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:
NBC3,  NBCn1,  E430014N10Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Optic atrophy, Hearing impairment, Cochlear degeneration, Visual loss OMIM:258700
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Blindness OMIM:271250
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Nyctalopia, Constriction of peripheral visual field... OMIM:303110
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Hearing impairment, Blindness, Severely reduced visual acuity OMIM:309555
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Usher Syndrome, Type Iid
Hearing impairment, Blindness, Rod-cone dystrophy OMIM:611383
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Infantile sensorineural hearing impairment, Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Usher Syndrome Type 1
Sensorineural hearing impairment, Cerebral cortical atrophy, High hypermetropia, Nyctalopia, Vest... ORPHA:231169
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Conjunctival telangiectasia, Optic atrophy, Cochlear degeneration, Heari... ORPHA:95433
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Usher Syndrome Type 3
Sensorineural hearing impairment, High hypermetropia, Nyctalopia, Vestibular hypofunction, Hemian... ORPHA:231183
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Ceroid Lipofuscinosis, Neuronal, 7
EEG abnormality, Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Neurodegeneration, Visual... OMIM:610951
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic atrophy, Optic disc pallor, Scotoma, Hearing impairment OMIM:165300
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Centrocecal scotoma, Abnormal amplitude of pattern reversal visual evoked potentials, Tritanomaly... OMIM:125250
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Reduced visual acuity, Progressive hearing impairment, Optic at... OMIM:614296
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Optic Atrophy 8
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Prolonged soma... OMIM:616648
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of ... OMIM:204000
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Canavan Disease
Abnormality of retinal pigmentation, EEG abnormality, Abnormality of visual evoked potentials, Op... ORPHA:141
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Congenit... ORPHA:90646
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced vi... OMIM:276902
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of... OMIM:618144
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal p... ORPHA:644
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Variegate Porphyria
Tachycardia OMIM:176200
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Usher Syndrome, Type 1M
Nyctalopia, Optic disc pallor, Prelingual sensorineural hearing impairment, Vestibular dysfunctio... OMIM:618632
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Increased serum lactate OMIM:615158
Ceroid Lipofuscinosis, Neuronal, 1
EEG abnormality, Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Inc... OMIM:256730
Cerebral Sclerosis, Diffuse, Scholz Type
Hearing impairment, Blindness OMIM:302700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Reduced visual ... OMIM:204200
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Blindness, Abnormality of retina... ORPHA:791
Leukodystrophy, Hypomyelinating, 14
Hearing impairment, Blindness, Cerebral atrophy, Cerebellar atrophy OMIM:617899
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... OMIM:613690
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Retinitis Pigmentosa 30
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... OMIM:607921
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Sandhoff Disease
Hearing impairment, Blindness, Cherry red spot of the macula ORPHA:796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Leber Congenital Amaurosis 13
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... OMIM:612712
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Neuropathy, Ataxia, And Retinitis Pigmentosa
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy... OMIM:551500
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Krabbe Disease
Abnormal flash visual evoked potentials, EEG abnormality, Decreased nerve conduction velocity, Ne... OMIM:245200
Tiglic Acidemia
Acidosis OMIM:275190
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Choroideremia,... ORPHA:1435
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Retinitis Pigmentosa 76
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:617123
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Reduced visual acuity, Optic atrophy, Retinal vascular tortuosi... OMIM:618768
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Attenuation of retinal ... OMIM:616394
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Constriction of peripheral... ORPHA:1215
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Sensorineural hearing impairment, Absent retinal pigment epithelium, Reduced visual acuity, Paten... OMIM:122430
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Blindness, Visual loss, Optic atrophy, Undetectable visual evok... OMIM:601338
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180100
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Nanophthalmos 4
Reduced visual acuity, Visual impairment, Optic disc drusen OMIM:615972
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy OMIM:614494
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Constriction of peripheral visual field, Abnormal macular morpho... ORPHA:414
Retinitis Pigmentosa 29
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Constriction of peripheral visual field, Reduced visual acuity,... OMIM:612989
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Optic Pathway Glioma
Visual field defect, Papilledema, Reduced visual acuity, Visual loss, Optic atrophy, Vertigo, Bli... ORPHA:2086
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Retinitis Pigmentosa 50
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... OMIM:613194
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Renal Tubular Acidosis, Proximal
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis OMIM:179830
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Canavan Disease
Blindness, Brain atrophy, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharges, Hear... OMIM:271900
Persistent Placoid Maculopathy
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... ORPHA:97341
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia OMIM:614181
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... OMIM:613341
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Constrict... ORPHA:436245
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal motor evoked potentials, Abnormality of visual evoked ... ORPHA:320401
Succinic Acidemia
Lactic acidosis OMIM:600335
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, High hypermetropia, Brain atrophy, Retinal degeneration, Cerebr... OMIM:619260
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Low-set, p... ORPHA:1390
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615922
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Sarcosinemia
Optic atrophy, Infantile sensorineural hearing impairment, Congenital blindness ORPHA:3129
Optic Atrophy 1
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... OMIM:165500
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Jalili Syndrome
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy OMIM:217080
Retinitis Pigmentosa 28
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... OMIM:606068
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... OMIM:618826
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness OMIM:613731
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... OMIM:616289
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Optic atrophy, Blindness, Abnormal autonomic nervous system phy... OMIM:598500
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:614186
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... ORPHA:411527
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity OMIM:611543
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Cerebral ... OMIM:617519
Macular Degeneration, Early-Onset
Reduced visual acuity, Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Congenital sensorineural hearing impairment, Absen... ORPHA:52427
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Optic atrophy, Visual impairment, Reduced visual acuity OMIM:270500
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Optic atrophy, Optic disc pallo... OMIM:618977
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Uplifted earlobe, Protruding ear, Visual field defect, Reduced visual acuity, Optic atrophy, Prom... OMIM:615722
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... OMIM:619382
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... OMIM:613428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Retinal Capillary Malformation
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... ORPHA:71213
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Atrial Fibrillation, Familial, 4
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... OMIM:611493
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduction velocity,... OMIM:601455
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... OMIM:600105
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Optic Atrophy 11
Facial diplegia, Hypermetropia, Brain atrophy, Amblyopia, Optic atrophy, Macrotia, Hearing impair... OMIM:617302
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Retinitis Pigmentosa 61
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... OMIM:614180
Moyamoya Disease
Telangiectasia ORPHA:2573
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Infantile Refsum Disease
Sensorineural hearing impairment, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visu... ORPHA:772
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Retinitis Pigmentosa 7
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... OMIM:608133
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinopathy, Blindness ORPHA:216873
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Lethal Ataxia With Deafness And Optic Atrophy
Congenital sensorineural hearing impairment, Blindness, EEG with focal epileptiform discharges, D... ORPHA:1187
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Retinal degeneration, Cerebral atrophy, Rod-cone dystrophy, Neur... ORPHA:391428
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... OMIM:600852
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575
Irvan Syndrome
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... ORPHA:209943
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... OMIM:212138
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... OMIM:600059
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Cone Rod Dystrophy
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment ORPHA:1872
Retinitis Pigmentosa 35
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... OMIM:268080
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Leber Congenital Amaurosis 15
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... OMIM:613843
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Color vision defect, Reduced visual acuity, Optic disc pallor, Central scotoma, Blin... OMIM:616732
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... OMIM:312600
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Severe Canavan Disease
Optic atrophy, Blindness ORPHA:314911
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Abnormal amplitude of flash visual evoked potentials, Cerebral... ORPHA:168491
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:615725
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Central scotoma, Visual impairment OMIM:615035
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... OMIM:617406
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... OMIM:613801
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Posterior Column Ataxia With Retinitis Pigmentosa
Ring scotoma, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Nyctalopia, Attenu... OMIM:609033
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Macular degeneration, Reduced visual acuity, Optic disc ... OMIM:618195
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Color vision defect, Reduced visual acuity, Optic atrophy, O... ORPHA:98890
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... OMIM:180104
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy, Low-set ears, Congenital blindness OMIM:608688
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Madras Motor Neuron Disease
Sensorineural hearing impairment, Reduced visual acuity, Optic atrophy, Tinnitus, Facial palsy, V... ORPHA:137867
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensorineural hearing impairment, Optic atrophy, Nyctalopia ORPHA:99947
Usher Syndrome
Sensorineural hearing impairment, Visual field defect, Blindness, Cerebral cortical atrophy, Abno... ORPHA:886
Severe X-Linked Intellectual Disability, Gustavson Type
Abnormal pinna morphology, Brain atrophy, Optic atrophy, Profound hearing impairment, Macrotia, B... ORPHA:3078
Warsaw Breakage Syndrome
Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma OMIM:613398
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Albers-Schönberg Osteopetrosis
Blindness, Facial palsy, Optic atrophy, Hearing impairment, Visual impairment ORPHA:53
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... OMIM:601596
Retinitis Pigmentosa 18
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... OMIM:601414
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... OMIM:616188
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia OMIM:614565
Usher Syndrome Type 2
Sensorineural hearing impairment, Cerebral cortical atrophy, Nyctalopia, Hemianopia, Visual loss,... ORPHA:231178
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy OMIM:610156
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impairment, Aganglio... OMIM:600501
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:133780
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Visual loss, Interictal EEG abnor... ORPHA:79264
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia OMIM:610356
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, EEG abnormality, Abnormality of visual evoked potentials, Optic... ORPHA:2971
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Increased serum lactate, Ketoacidosis, Episodic ketoacidosis, Lactic acidosis OMIM:615453
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Blindness, Decreased nerve conduction velocity, A... ORPHA:206443
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Hearing impairment, Retinal infarction, Abnormal... OMIM:180080
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely... ORPHA:65
Retinitis Pigmentosa 10
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180105
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 41
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigme... OMIM:612095
Morm Syndrome
Visual impairment, Retinal atrophy, Retinal dystrophy, Progressive night blindness ORPHA:75858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... OMIM:619977
Retinitis Pigmentosa 92
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... OMIM:619614
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Slow decrease in visual acuity, Color vision defect, Decreased motor nerve conduction velocity, A... OMIM:601152
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral hemorrhage OMIM:603284
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... OMIM:602093
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... OMIM:267760
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Decreased nerve conduction velocity, Cerebral atrophy, A... OMIM:256600
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Retinitis Pigmentosa 66
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, O... OMIM:615233
Retinitis Pigmentosa 58
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic... OMIM:613617
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy, Nyctalopia OMIM:179840
Cinca Syndrome
Sensorineural hearing impairment, Blindness, EEG abnormality, Pseudopapilledema, Retrobulbar opti... ORPHA:1451
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de... OMIM:193220
Retinitis Pigmentosa 49
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Opti... OMIM:613756
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... ORPHA:542323
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... OMIM:616469
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:614947
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, High hypermetropia, Retinal degeneration OMIM:617879
Infantile Krabbe Disease
Photophobia, Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of v... ORPHA:206436
Retinitis Pigmentosa 6
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, ... OMIM:312612
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:601813
Retinitis Pigmentosa 86
Cystoid macular edema, Nyctalopia, Nummular pigmentation of the fundus, Attenuation of retinal bl... OMIM:618613
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hearing impairment, Blindness, Pigmentary retinopathy OMIM:560000
Late-Onset Retinal Degeneration
Photophobia, Nyctalopia, Macular degeneration, Tritanomaly, Patchy atrophy of the retinal pigment... ORPHA:67042
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... OMIM:613426
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morpho... ORPHA:440727
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myop... OMIM:300578
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Sensorineural hearing impairment, Low-set ears, Cerebral atrophy, Optic atrophy, High myopia, Pat... OMIM:220500
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension OMIM:615506
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Joubert Syndrome 35
Progressive visual loss, Low-set ears, Nyctalopia, Rod-cone dystrophy OMIM:618161
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity, High-frequency sensorineural hearing impairment OMIM:618358
Infantile Neuronal Ceroid Lipofuscinosis
Progressive visual field defects, Cerebral cortical atrophy, Cerebral atrophy, Brain atrophy, EEG... ORPHA:79263
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Reduced visual acuity, Falcifor... OMIM:305390
Refsum Disease, Classic
Sensorineural hearing impairment, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:266500
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... OMIM:602772
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood v... ORPHA:436274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Blindness, Myopia OMIM:615181
Idiopathic Uveal Effusion Syndrome
Visual field defect, Reduced visual acuity, Blurred vision, Subretinal fluid, Exudative retinal d... ORPHA:209956
Crouzon Syndrome
Conductive hearing impairment, Amblyopia, Optic atrophy, Narrow internal auditory canal, Hearing ... ORPHA:207
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... OMIM:540000
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visua... OMIM:600132
Optic Atrophy-Intellectual Disability Syndrome
Hypermetropia, Protruding ear, Visual field defect, Abnormal helix morphology, Optic nerve hypopl... ORPHA:401777
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:616544
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Retinitis Pigmentosa 56
Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retina... OMIM:613581
Tritanopia
Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Stickler Syndrome, Type I
Sensorineural hearing impairment, Conductive hearing impairment, Membranous vitreous appearance, ... OMIM:108300
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... OMIM:303700
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia OMIM:613093
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... ORPHA:364055
Refsum Disease
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, A... ORPHA:773
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Reduced visual acuity, Visual impairment, Tractional retinal detachm... OMIM:613310
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Blindness OMIM:603896
Retinitis Pigmentosa 43
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Opt... OMIM:613810
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Sturge-Weber Syndrome
Cerebral cortical atrophy, Abnormal retinal vascular morphology, Retinal detachment, Conjunctival... ORPHA:3205
Alpha-N-Acetylgalactosaminidase Deficiency
Vertigo, Hearing impairment, Cerebral cortical atrophy, Blindness ORPHA:3137
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Retinal dystrophy, Paten... OMIM:615147
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... OMIM:605750
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... ORPHA:860
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dystrophy, Abnorma... ORPHA:166035
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure ORPHA:49827
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia, Retinal flecks OMIM:136880
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615982
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Blindness OMIM:617914
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Hearing impairment, Retinal neovascularization, Myopia OMIM:619074
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Retinitis Pigmentosa
Abnormality of fundus pigmentation, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral vi... OMIM:268000
Cone-Rod Dystrophy 8
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... OMIM:605549
Osteopetrosis, Autosomal Recessive 1
Blindness, Facial palsy, Facial paralysis, Optic atrophy, Hearing impairment, Visual impairment OMIM:259700
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Hypermetropia, Protruding ear, Reduced visual acuity, Retinal detachment, Optic atrophy, Retinal ... OMIM:152950
Norrie Disease
Sensorineural hearing impairment, Retinal detachment, Optic atrophy, Retinal fold, Blindness, Ret... OMIM:310600
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... OMIM:610478
Myotonic Dystrophy 2
Palpitations, Tachycardia, Premature ventricular contraction, Right bundle branch block OMIM:602668
Retinitis Pigmentosa 60
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:613983
Primary Angiitis Of The Central Nervous System
Amaurosis fugax, Diplopia, Reduced visual acuity, Blurred vision, Pseudopapilledema, Vertigo, Abn... ORPHA:140989
Hyperostosis Cranialis Interna
Sensorineural hearing impairment, Reduced visual acuity, Tinnitus, Optic atrophy, Vestibular dysf... OMIM:144755
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... OMIM:210370
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Joubert Syndrome With Oculorenal Defect
Blindness, Low-set, posteriorly rotated ears, Retinal dystrophy, Visual impairment, Aganglionic m... ORPHA:2318
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... OMIM:201050
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Protruding ear, Blindness OMIM:618731
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Diffuse cerebellar atrophy, EEG abnormality, Cerebral atrophy, Abnorma... ORPHA:480898
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Isolated Optic Nerve Hypoplasia/Aplasia
EEG abnormality, Optic nerve hypoplasia, Reduced visual acuity, Abnormal best corrected visual ac... ORPHA:137902
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, R... OMIM:618173
Neurofibromatosis Type 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Diplopia, Bilateral ve... ORPHA:637
Cranioectodermal Dysplasia 4
Hypermetropia, Protruding ear, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:614378
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Congenital blindness, Retinal detachment, Moderately reduced visual ... ORPHA:2788
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Cone-Rod Dystrophy 20