Gene Summary

nuclear receptor coactivator 6
PRIP,  ASC2,  NRC,  AIB3,  RAP250,  ASC-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ncoa6em1(IMPC)J HOM   Early adult 0.00
abnormal retina morphology Ncoa6em1(IMPC)J HET Early adult 1.49×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Forepaw

9 Images

Eye Morphology

Images Ophthalmoscopy

26 Images

Sleep Wake

Wake state (bmp file)

5 Images


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Skull Lateral Orientation

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

9 Images

Auditory Brain Stem Response

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

7 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Ncoa6 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ncoa6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 44
Developmental cataract OMIM:616509
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Aniridia 3
Cataract OMIM:617142
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Elevated ... OMIM:232700
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Cataract OMIM:190330
Cataract 7
Developmental cataract OMIM:115660
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation OMIM:157150
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye,... ORPHA:83461
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Galactosemia Iv
Cataract OMIM:618881
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Nathalie Syndrome
Cataract ORPHA:2663
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Retinal Detachment
Retinal detachment OMIM:180050
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
Cataract 42
Developmental cataract OMIM:115900
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Aniridia 2
Cataract, Aniridia OMIM:617141
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Galactosemia Ii
Cataract OMIM:230200
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
X-Linked Retinoschisis
Cataract ORPHA:792
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, H... OMIM:605814
Cataract 47
Microcornea, Cataract OMIM:612018
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Decreased ... OMIM:616828
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Proximal Myotonic Myopathy
Cataract ORPHA:606
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Vomiting OMIM:615863
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Nathalie Syndrome
Cataract OMIM:255990
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Macular Degeneration, Age-Related, 1
Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularization, Macular degeneration, ... OMIM:603075
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Dermoids Of Cornea
Corneal opacity OMIM:304730
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Hypercholesterolemia OMIM:301033
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Cerulean cataract, Macular hypoplasia, Iris coloboma OMIM:610202
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Diarrhea, Decreased HDL cholesterol concentration, Periportal fib... OMIM:278000
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Oligodactyly, Humeroradial synostosis OMIM:614416
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Dysequilibrium Syndrome
Cataract ORPHA:1766
Hyperlipoproteinemia, Type I
Nausea, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hype... OMIM:238600
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Retinitis Pigmentosa 84
Cataract OMIM:618220
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Intrauterine growth retardation, Atrial septal defect, Clinodactyly ... ORPHA:521308
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Coloboma Of Macula
Macular coloboma OMIM:120300
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Abnormality of thalamus morphology, Abnormal motor neuron morph... OMIM:613724
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Hypothalamic hamartoma, Diffuse... OMIM:619291
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia... ORPHA:93323
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyop... OMIM:115197
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Hepatomegaly, Vomiting OMIM:605911
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Retinitis Pigmentosa 40
Cataract OMIM:613801
Pellagra-Like Syndrome
Cataract OMIM:260650
Exudative Vitreoretinopathy 6
Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detach... OMIM:616468
Pericardial effusion, Ascites OMIM:256150
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical atrophy, Art... OMIM:619072
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Elevated hep... OMIM:214900
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Spondylo-Ocular Syndrome
Microphthalmia, Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormality of the ulna, Abnormal metacarpal morphology, Hand oli... ORPHA:3104
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Dilated third ventricle, Leukoencephalopathy, Micr... OMIM:619244
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Limb hypertonia, Partial agenesis of the corpus callos... OMIM:617296
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Bicuspid aortic valve, Cardiomegaly, Umbili... OMIM:239850
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification, Hypomimic face OMIM:618824
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Pallor, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:90039
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
16P13.2 Microdeletion Syndrome
Hydrocephalus, Flexion contracture, Dilated third ventricle, Cerebral white matter atrophy, Ventr... ORPHA:500055
Retinohepatoendocrinologic Syndrome
Pallor, Abnormality of skin pigmentation, Degenerative liver disease OMIM:268040
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Growth delay, Anemia, Short stature, ... OMIM:615631
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Poikilocytosis, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Decreased mean corpuscu... OMIM:615234
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Insulinomatosis And Diabetes Mellitus
Developmental cataract, Developmental glaucoma OMIM:147630
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Microcytic anemia, Cholelithiasis, Pallor, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegal... ORPHA:848
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Cataract 2, Multiple Types
Microcornea, Developmental cataract, Nuclear cataract OMIM:604307
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Vomiting, Splenomegaly, Hepatomegaly, Eleva... ORPHA:370
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Cataract 24
Anterior polar cataract OMIM:601202
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Growth delay, Pulmonic stenosis, Pul... ORPHA:2414
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormali... ORPHA:90064
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Congenital muscular dystrophy, Dilated fourth ventricle, Occipital e... ORPHA:370959
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Cataract ORPHA:2528
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocytosis, Persistence... ORPHA:231226
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, Triphalangeal thumb, Oligodact... OMIM:201170
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology OMIM:619725
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormality of masseter muscle, Mi... ORPHA:314621
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Intermittent diarrhea, Hepatosplenomegaly, Hypercholesterolemia, Fatal liver failure in infancy, ... ORPHA:263501
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Retinitis Pigmentosa 4
Cataract OMIM:613731
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Cholestasis, Hyperbilirubinemia, Diarrhea, Hyperammonemia, Decreased... ORPHA:247598
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor, Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Pericarditis... ORPHA:163596
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Anisopoikilocytosis, Persistence of hemoglob... ORPHA:231214
Isolated Split Hand-Split Foot Malformation
Split hand, Oligodactyly, Finger syndactyly, Absent hand ORPHA:2440
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Multiple joint contractures, Aplasia/Hypoplasia of the corpus ca... ORPHA:2570
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Occipital en... ORPHA:397715
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Cataract, Iris coloboma OMIM:212550
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated third ventricle, ... ORPHA:464738
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... ORPHA:3258
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Hepatomegaly, Increased level of gal... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tachycardia, Diffuse pa... ORPHA:276556
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tachycardia, Focal panc... ORPHA:276575
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Megaloblastic anemia, Short statu... ORPHA:49827
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Nausea, Cholestasis, Hypercholesterolemia, Vomiting, Splenomegaly, Hepatomegal... ORPHA:264580
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Agenesis of corpus callosum, Interhypothalamic Adhesion, Atrioventricular canal defect OMIM:618929
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Lower limb ... ORPHA:2822
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Nausea, Hypercholesterolemia, Vomiting, Splenomegaly, Hepatomegaly, Elevated circulating creatine... ORPHA:79240
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Hypertrig... ORPHA:412
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Palpitations, Syncope, Tachycardia, Diffuse pa... ORPHA:276580
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Morm Syndrome
Cataract ORPHA:75858
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Oligodactyly, Tarsal synostosis, Abnorm... ORPHA:1307
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Abnormal heart morphol... OMIM:241800
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jau... ORPHA:1414
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Splenomegaly, Elevated circulating sitosterol con... OMIM:210250
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Hereditary Spherocytosis
Cholelithiasis, Pallor, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundi... ORPHA:822
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypopituita... ORPHA:54595
Chromosome 6Q24-Q25 Deletion Syndrome
Long philtrum, Dysplastic tricuspid valve, Sandal gap, High, narrow palate, Small hand, Dysplasti... OMIM:612863
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Dilation of lateral ventricles, Ventricular septal defect, Hydrocephalus OMIM:619575
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinem... OMIM:235555
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Hypercholesterolemia, Hepatomegaly, Hypertriglyceri... ORPHA:528
Retinitis Pigmentosa 37
Cataract OMIM:611131
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Cataract OMIM:616171
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Retinitis Pigmentosa 9
Cataract OMIM:180104
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Abnormal basal ganglia MRI signal intensity, Right ventricular hyper... ORPHA:444013
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Gastrointestinal hemorrhage, Periportal ... ORPHA:64743
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Edema, Pericardial effusion, Ascites OMIM:608776
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Pallister-Hall Syndrome
Toe syndactyly, Intrauterine growth retardation, Patent ductus arteriosus, Postaxial foot polydac... OMIM:146510
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Microphthalmia, Opacification of the ... OMIM:310600
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion OMIM:619057
Premature Ovarian Failure 6
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612310
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycar... OMIM:618775
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia, Hyperpigmentation of the skin, Elevated hepatic transaminase, Pallor ORPHA:75563
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract ORPHA:2489
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Congestive h... ORPHA:75564
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Absent radius, Oligodactyly, Micromelia, Short tibia, Humeroradi... OMIM:251230
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Peritonitis, Abnormal circulating lipid concentration, Hypoalbuminemia, Hyp... ORPHA:567548
Aicardi Syndrome
Choroid plexus cyst, Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Partial agen... OMIM:304050
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Abnormal oral mucosa morphology, Spleno... ORPHA:507
Chylomicron Retention Disease
Vomiting, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemia, Diarrhea, Steatorrhea, Decre... OMIM:246700
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormality of the basal ganglia, Primary microcephaly, Hypoplasia... ORPHA:300570
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Knee ... ORPHA:166016
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Otodental Syndrome
Microcornea, Cataract, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the basal ganglia, Encephalomala... ORPHA:68
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Co... OMIM:615947
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Microgastria-Limb Reduction Defect Syndrome
Phocomelia, Atrial septal defect, Aplastic clavicle, Oligodactyly, Short thumb, Elbow dislocation... ORPHA:2538
Wagner Vitreoretinopathy
Cataract OMIM:143200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Pallor, Thrombocytopenia OMIM:613839
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Petechiae, Hepatosplenom... ORPHA:824
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Abnormal caudate nucleus morphology, Basal ganglia gliosis, Hypertrophic ... ORPHA:70474
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Splenomegaly, Hepatomegaly, Aganglionic megaco... ORPHA:3386
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Skin ulcer, Cholelithiasis, Pallor, Decreased liver function, Jaundi... ORPHA:231222
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy, Growth delay OMIM:500007
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Achromatopsia 3
Cataract OMIM:262300
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Short stature, Pallor ORPHA:2786
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Atrial septal defect, Cerebral white matter atrophy, Pulmonic stenosis, ... ORPHA:435638
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Abnormal heart morphology, Focal T2 hype... ORPHA:79264
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Iron deficiency anemia, Heart murm... ORPHA:99931
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Focal T2 hyperintense thalamic lesion OMIM:619046
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Pleural effusion, Hypotension, Polyhydramnios, Cardiomyopathy, Feta... ORPHA:292
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Pleural effusion, Lymphedema, Periorbita... OMIM:235510
Fanconi Anemia, Complementation Group I
Absent thumb, Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Short ... OMIM:609053
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, High palate, Sideroblastic anemia, Pappenheimer bodies, Ge... OMIM:600462
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Intrauterine growth retardation, Portal hypertension, Ascites, Lowe... OMIM:619487
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Hypoplasia of the radius, Hydrocephalus ORPHA:3016
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Small vessel vasculitis, Ascites, ... ORPHA:36412
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericardial effusion, Pericarditis ORPHA:231111
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Retinitis Pigmentosa 42
Pallor OMIM:612943
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Cahmr Syndrome
Lamellar cataract OMIM:211770
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Retinitis Pigmentosa 60
Pallor OMIM:613983