loss, Cachexia, Hyperkalemia, Failure to thrive, Hypercholesterolemia, Hyponatremia, Hyper...	ORPHA:275761
Nail-Patella Syndrome	Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia	OMIM:161200
Fabry Disease	Mucosal telangiectasiae, Optic atrophy, Transient ischemic attack, Bundle branch block, Telangiec...	ORPHA:324
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Increased circulating IgG level	OMIM:618495
Combined Oxidative Phosphorylation Deficiency 29	Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy, Dystonia	OMIM:616811
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, Torticollis, White eyebrow, Hypopigmented skin patches, White forelock, Heteroch...	OMIM:609136
De Sanctis-Cacchione Syndrome	Conjunctivitis, Telangiectasia, Optic atrophy, Choreoathetosis, Keratitis, Axonal degeneration	OMIM:278800
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Congestive heart failure, Developmental cataract, Hypertension, Iri...	OMIM:181270
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:214700
Neuroocular Syndrome	Brushfield spots, Brittle hair, Synophrys, Long eyelashes, Lens coloboma, Microcornea, Iris colob...	OMIM:619539
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Elevat...	OMIM:618620
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Increased body weight	OMIM:182290
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Increased circulating IgA level, Sparse hair, Elevated circulating C-reactive ...	OMIM:615934
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:423
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Weight loss, Elevated circulating alpha-fetoprotein c...	ORPHA:90003
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Obesity, Abdominal obesity, Hirsutism	OMIM:219090
Hermansky-Pudlak Syndrome 10	Albinism, Dystonia, Ocular albinism	OMIM:617050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased lymphocyte proliferation in response to mitogen, Abnormal immunoglobulin level, Failure...	ORPHA:276
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Aortic regurgitation, Abno...	ORPHA:91387
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Autosomal Dominant Kenny-Caffey Syndrome	Developmental cataract, Papilledema, Retinal calcification	ORPHA:93325
Czeizel-Losonci Syndrome	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida	ORPHA:2437
Gapo Syndrome	Megalocornea, Optic atrophy, Retinal arteriolar tortuosity, Shallow anterior chamber, Keratoconus...	OMIM:230740
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Alopecia, Abnormal circulating lipid con...	ORPHA:2298
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,...	OMIM:604292
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Failure to thrive in infancy, Increased ci...	OMIM:617099
East Syndrome	Increased circulating renin level, Hypokalemia, Hypomagnesemia, Action tremor	ORPHA:199343
Prolidase Deficiency	Increased circulating antibody level, Failure to thrive, Facial hirsutism, Low posterior hairline	OMIM:170100
Fanconi-Bickel Syndrome	Failure to thrive, Hypophosphatemia, Hypouricemia, Hypokalemia	OMIM:227810
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hyperbilirubinemia, Obesity	OMIM:609734
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Fountain Syndrome	Spina bifida occulta, Short stature, Spina bifida	ORPHA:3219
Tularemia	Increased circulating antibody level, Conjunctival hyperemia, Conjunctivitis	ORPHA:3392
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell activity, Ocular albinism, Fair hair, Albinism, Generalized hypopigme...	OMIM:608233
Microphthalmia, Syndromic 3	Coloboma, Optic nerve aplasia, Optic nerve hypoplasia, Cataract, Sclerocornea	OMIM:206900
Cockayne Syndrome	Optic atrophy, Retinal atrophy, Keratoconjunctivitis sicca, Action tremor, Band keratopathy, Mios...	ORPHA:191
Colchicine Poisoning	Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc...	ORPHA:31824
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia	OMIM:618114
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Lentiglobus, Buphthalmos, Cataract, Corneal opacity, Chorioretinal dys...	ORPHA:534
Bardet-Biedl Syndrome 6	Obesity, Pigmentary retinopathy	OMIM:605231
Jacobsen Syndrome	Optic atrophy, Macular hypoplasia, Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:147791
Neurocardiofaciodigital Syndrome	Cataract, Optic disc pallor, Sclerocornea	OMIM:619869
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl...	ORPHA:2526
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Hypertension, Optic atrophy	OMIM:617913
Joubert Syndrome 14	Meningocele, Hydrocephalus, Encephalocele, Growth delay	OMIM:614424
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight	OMIM:274300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los...	OMIM:616959
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Pulmonic stenosis, Ectopia pupillae	OMIM:618223
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic neuropathy, Choreoathetosis, Optic atrophy, Optic disc pallor	OMIM:618249
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat...	ORPHA:163746
Pelvis-Shoulder Dysplasia	Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly...	ORPHA:2839
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Primary Hyperoxaluria	Retinopathy, Optic atrophy, Arterial occlusion, Intermittent claudication, Choroidal neovasculari...	ORPHA:416
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Long eyelashes, Hirsutism, Bone marrow hypocellularity, Increased circulating IgM leve...	OMIM:617303
Xeroderma Pigmentosum	Telangiectasia, Optic atrophy, Pterygium, Cataract, Conjunctival telangiectasia, Telangiectasia o...	ORPHA:910
Cockayne Syndrome B	Optic atrophy, Abnormal peripheral myelination, Hypoplasia of the iris, Abnormal auditory evoked ...	OMIM:133540
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Decreased body weight, Increased circulating interleukin 6 concentration, Hype...	ORPHA:340
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Hyperpigmentation of the skin	ORPHA:48377
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,...	OMIM:129900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit...	OMIM:603909
Schnitzler Syndrome	Increased circulating IgM level	ORPHA:37748
Infantile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal blood ion concentration, Failure to thr...	ORPHA:411629
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc...	ORPHA:63259
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Meckel Syndrome	Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, Microcornea, Ca...	ORPHA:564
Adrenocortical Carcinoma	Hypokalemia, Hypertrichosis, Weight loss, Increased body weight	ORPHA:1501
Papilloma Of Choroid Plexus	Papilledema	OMIM:260500
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Hyperkalem...	ORPHA:544482
Neonatal Marfan Syndrome	Megalocornea, Heart murmur, Ectopia lentis, Mitral regurgitation, Iridodonesis, Tricuspid regurgi...	ORPHA:284979
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati...	OMIM:261740
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Punctate cataract, Optic atrophy	OMIM:607812
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Hyperkalemia, Failure to thrive, Frontal balding, Hirsutism, Hypochloremia, Tall sta...	ORPHA:90794
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism, Increased body weight	OMIM:615830
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thrive, Abnormal...	ORPHA:411634
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Short stature	ORPHA:2031
Wilson Disease	Failure to thrive, Kayser-Fleischer ring, Weight loss, Increased body weight	ORPHA:905
Proboscis Lateralis	Microcornea, Optic nerve hypoplasia, Iris coloboma, Cataract, Corneal opacity, Chorioretinal colo...	ORPHA:141099
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity, Aniridia	OMIM:194072
Monosomy 13Q14	Retinoblastoma, Iris coloboma, Cataract	ORPHA:1587
Mercury Poisoning	Hypokalemia, Tremor, Dystonia	ORPHA:330021
Cockayne Syndrome A	Optic atrophy, Abnormal peripheral myelination, Retinal atrophy, Abnormal auditory evoked potenti...	OMIM:216400
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Leptospirosis	Hypotension, Retinal hemorrhage, Chorioretinitis, Conjunctival hyperemia, Pulmonary hemorrhage, S...	ORPHA:509
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Weight loss, Monoclonal elevation of IgG, Paraproteinemi...	ORPHA:91139
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Von Hippel-Lindau Disease	Adrenal pheochromocytoma, Myocarditis, Macular edema, Pancreatic endocrine tumor, Retinal capilla...	ORPHA:892
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Heart murmur	OMIM:618653
Williams Syndrome	Abnormal circulating lipid concentration, Megalocornea, Posterior embryotoxon, Aplasia/Hypoplasia...	ORPHA:904
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:613090
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
Aicardi Syndrome	Optic atrophy, Cataract, Retinal detachment, Optic disc coloboma, Chorioretinal lacunae	OMIM:304050
Mowat-Wilson Syndrome	Aganglionic megacolon, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupi...	OMIM:235730
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight	OMIM:615954
Autoimmune Hepatitis	Increased circulating antibody level, Vitiligo, Increased circulating IgG level, Increased total ...	ORPHA:2137
Insulinoma	Tremor, Increased body weight	ORPHA:97279
Mucopolysaccharidosis Type 2	Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Hypertension, Abnor...	ORPHA:580
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Coloboma, Facial palsy, Abnormal optic disc morphology, Optic nerve hypoplasia, Aortic regurgitat...	ORPHA:508498
Viss Syndrome	Alopecia, Sparse scalp hair, Increased circulating IgE level, Failure to thrive, Hirsutism, Decre...	OMIM:619472
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Neu-Laxova Syndrome 2	Spina bifida, Intrauterine growth retardation	OMIM:616038
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Failure to thrive, Hypertriglyceridemia, Conjunctivitis	OMIM:617591
Trisomy 8P	Astigmatism, Heterochromia iridis, Low posterior hairline	ORPHA:264450
Japanese Encephalitis	Increased circulating antibody level, Choreoathetosis, Tremor, Increased circulating IgM level, H...	ORPHA:79139
Arnold-Chiari Malformation Type Ii	Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis	ORPHA:1136
Xq21 Microdeletion Syndrome	Optic atrophy, Choroideremia, Abnormal chorioretinal morphology, Hypertension, Chorioretinal dege...	ORPHA:1435
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Failure to thrive, Hypokalemia	ORPHA:320
Vacterl With Hydrocephalus	Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation	ORPHA:3412
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level	ORPHA:69126
Stankiewicz-Isidor Syndrome	Abnormal optic disc morphology	OMIM:617516
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgA level, Increased circulating IgM level, Decreased circulating IgG level	OMIM:616005
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Hypopigmentation of the skin, Weight loss, Retinal pigment epithelia...	OMIM:219800
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Obesity, Hyperkalemia, Hyperlipidemia, Hyponatremia	ORPHA:293987
Poems Syndrome	Leukonychia, Weight loss, Increased circulating antibody level, Hyperpigmentation of the skin, Hy...	ORPHA:2905
Pneumocystosis	Increased circulating antibody level, Weight loss	ORPHA:723
Alzahrani-Kuwahara Syndrome	Astigmatism, Cataract, Optic disc pallor	OMIM:619268
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei...	OMIM:613095
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Athetosis	ORPHA:369929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Hypokalemia, Athetosis	OMIM:615474
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Primary Pigmented Nodular Adrenocortical Disease	Alopecia, Spotty hyperpigmentation, Hirsutism, Hyperlipidemia, Abdominal obesity, Increased body ...	ORPHA:189439
Frontofacionasal Dysplasia	Iris coloboma, Cataract, Microcornea	OMIM:229400
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Lysinuric Protein Intolerance	Hyperalaninemia, Hyperglycinemia, Decreased circulating antibody level, Increased circulating ant...	ORPHA:470
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Alopecia, Hirsutism, Hyperlipidemia, Abdominal obesity, Increased body weight	ORPHA:189427
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia	OMIM:613677
Lateral Meningocele Syndrome	Meningocele, Short stature, Hydrocephalus, Umbilical hernia	OMIM:130720
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism	ORPHA:1352
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Proteus Syndrome	Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Central heteroc...	ORPHA:744
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Premature graying of hair, Blue irides, Hypercalcemia, Obesity, Fa...	OMIM:194050
Proteasome-Associated Autoinflammatory Syndrome 1	Conjunctivitis, Increased circulating interleukin 6 concentration, Premature graying of hair, Inc...	OMIM:256040
Osteootohepatoenteric Syndrome	Failure to thrive, Hypokalemia, Increased serum bile acid concentration, Weight loss	OMIM:619377
Sotos Syndrome	Sparse eyebrow, High anterior hairline, Overgrowth, Tall stature, Increased body weight	OMIM:117550
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal choroid morphology	OMIM:607364
Trisomy 18	Short stature, Spina bifida, Anencephaly, Holoprosencephaly, Growth delay, Intrauterine growth re...	ORPHA:3380
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Increased circulating renin level, Hypokalemia, Hypomagnesemia, Intention tremor	OMIM:612780
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Increased circulating IgA level, Increased circulating ...	ORPHA:186
Cystic Echinococcosis	Increased circulating antibody level, Hyperbilirubinemia, Weight loss	ORPHA:400
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Conjunctivitis, Thick hair, Long eyelashes, Abnormality of retinal pigmentation, Bone marrow hypo...	ORPHA:505248
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating renin level, Hypokalemia, Hirsutism, Hyperpigmentation of the skin	ORPHA:90795
Down Syndrome	Brushfield spots	OMIM:190685
Cholera	Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:173
Lateral Meningocele Syndrome	Meningocele, Umbilical hernia	ORPHA:2789
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Astigmatism, Abnormal optic disc morphology	ORPHA:96121
Pearson Syndrome	Hyperalaninemia, Cafe-au-lait spot, Small for gestational age, Hypophosphatemia, Hypokalemia, Cor...	ORPHA:699
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Optic atrophy, Aganglionic megacolon, Hyphema, Axenfeld anomaly, Micro...	ORPHA:261552
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia	ORPHA:231632
Lumbar Syndrome	Spina bifida, Myelomeningocele	ORPHA:83628
Al Amyloidosis	Increased circulating antibody level, Hypoalbuminemia, Weight loss, Increased circulating NT-proB...	ORPHA:85443
Encephalitis Lethargica	Increased circulating antibody level, Tremor	ORPHA:83600
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Abdominal obesity, Cho...	ORPHA:398069
Juvenile Polyposis Syndrome	Failure to thrive, Hypokalemia, Hypoalbuminemia	OMIM:174900
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Wolfram Syndrome 2	Optic neuropathy, Optic atrophy	OMIM:604928
Rabson-Mendenhall Syndrome	Increased C-peptide level, Premature graying of hair, Hypokalemia, Hirsutism, Hypertrichosis, Low...	ORPHA:769
X-Linked Lymphoproliferative Disease	Decreased circulating total IgM, Decreased circulating antibody level, Dysgammaglobulinemia, Incr...	ORPHA:2442
Mosaic Trisomy 9	Spina bifida, Intrauterine growth retardation	ORPHA:99776
Bartter Syndrome Type 4	Small for gestational age, Hypokalemia, Increased circulating renin level, Failure to thrive, Hyp...	ORPHA:89938
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Lassa Fever	Conjunctivitis, Increased circulating IgM level	ORPHA:99824
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia	ORPHA:231580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype...	ORPHA:264580
Lathosterolosis	Meningocele, Intrauterine growth retardation	ORPHA:46059
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r...	OMIM:601678
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Occipital encep...	ORPHA:397715
Selective Igm Deficiency	Decreased circulating total IgM, Paraproteinemia, Decreased circulating IgA level, Keratitis, Dec...	ORPHA:331235
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia, Failure to thrive, Absent pubic hair, Absent axil...	ORPHA:90793
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Gitelman Syndrome	Failure to thrive, Hypokalemia, Hypomagnesemia, Increased circulating renin level	OMIM:263800
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Paraproteinemia, Hyperlipidemia	ORPHA:439232
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia, I...	ORPHA:79240
Scleromyxedema	Paraproteinemia, Elevated circulating creatine kinase concentration	ORPHA:167635
Neu-Laxova Syndrome	Spina bifida, Intrauterine growth retardation	ORPHA:2671
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia	ORPHA:231625
Wolf-Hirschhorn Syndrome	Iris coloboma, Rieger anomaly, Ectopia pupillae	OMIM:194190
Phocomelia, Schinzel Type	Meningocele, Disproportionate short stature, Intrauterine growth retardation	ORPHA:2879
Pagod Syndrome	Meningocele, Short stature, Encephalocele, Spina bifida	ORPHA:991
Postinfectious Vasculitis	Weight loss, Increased circulating antibody level, Elevated haptoglobin level, Cryoglobulinemia, ...	ORPHA:48435
Primary Fanconi Renotubular Syndrome	Weight loss, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosphatemic rickets,...	ORPHA:3337
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ...	ORPHA:2369
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r...	OMIM:241200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:602522
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Tick-Borne Encephalitis	Abnormality of serum cytokine level, Tremor, Elevated circulating C-reactive protein concentratio...	ORPHA:297
Cloacal Exstrophy	Spina bifida, Myelomeningocele	ORPHA:93929
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Dysfunctional alternative complement pathway, Hypon...	ORPHA:90038
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Hepatocellular Carcinoma	Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia	ORPHA:88673
Witteveen-Kolk Syndrome	Anisocoria, Iris coloboma, Intracranial hemorrhage, Cataract	OMIM:613406
1P36 Deletion Syndrome	Horizontal eyebrow, Abnormal eyebrow morphology, Ocular albinism, Failure to thrive, Cataract, Ob...	ORPHA:1606
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small for gestational age, Decreased circulating renin level, Hyperkalemia, Hyponatremia	OMIM:201750
Fibular Hemimelia	Spina bifida	ORPHA:93323
Focal Dermal Hypoplasia	Spina bifida, Umbilical hernia	ORPHA:2092
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Increased circulating ferritin concentration, Dystonia, Wei...	OMIM:615846
Marburg Hemorrhagic Fever	Increased circulating antibody level, Hypokalemia, Uveitis, Elevated circulating creatine kinase ...	ORPHA:99826
Sarcoidosis, Susceptibility To, 1	Chorioretinitis, Weight loss, Iridocyclitis, Increased circulating antibody level, Abnormality of...	OMIM:181000
Rift Valley Fever	Uveitis, Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Hallermann-Streiff Syndrome	Spina bifida, Proportionate short stature	OMIM:234100
Orofaciodigital Syndrome Vi	Arrhinencephaly, Occipital meningocele, Short stature	OMIM:277170
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Brucellosis	Chorioretinitis, Weight loss, Small for gestational age, Failure to thrive, Elevated circulating ...	ORPHA:1304
Q Fever	Increased circulating antibody level, Cryoglobulinemia, Weight loss	ORPHA:781
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Proximal Renal Tubular Acidosis	Hypokalemia, Failure to thrive, Cataract, Band keratopathy, Bicarbonaturia	ORPHA:47159
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Neurofibromatosis, Type I	Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature	OMIM:162200
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Transient ischemic attack, Hypertension, Internal hemorrhage, Renovasc...	ORPHA:286
Jacobsen Syndrome	Spina bifida, Growth delay, Intrauterine growth retardation, Short stature	ORPHA:2308
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Failure to thrive, Hypokalemia, Hyponatremia	OMIM:618426
Immunodeficiency 87 And Autoimmunity	Small for gestational age, Hypokalemia, Abnormal lymphocyte proliferation, Elevated circulating C...	OMIM:619573
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Basal Cell Nevus Syndrome 1	Spina bifida, Hydrocephalus	OMIM:109400
Cysticercosis	Increased circulating antibody level, Chorioretinitis, Iridocyclitis	ORPHA:1560
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Abnormal hair quantity, Tremor, Weight loss	ORPHA:91347
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Weight loss, Keratoconjunctivitis sicca, Increased circulating ...	ORPHA:79078
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hyperpigmentation of the skin, Hypokalemia	OMIM:202010
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Neonatal death, ...	OMIM:256520
Alveolar Echinococcosis	Increased circulating antibody level, Weight loss	ORPHA:284
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Frontal balding, Hirsutism	ORPHA:786
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Decreased circulating antibody level, Increase...	ORPHA:289390
Leprechaunism	Decreased body weight, Hypokalemia, Increased circulating renin level, Failure to thrive, Facial ...	ORPHA:508
Fanconi Anemia	Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Umbili...	ORPHA:84
Gaucher Disease	Abnormality of skin pigmentation, Increased circulating antibody level, Tremor, Elevated circulat...	ORPHA:355
Vipoma	Hypokalemia, Hypercalcemia, Weight loss	ORPHA:97282
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho...	OMIM:610828
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Failure to thrive, Hypocalcemia, Hypomagnesemia	ORPHA:358
Split Cord Malformation	Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele	ORPHA:573278
Hyper-Igd Syndrome	Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Cushing Disease	Sparse scalp hair, Hirsutism, Truncal obesity, Hyperpigmentation of the skin, Abdominal obesity, ...	ORPHA:96253
Campomelic Dysplasia	Spinal dysraphism, Spina bifida, Hydrocephalus, Disproportionate short-limb short stature, Neonat...	OMIM:114290
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Distal Renal Tubular Acidosis	Failure to thrive, Hypokalemia	ORPHA:18
Thrombocytopenia-Absent Radius Syndrome	Spina bifida, Short stature	OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Hydrocephalus, Postnatal growth retardation	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Hydrocephalus, Postnatal growth retardation	ORPHA:363958
Primary Sclerosing Cholangitis	Uveitis, Polyclonal elevation of IgM, Weight loss, Hypoalbuminemia	ORPHA:171
Nelson Syndrome	Hypokalemia, Generalized hyperpigmentation	ORPHA:199244
Vater/Vacterl Association	Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine growth retardation, Postnatal...	OMIM:192350
Rubinstein-Taybi Syndrome 1	Short stature, Spina bifida, Spina bifida occulta, Growth delay, Postnatal growth retardation	OMIM:180849
Arima Syndrome	Occipital meningocele, Growth delay	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
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Postnatal growth retard...	OMIM:304120
Marfan Syndrome	Meningocele	ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida	OMIM:619480
Crimean-Congo Hemorrhagic Fever	Conjunctivitis, Increased circulating IgG level, Increased circulating IgM level, Elevated circul...	ORPHA:99827
Yellow Fever	Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Elevated circulating creat...	ORPHA:99829
Carney Complex	Ductal carcinoma in situ, Spotty hyperpigmentation, Multiple lentigines, Hirsutism, Multiple cafe...	ORPHA:1359
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Weight loss, Hirsutism, Truncal obesity, Hyperpigmentation of the skin, Abdomi...	ORPHA:99889
Exstrophy-Epispadias Complex	Spina bifida, Hydrocephalus	ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Disproportionate short stature, Occipital meningocele	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

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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

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Gene: Kdm8 MGI:1924285

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

OPT E9.5

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Adult LacZ

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Embryo LacZ

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Auditory Brain Stem Response

Human diseases caused by Kdm8 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data