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Gene: Slc4a7 MGI:2443878

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 4, sodium bicarbonate cotransporter, member 7
Synonyms:
NBCn1,  NBC3,  E430014N10Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Slc4a7 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 Slc4a7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Opticocochleodentate Degeneration
Visual loss, Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness, Cochlear degeneration, Hearing impairment OMIM:271250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Choroideremia, C... OMIM:303110
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
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
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Severely reduced visual acuity, Blindness, Optic atrophy, Hearing impairment OMIM:309555
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Rod-cone dystrophy, Blindness, Retinitis pigmentosa inversa OMIM:268010
Usher Syndrome Type 1
Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea morphology, ... ORPHA:231169
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Cerebral visu... ORPHA:52368
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy, Infantile sensorineural hearing impairment ORPHA:3011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Usher Syndrome Type 3
Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea morphology, ... ORPHA:231183
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Blindness, Optic atrophy, Spinocerebellar atrophy, Cochlear degenera... ORPHA:95433
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... OMIM:610951
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Retinitis Pigmentosa 42
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... OMIM:612943
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
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 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Blind-spot enlargment, Sensorineural hearing impairment, Optic atrophy, Reduce... OMIM:614296
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Scotoma, Optic atrophy, Reduced visual acuity, Hearing impairment OMIM:165300
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... OMIM:125250
Optic Atrophy 8
Abnormal auditory evoked potentials, Central scotoma, Sensorineural hearing impairment, Abnormali... OMIM:616648
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... ORPHA:59181
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Usher Syndrome, Type Iid
Abnormal vestibular function, Nyctalopia, Rod-cone dystrophy, Hearing impairment OMIM:611383
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Optic Atrophy 9
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... OMIM:616289
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Leber Congenital Amaurosis 1
Blindness, Fundus atrophy, Sensorineural hearing impairment, Nyctalopia, Reduced visual acuity, O... OMIM:204000
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Usher Syndrome, Type Iiia
Abnormal vestibular function, Sensorineural hearing impairment, Nyctalopia, Reduced visual acuity... OMIM:276902
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... OMIM:600138
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, EEG abnormality, Abnormality of vi... ORPHA:141
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:618144
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... OMIM:616544
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Variegate Porphyria
Tachycardia OMIM:176200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Narp Syndrome
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... ORPHA:644
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Bietti Crystalline Dystrophy
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... ORPHA:41751
Usher Syndrome, Type 1M
Optic disc pallor, Abnormal vestibular function, Drusen, Nyctalopia, Prelingual sensorineural hea... OMIM:618632
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescen... OMIM:204200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... OMIM:616108
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness, Hearing impairment OMIM:302700
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Reduced visual acuity, Pho... OMIM:617879
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Blindness, Cerebral atrophy, Hearing impairment OMIM:617899
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul... OMIM:256730
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect OMIM:618511
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... OMIM:607921
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... OMIM:613750
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... ORPHA:85128
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Sensorineur... ORPHA:791
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Sandhoff Disease
Cherry red spot of the macula, Blindness, Hearing impairment ORPHA:796
Stargardt Disease 3
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment OMIM:600110
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... OMIM:612712
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Spastic Paraplegia 81, Autosomal Recessive
Cerebral visual impairment, Sensorineural hearing impairment, Optic atrophy, Reduced visual acuit... OMIM:618768
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Tiglic Acidemia
Acidosis OMIM:275190
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased nerve con... OMIM:245200
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:204100
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... OMIM:180210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:601718
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... OMIM:613731
Retinitis Pigmentosa 78
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... OMIM:617433
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Retinitis Pigmentosa 71
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... OMIM:616394
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... OMIM:180100
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Dilatated internal auditory canal, Chorioret... ORPHA:1435
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Sensorineural heari... ORPHA:1215
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Sensorineural hearing impairment, Optic atrophy, Undetectable visual evok... OMIM:601338
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, ... OMIM:551500
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... OMIM:616152
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Retinitis Pigmentosa 63
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision OMIM:614494
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... ORPHA:414
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Absent retinal pigment epithelium, Patent ductus arteriosus, Sensorineural hearing impairment, Re... OMIM:122430
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Sensorineural hearin... OMIM:612989
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... OMIM:613862
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Retinopathy Of Prematurity
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... ORPHA:90050
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Optic Pathway Glioma
Papilledema, Blindness, Visual loss, Vertigo, Optic atrophy, Reduced visual acuity, Visual field ... ORPHA:2086
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... ORPHA:97341
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Canavan Disease
Blindness, Optic atrophy, Multifocal epileptiform discharges, Hypsarrhythmia, Brain atrophy, Visu... OMIM:271900
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... OMIM:619260
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:169150
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Sensorineural hearing impairment, Nyctalopia, Reduced vi... OMIM:613861
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Sarcosinemia
Congenital blindness, Optic atrophy, Infantile sensorineural hearing impairment ORPHA:3129
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ... OMIM:617523
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:606068
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:320401
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Myopia, Abnormal retinal ... ORPHA:1390
Succinic Acidemia
Lactic acidosis OMIM:600335
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Constriction of peripheral visual field, Patchy atrophy of the retinal pigment ... ORPHA:436245
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613582
Bardet-Biedl Syndrome 16
Reduced visual acuity, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing ... OMIM:615993
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect OMIM:611543
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... OMIM:165500
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Wolfram Syndrome, Mitochondrial Form
Blindness, Sensorineural hearing impairment, Optic atrophy, Abnormal autonomic nervous system phy... OMIM:598500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Cerebral visual impairment, Sensorineural hear... OMIM:617519
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... ORPHA:52427
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... OMIM:619007
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... OMIM:613428
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:613758
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... OMIM:619382
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Choroideremia
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Retinal Capillary Malformation
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... ORPHA:71213
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Uplifted earlobe, Cerebral visual impairment, Optic atrophy, Reduced visual ac... OMIM:615722
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... OMIM:614180
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Moyamoya Disease
Telangiectasia ORPHA:2573
Eales Disease
Optic disc pallor, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Nyctalopia, Absent fovea... OMIM:615147
Infantile Refsum Disease
Constriction of peripheral visual field, Facial palsy, Sensorineural hearing impairment, Nyctalop... ORPHA:772
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:610282
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Optic disc pallor, Retinal detachment, Myopia, Central scotoma, Absent f... OMIM:300476
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal... ORPHA:391428
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:620102
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Blindness, Optic atrophy ORPHA:216873
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Congenital sensorineural hearing impairment... ORPHA:1187
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Retinitis Pigmentosa 20
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... OMIM:613794
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Abnormal amplitude o... ORPHA:168491
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural h... OMIM:601455
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Retinitis Pigmentosa 40
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... OMIM:613801
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr... OMIM:256600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensorineural hearing impairment, Optic atrophy, Nyctalopia ORPHA:99947
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormality of the inner ear, Nyc... ORPHA:231178
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... OMIM:600977
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ... OMIM:609033
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... OMIM:617406
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Usher Syndrome
Abnormal vestibular function, Abnormality of retinal pigmentation, Myopia, Blindness, Sensorineur... ORPHA:886
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v... ORPHA:98890
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Abnormal pinna morphology, Optic atrophy, Brain atrophy, Macrotia, Profound hearing im... ORPHA:3078
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Madras Motor Neuron Disease
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Reduced visual acuity, Tinnitus, V... ORPHA:137867
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Large central visual field def... ORPHA:79264
Albers-Schönberg Osteopetrosis
Blindness, Facial palsy, Optic atrophy, Visual impairment, Hearing impairment ORPHA:53
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impairment OMIM:613398
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormali... ORPHA:2971
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206443
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... OMIM:619977
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Behr Syndrome
Cerebellar atrophy, Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, ... OMIM:210000
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Sensorineural hearing impairment, Nyctalopia, Reduced vi... OMIM:614879
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia OMIM:603284
Nanophthalmos 4
Hypermetropia, Reduced visual acuity, Optic disc drusen OMIM:615972
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Blindness, Sensorineural hearing impairment, Patent ductus arteriosus, Optic atrophy, Cerebral at... OMIM:220500
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:613983
Leber Congenital Amaurosis
Severely reduced visual acuity, Abnormality of retinal pigmentation, Abnormal optic disc morpholo... ORPHA:65
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Cln3 Disease
Cerebellar atrophy, Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retin... ORPHA:228346
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Blindness, Sensorineural hearing impairment, Optic atrophy, Rod-cone dystroph... ORPHA:254913
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P... OMIM:300578
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... ORPHA:206436
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Cinca Syndrome
Blindness, Retrobulbar optic neuritis, Sensorineural hearing impairment, EEG abnormality, Pseudop... ORPHA:1451
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... OMIM:312612
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... ORPHA:440727
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia OMIM:615181
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness, Hearing impairment OMIM:560000
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss, Low-set ears OMIM:618161
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... OMIM:193220
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Blindness, Increased neuronal autofluorescent lip... ORPHA:79263
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Myopia, Posteriorly rotated ears, Nyctalopia, High myopia, Low-set ears, Rod-... OMIM:617763
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... ORPHA:436274
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Cone-Rod Dystrophy And Hearing Loss 2
High-frequency sensorineural hearing impairment, Photophobia, Reduced visual acuity OMIM:618358
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Visual impairment OMIM:616881
Optic Atrophy-Intellectual Disability Syndrome
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt... ORPHA:401777
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Patent ductus arteriosus after birth at term, Hypoplasia of the semici... ORPHA:251061
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Stickler Syndrome, Type I
Retinal detachment, Myopia, Blindness, Sensorineural hearing impairment, Vitreoretinopathy, Membr... OMIM:108300
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Crouzon Syndrome
Amblyopia, Optic atrophy, Conductive hearing impairment, Narrow internal auditory canal, Hearing ... ORPHA:207
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Tritanopia
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... ORPHA:88629
Refsum Disease, Classic
Sensorineural hearing impairment, Rod-cone dystrophy, Retinal degeneration, Nyctalopia OMIM:266500
Leukoencephalopathy With Vanishing White Matter 1
Blindness, Optic atrophy OMIM:603896
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613810
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Blindness, Abnormal retinal vascular morphology,... ORPHA:3205
Retinitis Pigmentosa
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... OMIM:268000
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Refsum Disease
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Nyctalopia, Abnormality of... ORPHA:773
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Macrotia, Abnormality of pattern visual evoked potentials, Nyctalopia, Visual field defect, Low-s... ORPHA:166035
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Alpha-N-Acetylgalactosaminidase Deficiency
Vertigo, Blindness, Cerebral cortical atrophy, Hearing impairment ORPHA:3137
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Myopia, Retinal neovascularization, Hearing impairment OMIM:619074
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks OMIM:611809
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Exudative Vitreoretinopathy 3
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... OMIM:605750
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Optic atrophy, Low-set ears OMIM:608688
Norrie Disease
Retinal detachment, Blindness, Sensorineural hearing impairment, Optic atrophy, Retinal dysplasia... OMIM:310600
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Osteopetrosis, Autosomal Recessive 1
Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment, Hearing impairment OMIM:259700
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness, Protruding ear OMIM:618731
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce... OMIM:152950
Primary Angiitis Of The Central Nervous System
Abnormal visual field test, Vertigo, Diplopia, Reduced visual acuity, Pseudopapilledema, Amaurosi... ORPHA:140989
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Retinal dystrophy, Reduced visual acuity OMIM:610156
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Distal Deletion 10Q
Myopia, Congenital sensorineural hearing impairment, Patent ductus arteriosus, Cochlear malformat... ORPHA:96148
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Abnormal pinna morphology, Cerebral visual impairment, Corpus callosum atrophy, Optic atr... ORPHA:480898
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:617304
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Blindness, Retinal dystrophy, Aganglionic megacolon, Chorioret... ORPHA:2318
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Hyperostosis Cranialis Interna
Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Redu... OMIM:144755
Cranioectodermal Dysplasia 4
Nyctalopia, Hypermetropia, Protruding ear, Rod-cone dystrophy, Visual impairment OMIM:614378
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Full Nf2-Related Schwannomatosis
Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma... ORPHA:637
Norrie Disease
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... ORPHA:649
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... OMIM:615058
Momo Syndrome
Blindness, Underfolded helix, Retinal coloboma OMIM:157980
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project... ORPHA:2788
Tularemia
Tachycardia ORPHA:3392
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... OMIM:258870
Cach Syndrome
Cerebellar atrophy, Blindness, Optic atrophy, Cerebral atrophy, Optic neuritis, Atrophy/Degenerat... ORPHA:135
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
20P13 Microdeletion Syndrome
Abnormal pinna morphology, Posteriorly rotated ears, Reduced visual acuity, EEG abnormality, Low-... ORPHA:313781
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor... ORPHA:35069
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Reduced visual acuity, Low-set ears, Macrotia, Visual impai... OMIM:615145
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Mohr-Tranebjaerg Syndrome
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... OMIM:304700
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
White-Sutton Syndrome
Cerebellar atrophy, Myopia, Blindness, Posteriorly rotated ears, Sensorineural hearing impairment... ORPHA:468678
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Alstrom Syndrome
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... OMIM:203800
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Reduced visual acuity OMIM:217400
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Abnormal au... OMIM:616683
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Macrotia, Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Low-set e... OMIM:250410
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary... ORPHA:88628
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Cerebral cortical atrophy, Visual impairm... ORPHA:702
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... OMIM:216900
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Xfe Progeroid Syndrome
Blindness, Hearing impairment, Optic atrophy, Visual impairment, Attenuation of retinal blood ves... OMIM:610965
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Abnormal tragus morphology, Macrotia, Blindness ORPHA:66625
Asparagine Synthetase Deficiency
Caudate atrophy, Blindness, Optic nerve hypoplasia, Cerebral visual impairment, EEG with burst su... OMIM:615574
Adrenoleukodystrophy
Visual loss, Blindness, Neurodegeneration, Hearing impairment OMIM:300100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Visual impairment, Abnorma... ORPHA:1933
Aica-Ribosiduria
Congenital blindness, Low-set ears ORPHA:250977
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:600151
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Gm1 Gangliosidosis
Blindness, Abnormal retinal vascular morphology, Patent ductus arteriosus, Optic atrophy, Retinop... ORPHA:354
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation ORPHA:171844
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Hypsarrhythmia, Anterior creases of earlobe, Abnormality of visual evoked pote... ORPHA:314389
Cohen Syndrome
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... OMIM:216550
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy ORPHA:370959
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Central scotoma, Optic atrophy, EEG abno... ORPHA:543470
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... OMIM:618955
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ... ORPHA:96
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal... ORPHA:2526
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Mi... OMIM:236670
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebral visual impairmen... ORPHA:2510
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Maternal Uniparental Disomy Of Chromosome 4
Sensorineural hearing impairment, Nyctalopia, Optic atrophy, Visual field defect, Pigmentary reti... ORPHA:96180
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Myopia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... OMIM:615374
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Blindness, Corpus callosum atrophy, Atrophy/Degeneration affecting the ... ORPHA:77299
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Rodrigues Blindness
Blindness, Protruding ear OMIM:268320
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Blindness, Reduced visual acuity ORPHA:3208
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Photophobia, Pigmentary retinopathy, Visual i... ORPHA:90321
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... OMIM:613835
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v... ORPHA:157850
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cataract 11, Multiple Types
Blindness OMIM:610623
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Vertigo, Reduced visual acuity, Severe sensorineura... OMIM:614195
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... OMIM:614921
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Bilateral sensorineura... ORPHA:309256
Isolated Complex I Deficiency
Optic disc pallor, Sensorineural hearing impairment, Blindness, Optic neuropathy ORPHA:2609
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, EEG with focal sharp waves, Cerebral atrophy, Hypsarrhythmia, EEG with generalized sha... ORPHA:79243
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness OMIM:259710
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Brain atrophy OMIM:618225
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Myopia, Bone spicule pigmentation of the retina, Aganglioni... OMIM:209900
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Cryptococcosis
Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor... ORPHA:1546
Mucopolysaccharidosis Type 3
Myopia, Mixed hearing impairment, Constriction of peripheral visual field, Blindness, Thickened h... ORPHA:581
Tay-Sachs Disease
Cerebellar atrophy, Blindness, Optic atrophy, Cherry red spot of the macula, Visual impairment, G... ORPHA:845
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Blindness, Hearing impairment, Protruding ear ORPHA:1806
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Bilateral sensorineura... ORPHA:309263
Illum Syndrome
Bradycardia OMIM:208155
Momo Syndrome
Blindness, Underfolded helix, Chorioretinal coloboma ORPHA:2563
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Sensorineural hearing impairment, Reduced visual acuity, Retinal degeneration, Visual impairment OMIM:615249
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment, Blindness ORPHA:79107
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Blindness, Low-set ears, Cherry red spot of the macula, Macrotia, Heari... ORPHA:79255
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... OMIM:616959
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Incomplete partition of the cochlea type II OMIM:617660
Dysosteosclerosis
Blindness, Facial paralysis, Optic atrophy, Hearing impairment OMIM:224300
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnor... ORPHA:94147
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... ORPHA:485421
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Methanol Poisoning
Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision ORPHA:31825
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Friedreich Ataxia
Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... OMIM:229300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Myopia, Blindness, Aganglionic megacolon, Sensorineural hearing impairment, Optic atrophy, Cerebr... ORPHA:847
Hydranencephaly
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Infantile sensor... ORPHA:2177
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:216400
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Constriction of peripheral visual field, Sensorineural hearing impairment, Red... OMIM:618527
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Idiopathic Uveal Effusion Syndrome
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... ORPHA:209956
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Sensorineural heari... ORPHA:79330
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Myopia, Visual loss, Optic atrophy, Opto-chiasmatic atrophy, Cerebral atrophy... OMIM:615491
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, La... ORPHA:798
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness, Cerebral atrophy OMIM:250940
Adult Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, C... OMIM:616875
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Reduced visual acuity, Cervical spinal ... ORPHA:95
Mepan Syndrome
Cerebellar atrophy, Optic atrophy, Reduced visual acuity, Cerebral atrophy, Abnormality of visual... ORPHA:508093
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness, Cerebral cortical atrophy, Cerebral atrophy OMIM:236270
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Large central visual field defect... ORPHA:580
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... OMIM:616468
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation OMIM:619705
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Blindness, Optic neuropathy, Sensorineural hearing impairm... OMIM:252010
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... ORPHA:71505
Mccune-Albright Syndrome
Blindness, Hearing impairment OMIM:174800
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Graft Versus Host Disease
Tachycardia ORPHA:39812
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Axenfeld-Rieger Syndrome, Type 2
Blindness, Hearing impairment OMIM:601499
White-Sutton Syndrome
Myopia, Posteriorly rotated ears, Optic nerve hypoplasia, Mild myopia, Sensorineural hearing impa... OMIM:616364
Mirizzi Syndrome
Tachycardia ORPHA:521219
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Bilateral sensorineura... ORPHA:309271
X-Linked Cerebral Adrenoleukodystrophy
Blindness, Reduced visual acuity, Global brain atrophy, Hearing impairment ORPHA:139396
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma OMIM:602499
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... OMIM:120330
Enhanced S-Cone Syndrome
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Constriction of peripheral visual field, Reduced visual acuity, Perifoveal ring of hyperautofluor... OMIM:240300
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly... ORPHA:2556
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ... ORPHA:79098
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso... ORPHA:217085
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness, Bilateral sensorineural hearing impairment ORPHA:853
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness ORPHA:726
Hyper-Igd Syndrome
Optic disc pallor, Vertigo, Rod-cone dystrophy, Nyctalopia OMIM:260920
Pettigrew Syndrome
Sensorineural hearing impairment, Optic atrophy, Reduced visual acuity, High-frequency hearing im... OMIM:304340
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso... ORPHA:217093
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... ORPHA:263479
Non-Functioning Pituitary Adenoma
Bitemporal hemianopia, Blindness, Vertigo, Diplopia, Hemianopia, Sudden loss of visual acuity, He... ORPHA:91349
Bardet-Biedl Syndrome 20
Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret... OMIM:619471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Reduced visual acuity OMIM:216820
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Blindness OMIM:268800
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... ORPHA:91495
Meningioma
Papilledema, Bitemporal hemianopia, Blindness, Facial palsy, Ear pain, Slow decrease in visual ac... ORPHA:2495
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Prolactinoma
Bitemporal hemianopia, Blindness, Vertigo, Diplopia, Hemianopia, Sudden loss of visual acuity, He... ORPHA:2965
Cogan Syndrome
Abnormal vestibular function, Blindness, Vertigo, Sensorineural hearing impairment, Reduced visua... ORPHA:1467
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Sensorineural hearing impairment, Blindness OMIM:148210
Retinitis Pigmentosa 74
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret... OMIM:616562
Lowry-Wood Syndrome
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss OMIM:226960
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Visual ... OMIM:125310
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Exudative retinopathy, Blindness, Optic atrophy, Retinal telangiectasia OMIM:612199
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Reduced visual acuity, Pigmentary retinopathy, Low-set ears, Macrotia, Cerebral cortical atrophy,... OMIM:277400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Bilateral sensorineural hea... OMIM:619418
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Dpagt1-Cdg
EEG with generalized slow activity, Nyctalopia, Optic atrophy, Hypsarrhythmia, Diffuse optic disc... ORPHA:86309
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness, Hearing impairment OMIM:158310
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced... ORPHA:67036
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Nyctalopia, Low-set ears, Recurrent otitis media, Visual impairment, Hearing ... OMIM:252940
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu... OMIM:264800
Tay-Sachs Disease
Cherry red spot of the macula, Blindness OMIM:272800
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia, Hearing impairment ORPHA:3194
Saul-Wilson Syndrome
Nyctalopia, Sensorineural hearing impairment, Hearing impairment OMIM:618150
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Visual field defec... ORPHA:247691
Stickler Syndrome
Retinal detachment, Myopia, Blindness, Sensorineural hearing impairment, Abnormal vitreous humor ... ORPHA:828
Cherubism
Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M... OMIM:118400
Abetalipoproteinemia
Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Progressive visual loss, Rod... ORPHA:14
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopia, Moderate hypermetropia, Ocular albinism, Redu... OMIM:614077
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Meier-Gorlin Syndrome 1
Microtia, Atresia of the external auditory canal, Low-set ears, Incomplete partition of the cochl... OMIM:224690
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Reduced visual acuity, Blurred vision ORPHA:293603
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... ORPHA:280365
Weill-Marchesani Syndrome 2
Thickened helices, Patent ductus arteriosus, Blindness, High myopia OMIM:608328
Gm2-Gangliosidosis, Ab Variant
Blindness, Neurodegeneration, Cerebral atrophy OMIM:272750
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness OMIM:203300
Microphthalmia, Syndromic 6
Myopia, Blindness, Posteriorly rotated ears, Retinal dystrophy, Uplifted earlobe, Protruding ear,... OMIM:607932
Floating-Harbor Syndrome
Conductive hearing impairment, Cochlear malformation, Hypermetropia, Low-set ears ORPHA:2044
Arima Syndrome
Blindness, Retinal dystrophy, Optic atrophy, Chorioretinal coloboma OMIM:243910
Pierson Syndrome
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... OMIM:609049
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Musk, Inability To Smell
Blindness OMIM:254150
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impairment, ... ORPHA:512
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis ORPHA:3384
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Renpenning Syndrome 1
Blindness, Cupped ear, Cerebral atrophy, Protruding ear, Hypermetropia, Macrotia, Hearing impairment OMIM:309500
Behçet Disease
Blindness, Retrobulbar optic neuritis, Vertigo, Photophobia, Optic neuritis, Retinopathy ORPHA:117
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Ogden Syndrome
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... OMIM:300855
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Blindness, Abnormal visual field test, Vertigo, Diplopia, Hemianopia, Sudd... ORPHA:91347
Cystinosis, Nephropathic
Blindness, Retinal pigment epithelial mottling, Reduced visual acuity, Cerebral atrophy, Photopho... OMIM:219800
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Blindness, Facial palsy, Visual loss, Diplopia, Photophobia ORPHA:68
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness, Optic nerve dysplasia, Retinal dysplasia OMIM:615287
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Autosomal Recessive Malignant Osteopetrosis
Otitis media, Abnormality of visual evoked potentials, Optic nerve compression, Visual impairment... ORPHA:667
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Retinal detachment, Blindness, Myopia OMIM:225400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Menke-Hennekam Syndrome 1
Short ear, Prominent inferior crus of antihelix, Blindness, Hypermetropia, Protruding ear, Low-se... OMIM:618332
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Degcags Syndrome
Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis OMIM:619488
Fraser Syndrome 1
Blindness, Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, Low-set... OMIM:219000
Osteoporosis-Pseudoglioma Syndrome
Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness OMIM:259770
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Optic atrophy, Cerebellar cortical atrophy OMIM:619321
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Joubert Syndrome 5
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity OMIM:610188
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Optic nerve compression, Abnormal optic nerve morphology ORPHA:79078
17Q11 Microdeletion Syndrome
Blindness, Retinal vascular proliferation, Abnormal choroid morphology, Low-set ears, Progressive... ORPHA:97685
Microphthalmia, Syndromic 1
Blindness, Abnormal pinna morphology, Aganglionic megacolon, Optic disc coloboma, Low-set ears, C... OMIM:309800
Pineoblastoma
Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f... ORPHA:251909
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Fraser Syndrome
Low-set, posteriorly rotated ears, Blindness, External ear malformation, Atresia of the external ... ORPHA:2052
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Fuchs Endothelial Corneal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity ORPHA:98974
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Blindness, High myopia OMIM:277600
Leprosy
Blindness, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology ORPHA:548
Webb-Dattani Syndrome
Blindness OMIM:615926
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2250
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Alström Syndrome
Cone/cone-rod dystrophy, Abnormal vestibular function, Optic disc pallor, Retinal pigment epithel... ORPHA:64
Senior-Loken Syndrome 3
Visual loss, Congenital blindness OMIM:606995
Hepatoerythropoietic Porphyria
Blindness ORPHA:95159
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Photophobia, Visual loss, Blindness, Renal tubular epithelial necrosis ORPHA:95455
Congenital Erythropoietic Porphyria
Blindness ORPHA:79277

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 Slc4a7

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 Slc4a7.

No publications found that use IMPC mice or data for Slc4a7.

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
Slc4a7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc4a7tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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