Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 6.23×10-05

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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 Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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 QT interval OMIM:611820
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Nathalie Syndrome
Abnormal EKG OMIM:255990
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Ophthalmoplegia, External, And Myopia
Spina bifida, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Hydrocephalus, Retinal dysplasia ORPHA:324416
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Retinal detachment, Hydrocephalus, Death in childhood OMIM:613153
Diprosopus
Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Macular atrophy OMIM:602499
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma, Umbilical hernia ORPHA:2196
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Neurocutaneous Melanocytosis
Meningocele, Abnormality of retinal pigmentation, Death in infancy, Chorioretinal coloboma, Gener... ORPHA:2481
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Coach Syndrome 2
Coloboma, Chorioretinal coloboma, Hydrocephalus OMIM:619111
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
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 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Congenital Disorder Of Glycosylation, Type Ii
Coloboma OMIM:607906
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Death in infancy ORPHA:1466
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Increased circulating troponin I concentration OMIM:619040
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Abruzzo-Erickson Syndrome
Coloboma, Chorioretinal coloboma, Iris coloboma ORPHA:921
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:858
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Hydrocephalus, Retinal degeneration OMIM:615249
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Joubert Syndrome 14
Coloboma, Hydrocephalus, Morning glory anomaly OMIM:614424
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Microphthalmia, Isolated 8
Coloboma, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida OMIM:600122
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Spotty hyperpigmentation, Coloboma ORPHA:324737
2Q24 Microdeletion Syndrome
Coloboma ORPHA:1617
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Le... ORPHA:52427
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma OMIM:610023
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Retinal detachment, Hydrocephalus, Coloboma ORPHA:370959
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Coloboma OMIM:601357
Leber Congenital Amaurosis 1
Fundus atrophy, Pigmentary retinopathy OMIM:204000
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Lens subluxation ORPHA:171844
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma OMIM:120433
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis ORPHA:1496
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Amish Lethal Microcephaly
Death in infancy, Optic atrophy, Spina bifida ORPHA:99742
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Otodental Dysplasia
Coloboma OMIM:166750
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Familial Hyperaldosteronism Type Iii
Hypertension, Epistaxis, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, White eyelashes, White forelock, Abnormal macular morphology... ORPHA:897
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e... OMIM:618173
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Microphthalmia, Syndromic 13
Coloboma OMIM:300915
Treacher Collins Syndrome 3
Coloboma OMIM:248390
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Death in adolescence, Pigmentary retinopathy OMIM:619059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Ritscher-Schinzel Syndrome 1
Coloboma, Hydrocephalus OMIM:220210
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Coloboma, Cyclopia OMIM:147250
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Abnormality of retinal pigmentation ORPHA:2163
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Treacher Collins Syndrome 2
Coloboma OMIM:613717
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Coloboma, Hypoplasia of the fovea ORPHA:2334
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal thinning, Colobom... ORPHA:85167
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Waardenburg Syndrome Type 1
Meningocele, Hypopigmented skin patches, White hair, White eyelashes, White forelock, Heterochrom... ORPHA:894
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:609033
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Joubert Syndrome 23
Coloboma OMIM:616490
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Death in childhood OMIM:619517
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma ORPHA:1104
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Death in infancy, Hypopigmentation of the ski... ORPHA:1493
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... ORPHA:5
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
15Q24 Microdeletion Syndrome
Coloboma, Myelomeningocele ORPHA:94065
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Pontocerebellar Hypoplasia, Type 11
Coloboma OMIM:617695
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:585
Marcus-Gunn Syndrome
Coloboma, Morning glory anomaly ORPHA:91412
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Bidirectional ventricular ectopy, Prolonged QT interval, Palpitations OMIM:170390
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... ORPHA:26793
Facial Clefting, Oblique, 1
Coloboma OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Hydrocephalus, Colo... OMIM:236670
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Coloboma OMIM:612379
Baraitser-Winter Syndrome 2
Coloboma OMIM:614583
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Myelomeningocele, Hypopigmentation of the fundus, White eyelashes,... OMIM:193500
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Coloboma, Umbilical hernia ORPHA:329224
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Frontonasal Dysplasia 1
Coloboma OMIM:136760
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mulibrey Nanism
Iris coloboma, Pigmentary retinopathy OMIM:253250
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Pelvis-Shoulder Dysplasia
Hydranencephaly, Retinal coloboma, Iris coloboma, Spina bifida, Hydrocephalus ORPHA:2839
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Pigmentary retinopathy ORPHA:79264
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma OMIM:618659
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele OMIM:207950
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma OMIM:619318
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma ORPHA:464288
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Hydrocephalus, Umbilical hernia OMIM:309900
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy OMIM:268100
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Trisomy 18
Abnormality of retinal pigmentation, Anencephaly, Holoprosencephaly, Iris coloboma, Spina bifida,... ORPHA:3380
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Verheij Syndrome
Coloboma OMIM:615583
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Melanocytic nevus ORPHA:1327
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure OMIM:229300
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis ORPHA:231111
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Coloboma OMIM:616789
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Hydrocephalus, ... OMIM:253280
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia OMIM:613327
Alg3-Cdg
Hypopigmentation of the skin, Neural tube defect ORPHA:79321
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Familial Multiple Lipomatosis
Coloboma, Chorioretinitis ORPHA:199276
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Optic nerve hypoplasia, Abnormality of the optic disc, Iris coloboma, Spina bif... ORPHA:508498
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Coach Syndrome 1
Coloboma, Optic disc pallor OMIM:216360
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta... ORPHA:2715
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... OMIM:616878
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Increased circulating troponin T concentration, Gas... ORPHA:85443
Neurooculocardiogenitourinary Syndrome
Coloboma OMIM:618652
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly ORPHA:2211
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma ORPHA:2510
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Umbilical hernia, Pigmentary retinopathy OMIM:612582
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... OMIM:560000
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:214110
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... ORPHA:860
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Cree Mental Retardation Syndrome
Coloboma OMIM:606851
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Stevenson-Carey Syndrome
Coloboma OMIM:611961
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma ORPHA:2399
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida ORPHA:1120
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval ORPHA:66634
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta ORPHA:2437
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma OMIM:617306
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Acrocallosal Syndrome
Coloboma, Optic atrophy, Hypopigmentation of the fundus, Umbilical hernia OMIM:200990
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Palpitations, Shortened PR interval, Second degree atrioventricular block,... ORPHA:79102
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... ORPHA:358
Branchio-Oculo-Facial Syndrome
Coloboma, Premature graying of hair, Iris coloboma ORPHA:1297
Acro-Renal-Ocular Syndrome
Chorioretinal coloboma, Optic disc hypoplasia, Optic disc coloboma, Iris coloboma, Coloboma ORPHA:959
Microphthalmia, Syndromic 3
Coloboma, Optic nerve hypoplasia OMIM:206900
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Coffin-Lowry Syndrome
Death in early adulthood, Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy OMIM:614866
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... ORPHA:193
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Hydrocephalus, Pigmentary retinopathy OMIM:309801
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Retinal degeneration, Macular coloboma, Abnormality of macular pigmentation, Hydro... ORPHA:79282
Vacterl With Hydrocephalus
Abnormality of the optic nerve, Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Death in infancy, Myelomeningocele, Spina bifida ORPHA:1393
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced ejection fraction, Right bundle branch block ORPHA:268
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Hypopigmentation of the skin OMIM:163200
2Q31.1 Microdeletion Syndrome
Coloboma, Optic disc coloboma, Iris coloboma ORPHA:251014
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Abnormality of the optic nerve, Optic nerve hypoplasia, Coloboma ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Abnormality of the optic nerve, Optic nerve hypoplasia, Coloboma ORPHA:352665
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Pigmentary retinopathy OMIM:277400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Coloboma ORPHA:453499
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p... ORPHA:50
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG ORPHA:230
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Hypotensi... ORPHA:466650
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Palpitations, Pulmonary arterial hypertensio... ORPHA:70591
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy, Ectopia lentis ORPHA:394
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormality of retinal pigmentation, Optic atrophy, Retinal degenera... ORPHA:580
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Curry-Jones Syndrome
Coloboma OMIM:601707
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma ORPHA:251028
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Spinal dysraphism ORPHA:175
Focal Dermal Hypoplasia
Chorioretinal coloboma, Ectopia lentis, Abnormality of skin pigmentation, Iris coloboma, Spina bi... ORPHA:2092
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Pagod Syndrome
Meningocele, Optic atrophy, Spina bifida, Death in infancy ORPHA:991
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:505248
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Fanconi Anemia, Complementation Group D2
Prolonged G2 phase of cell cycle, Abnormality of skin pigmentation, Hydrocephalus, Cafe-au-lait spot OMIM:227646
Bohring-Opitz Syndrome
Coloboma, Optic atrophy, Retinal atrophy ORPHA:97297
Aicardi Syndrome
Optic atrophy, Chorioretinal lacunae, Optic disc coloboma, Retinal detachment, Spina bifida OMIM:304050
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Neurofibromatosis Type 1
Hypopigmented skin patches, Abnormality of retinal pigmentation, Chorioretinal coloboma, Generali... ORPHA:636
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Abnormality of retinal pigmentation, Retinal dysplasia, Abnormality o... ORPHA:2556
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... ORPHA:1969
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Pigmentary retinopathy OMIM:610651
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma OMIM:615877
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Iniencephaly
Anencephaly, Myelomeningocele, Holoprosencephaly, Spina bifida, Hydrocephalus, Spinal dysraphism ORPHA:63259
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Hallermann-Streiff Syndrome
Spina bifida, Chorioretinal coloboma, Optic disc coloboma, Iris coloboma OMIM:234100
Autosomal Dominant Cerebellar Ataxia
Macular degeneration, Retinal degeneration, Pigmentary retinopathy ORPHA:99
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... ORPHA:2526
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Werner Syndrome
White forelock, Abnormality of retinal pigmentation, Premature graying of hair ORPHA:902
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Hydrocephalus, Pigmentary retinopathy, U... ORPHA:581
Friedreich Ataxia And Congenital Glaucoma
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Con... OMIM:229310
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Anterior Segment Dysgenesis 2
Aniridia, Coloboma OMIM:610256
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Pigmentary retinopathy OMIM:214100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Optic atrophy, Multiple cafe-au-lait spots OMIM:616975
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Abnormality of skin pigmentation, Cafe-au-lait spot OMIM:600901
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Chorioretinal lacunae OMIM:618733
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Abnormality of skin pigmentation, Cafe-au-lait spot OMIM:227650
Kabuki Syndrome
Coloboma, Hydrocephalus ORPHA:2322
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart f... OMIM:601992
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Abnormality of skin pigmentation, Hypopigmentation of the skin, Melanocyt... OMIM:619475
Cockayne Syndrome A
Optic atrophy, Normal pressure hydrocephalus, Abnormality of skin pigmentation, Retinal pigment e... OMIM:216400
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Abnormality of retinal pigmentation, Papilledema, Retinopathy, Abnormal foveal mor... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Abnormality of retinal pigmentation, Papilledema, Retinopathy, Abnormal foveal mor... ORPHA:217093
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Hyperpigmentation of the skin, Cafe-au-lait spot OMIM:227645
Nail-Patella Syndrome
Spina bifida, Lester's sign OMIM:161200
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Iris... ORPHA:167
Pseudohypoparathyroidism Type 1C
Prolonged QT interval ORPHA:79444
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Pigmentary retinopathy ORPHA:90321
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Myelomeningocele, Lens subluxation, Iris coloboma, Spina bifid... ORPHA:2369
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval ORPHA:79443
Retinoblastoma
Retinal calcification, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrh... ORPHA:790
Cockayne Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Reti... ORPHA:191
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus, Iris coloboma OMIM:109400
Proteus Syndrome
Abnormality of retinal pigmentation, Retinal nonattachment, Chorioretinal coloboma, Sirenomelia, ... ORPHA:744
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy ORPHA:14
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Cardiomyopathy, Bundle branch block ORPHA:373
Cockayne Syndrome B
Abnormality of skin pigmentation, Optic atrophy, Normal pressure hydrocephalus, Pigmentary retino... OMIM:133540
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Inguinal freckling, Axillary freckling, Multiple cafe-au-lait spots,... OMIM:162200
Mosaic Trisomy 9
Spina bifida ORPHA:99776
Melas