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Gene: Phactr4 MGI:2140327

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Gene Summary

Name:
phosphatase and actin regulator 4
Synonyms:
3110001B12Rik,  C330013F19Rik

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Phactr4em1(IMPC)Hmgu HOM   Early adult 1.79×10-08
abnormal QT variability Phactr4em1(IMPC)Hmgu HET Early adult 5.28×10-05

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Human diseases caused by Phactr4 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 Phactr4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Retinal dysplasia OMIM:615041
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Joubert Syndrome 15
Retinopathy, Coloboma, Retinal dystrophy, Exencephaly OMIM:614464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Coloboma ORPHA:324416
Nathalie Syndrome
Abnormal EKG OMIM:255990
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Spina bifida, Chorioretinal degeneration OMIM:311000
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Joubert Syndrome 16
Encephalocele, Coloboma, Retinal dystrophy OMIM:614465
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Numerous co... ORPHA:2481
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Hydrocephalus, Coloboma, Death in childhood OMIM:613153
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Death in infancy ORPHA:1466
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy... ORPHA:370959
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Wildervanck Syndrome
Meningocele, Pseudopapilledema ORPHA:3456
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Holoprosencephaly, Anterior encephalocele OMIM:601357
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Joubert Syndrome 14
Encephalocele, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Coloboma OMIM:614424
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:858
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Frontonasal Dysplasia 1
Cranium bifidum occultum, Coloboma, Anterior basal encephalocele OMIM:136760
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Hydrocephalus, Retinal degeneration OMIM:615249
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage OMIM:619040
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
2Q24 Microdeletion Syndrome
Coloboma ORPHA:1617
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Srd5A3-Cdg
Optic disc hypoplasia, Optic atrophy, Coloboma, Spotty hyperpigmentation, Rod-cone dystrophy ORPHA:324737
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Miscarriage, Retinal pigment epithelial mottling, Chorior... ORPHA:448237
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Verheij Syndrome
Branchial cyst, Coloboma, Optic nerve hypoplasia OMIM:615583
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Coloboma OMIM:216360
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation ORPHA:1496
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Joubert Syndrome 8
Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor OMIM:612291
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
15Q24 Microdeletion Syndrome
Coloboma, Myelomeningocele ORPHA:94065
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Meningoence... OMIM:236670
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Otodental Dysplasia
Coloboma OMIM:166750
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Coloboma, Optic atrophy OMIM:612379
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Meningocele, White hair, ... ORPHA:894
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Death in adolescence OMIM:619059
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Coloboma, Aniridia, Macular hypoplasia ORPHA:2334
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Ritscher-Schinzel Syndrome 1
Coloboma, Hydrocephalus OMIM:220210
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly OMIM:147250
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Amish Lethal Microcephaly
Death in infancy, Optic atrophy, Spina bifida ORPHA:99742
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Death in childhood OMIM:619517
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Joubert Syndrome 23
Coloboma OMIM:616490
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph... OMIM:609033
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Holoprosencephaly ORPHA:2163
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Coloboma ORPHA:329224
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida, Melanocytic nevus ORPHA:2874
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma ORPHA:2839
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Myelomeningocele, Blue irides, Pr... OMIM:193500
Marcus-Gunn Syndrome
Coloboma, Morning glory anomaly ORPHA:91412
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Vici Syndrome
Abnormality of retinal pigmentation, Death in infancy, Optic atrophy, Hypopigmentation of the ski... ORPHA:1493
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma OMIM:253250
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy ORPHA:585
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma OMIM:618659
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Cln3 Disease
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy ORPHA:228346
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in childhood, Pigmentary retinopathy, Death in adolescence, Mottled pigmentation of photoex... OMIM:560000
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly OMIM:603194
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Hydrocephalus, Optic atrophy, Retinal dysplasia OMIM:613154
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Melanocytic nevus ORPHA:1327
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Trisomy 18
Abnormality of retinal pigmentation, Spina bifida, Anencephaly, Holoprosencephaly, Cyclopia, Iris... ORPHA:3380
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Triploidy
Hydrocephalus, Meningocele, Iris coloboma, Holoprosencephaly ORPHA:3376
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Neurooculocardiogenitourinary Syndrome
Coloboma OMIM:618652
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect, Coloboma OMIM:617306
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Familial Multiple Lipomatosis
Chorioretinitis, Coloboma ORPHA:199276
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Hydrocephalus, Papilledema, Abnormality of retinal pigmentation OMIM:309900
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Pigmentary retinopathy OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Hydrocephalus, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dyspla... OMIM:253280
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma OMIM:167730
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida ORPHA:1120
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma ORPHA:2510
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Stevenson-Carey Syndrome
Coloboma OMIM:611961
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Branchio-Oculo-Facial Syndrome
Premature graying of hair, Coloboma, Iris coloboma ORPHA:1297
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly, Retinal coloboma OMIM:616546
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Death in childhood OMIM:214110
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Meningocele, Optic atrophy ORPHA:991
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ... ORPHA:193
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock, Miscarriage ORPHA:902
Knobloch Syndrome 1
Occipital encephalocele, Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Iris trans... OMIM:267750
2Q31.1 Microdeletion Syndrome
Coloboma, Optic disc coloboma, Iris coloboma ORPHA:251014
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:959
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Hypopigmentation of the skin OMIM:163200
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta ORPHA:2311
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Coloboma, Branchial anomaly ORPHA:453499
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Iris coloboma ORPHA:2789
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Death in early adulthood ORPHA:192
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy OMIM:222300
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal optic nerve morphology, Spina bifida ORPHA:3412
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Coloboma, Branchial anomaly, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Coloboma, Branchial anomaly, Abnormal optic nerve morphology, Optic nerve hypoplasia ORPHA:352665
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Retinal dystrophy, Subretinal deposits, Meningocele, Abnormal optic disc... ORPHA:397715
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pi... ORPHA:79282
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Acrocallosal Syndrome
Coloboma, Umbilical hernia, Optic atrophy, Hypopigmentation of the fundus OMIM:200990
Cree Mental Retardation Syndrome
Coloboma OMIM:606851
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy, Death in childhood OMIM:220110
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Bohring-Opitz Syndrome
Coloboma, Retinal atrophy, Optic atrophy ORPHA:97297
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Hydrocephalus, Cafe-au-lait spot, Prolonged G2 phase of cell cycle OMIM:227646
Focal Dermal Hypoplasia
Spina bifida, Abnormality of skin pigmentation, Chorioretinal coloboma, Umbilical hernia, Iris co... ORPHA:2092
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Spinal dysraphism ORPHA:175
Aicardi Syndrome
Retinal detachment, Spina bifida, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy OMIM:304050
Hallermann-Streiff Syndrome
Optic disc coloboma, Iris coloboma, Spina bifida, Chorioretinal coloboma OMIM:234100
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma ORPHA:2399
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Hydrocephalus, Iris coloboma OMIM:309801
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo... ORPHA:580
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Iris coloboma OMIM:601707
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy ORPHA:505248
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hydrocephalus, Hypopigmented ... ORPHA:636
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Melanocytic nevus, Abnormality of skin pigmentation, Coloboma, Chorioretinal colob... OMIM:619475
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Hydrocephalus OMIM:277400
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Hydrocephalus, V... ORPHA:2556
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma OMIM:617107
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Death in adolescence, P... OMIM:614866
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Fanconi Anemia, Complementation Group E
Cafe-au-lait spot, Prolonged G2 phase of cell cycle, Hyperpigmentation of the skin OMIM:600901
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Coloboma OMIM:206900
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Pigmentary retinopathy, Death in childhood OMIM:214100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cafe-au-lait spot, Prolonged G2 phase of cell cycle OMIM:227650
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Multiple cafe-au-lait spots, Coloboma, Optic atrophy OMIM:616975
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Arima Syndrome
Occipital meningocele, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma OMIM:243910
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Kabuki Syndrome
Coloboma, Hydrocephalus ORPHA:2322
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Mucopolysaccharidosis Type 3
Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Umbilical hernia, Rod-cone dystrophy, Retin... ORPHA:581
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Nail-Patella Syndrome
Spina bifida, Lester's sign OMIM:161200
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Rubinstein-Taybi Syndrome 1
Coloboma, Cafe-au-lait spot, Spina bifida occulta, Spina bifida OMIM:180849
Fanconi Anemia, Complementation Group C
Cafe-au-lait spot, Prolonged G2 phase of cell cycle, Hyperpigmentation of the skin OMIM:227645
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Diarrhea 10, Protein-Losing Enteropathy Type
Coloboma, Death in infancy OMIM:618183
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... OMIM:209900
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Cockayne Syndrome Type 1
Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule ORPHA:90321
Cockayne Syndrome A
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of skin pigmenta... OMIM:216400
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Umbi... ORPHA:217085
Basal Cell Nevus Syndrome 1
Hydrocephalus, Iris coloboma, Spina bifida OMIM:109400
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Umbi... ORPHA:217093
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension ORPHA:79443
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... ORPHA:191
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Cockayne Syndrome B
Optic atrophy, Abnormality of skin pigmentation, Pigmentary retinopathy, Normal pressure hydrocep... OMIM:133540
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Multipl... OMIM:162200
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Lathosterolosis
Meningocele ORPHA:46059
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Cardiomyopathy ORPHA:373
Fibular Hemimelia
Spina bifida ORPHA:93323
Melas
Pigmentary retinopathy, Optic atrophy, Vitiligo ORPHA:550
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Charge Syndrome
Coloboma, Retinal coloboma, Holoprosencephaly, Umbilical hernia, Iris coloboma OMIM:214800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation ORPHA:466768
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele, Coloboma, Stillbirth, Cafe-au-lait spot OMIM:268300
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbilical cord, Hydranencephaly OMIM:256520
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma OMIM:615877
Jacobsen Syndrome
Death in infancy, Iris coloboma, Spina bifida ORPHA:2308
Esophageal Atresia
Coloboma ORPHA:1199
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
22Q11.2 Deletion Syndrome
Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus, Meningocele, Optic atrophy, Hypopigme... ORPHA:567
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval ORPHA:86309
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy ORPHA:404454
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Spina bifida, Hydrocephalus, Optic atrophy, Cafe-au-lait spot, Hypopigmentation of the... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Spina bifida, Hydrocephalus, Optic atrophy, Cafe-au-lait spot, Hypopigmentation of the... ORPHA:363958
Marfan Syndrome
Retinal detachment, Meningocele ORPHA:558
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Coloboma, Retinopathy ORPHA:353281
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hyperp... ORPHA:573278
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Multiple Endocrine Neoplasia Type 1
Melena, Hypertension, Shortened QT interval, Hematemesis ORPHA:652
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Coloboma, Hydrocephalus, Neonatal death OMIM:619534
Renpenning Syndrome 1
Coloboma, Death in childhood OMIM:309500
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Neurodegeneration With Brain Iron Accumulation 1
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Hyperpigmentation of the skin OMIM:234200
Fanconi Anemia
Spina bifida, Hydrocephalus, Hypopigmented skin patches, Abnormality of skin pigmentation, Multip... ORPHA:84
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Spina bifida OMIM:274000
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Bosma Arhinia Microphthalmia Syndrome
Coloboma OMIM:603457
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... OMIM:219800
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... ORPHA:79474
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Hardikar Syndrome
Umbilical hernia, Pigmentary retinopathy OMIM:301068
Microphthalmia, Syndromic 6
Coloboma, Retinal dystrophy OMIM:607932
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin ORPHA:699
Proximal Renal Tubular Acidosis
Coloboma ORPHA:47159
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Coloboma ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Coloboma ORPHA:353277
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Hydrocephalus, Optic atrophy, Optic disc hypoplasia ORPHA:3455
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus OMIM:192350
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
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 Phactr4

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 Phactr4.

No publications found that use IMPC mice or data for Phactr4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Phactr4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Phactr4em1(IMPC)Hmgu Intra-exon deletion Mice
Phactr4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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