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:
E430014N10Rik,  NBC3,  NBCn1

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
Visual loss, Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness, Hearing impairment, Cochlear degeneration OMIM:271250
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Hearing impairment, Optic atrophy, Severely reduced visual acuity OMIM:309555
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Retinitis Pigmentosa Inversa With Deafness
Blindness, Sensorineural hearing impairment, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Usher Syndrome, Type Iid
Blindness, Hearing impairment, Rod-cone dystrophy OMIM:611383
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Infantile sensorineural hearing impairment, Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Mohr-Tranebjaerg Syndrome
Visual loss, Vestibular dysfunction, Global brain atrophy, Central scotoma, Caudate atrophy, Colo... ORPHA:52368
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Usher Syndrome Type 1
Visual loss, Nyctalopia, Scotoma, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensor... ORPHA:231169
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spinocerebellar atrophy, Blindness, Hearing impairment, Optic atrophy ORPHA:95433
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Usher Syndrome Type 3
Nyctalopia, Visual loss, Scotoma, Sensorineural hearing impairment, High hypermetropia, Abnormal ... ORPHA:231183
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Scotoma, Hearing impairment, Optic atrophy, Optic disc pallor OMIM:165300
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Blindness, Cerebellar a... OMIM:610951
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Variegate Porphyria
Tachycardia OMIM:176200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Reduced visual acuity, Central scotoma, Centrocecal... OMIM:125250
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment, Bull's eye maculopathy, Optic disc pal... OMIM:616170
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Optic Atrophy 8
Visual loss, Prolonged somatosensory evoked potentials, Central scotoma, Abnormality of pattern v... OMIM:616648
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Nathalie Syndrome
Arrhythmia ORPHA:2663
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Hearing impairment, EEG abnormality, Visual impai... ORPHA:141
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Usher Syndrome, Type Iiia
Nyctalopia, Vestibular dysfunction, Reduced visual acuity, Visual field defect, Sensorineural hea... OMIM:276902
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive sensorineural hearing impairment, Visual loss, Blindness, Sensorineural hearing impai... OMIM:601338
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Nyctalopia, Retinal atrophy, Retinal degeneration, ... OMIM:618144
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Nyctalopia, Conductive hearing impairment, Choriore... OMIM:303110
Narp Syndrome
Retinal pigment epithelial mottling, Abnormal visual field test, Cerebral cortical atrophy, Heari... ORPHA:644
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Usher Syndrome, Type 1M
Nyctalopia, Vestibular dysfunction, Prelingual sensorineural hearing impairment, Drusen, Optic di... OMIM:618632
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Blindness, Sensorineural hearing impairment, Fundu... OMIM:204000
Night Blindness, Congenital Stationary, Type 1G
Blindness, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Alpha-Ketoglutarate Dehydrogenase Deficiency
Congenital lactic acidosis, Increased serum lactate, Metabolic acidosis OMIM:203740
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness, Hearing impairment OMIM:302700
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased serum lactate, Metabolic acidosis OMIM:615158
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Conductive hearing impairment, Progressive night blindness, ... ORPHA:791
Leukodystrophy, Hypomyelinating, 14
Blindness, Hearing impairment, Cerebral atrophy, Cerebellar atrophy OMIM:617899
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Stargardt Disease 3
Macular atrophy, Macular flecks, Reduced visual acuity, Visual impairment, Macular dystrophy OMIM:600110
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Blindness, Increased neuronal autofluorescent lipopigment... OMIM:256730
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Krabbe Disease
Neurodegeneration, Blindness, Hearing impairment, EEG abnormality, Diffuse cerebral atrophy, Decr... OMIM:245200
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Visual im... OMIM:607921
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Corticospinal tract atrophy, Retinopathy, Rod-con... OMIM:551500
Leber Congenital Amaurosis 4
Macular atrophy, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/co... OMIM:604393
Sandhoff Disease
Blindness, Hearing impairment, Cherry red spot of the macula ORPHA:796
Tiglic Acidemia
Acidosis OMIM:275190
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity OMIM:617111
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Blindness, Increased neuro... OMIM:204200
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Xylosidase Deficiency
Blindness, Hearing impairment, Hypsarrhythmia OMIM:278900
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Visual acuity test abnormality, Bilateral sensorineural hearin... ORPHA:1435
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Central scotoma, Retinal pigment... OMIM:608051
Retinitis Pigmentosa 80
Macular atrophy, Blindness, Progressive visual loss OMIM:617781
Retinitis Pigmentosa 33
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Visual impa... OMIM:610359
Abcd Syndrome
Hypopigmentation of the fundus, Hearing impairment, Abnormal auditory evoked potentials, Aganglio... OMIM:600501
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Reduced visual acuity, Moderately reduced visual acuity, Drusen... OMIM:616151
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Visual impairment, Macular... OMIM:153700
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Spastic Paraplegia 81, Autosomal Recessive
Reduced visual acuity, Sensorineural hearing impairment, Cerebral visual impairment, Optic atroph... OMIM:618768
Retinitis Pigmentosa 76
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Cystoid macular edema... OMIM:617123
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Retinitis Pigmentosa 78
Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic d... OMIM:617433
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Retinitis Pigmentosa 38
Macular atrophy, Nyctalopia, Peripheral retinal atrophy, Progressive visual loss, Rod-cone dystro... OMIM:613862
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Microphthalmia, Isolated 5
Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visual acuity, Retinal pigment epithel... OMIM:611040
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Nanophthalmos 4
Optic disc drusen, Visual impairment, Reduced visual acuity OMIM:615972
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Reduced visual acuity, Visual field defect, Cerebral visual impairment, Visual impairment, Optic ... OMIM:615722
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Reduced visual acuity, Central scotoma, Moderately reduced visu... OMIM:616152
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Nyctalopia, Chorioretinal atrophy, Blindnes... OMIM:613750
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Myopia, Progressive night blindness, Blindnes... ORPHA:414
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia, Rod-cone dystrophy, Optic disc pallor OMIM:614494
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Optic Atrophy 7 With Or Without Auditory Neuropathy
Reduced visual acuity, Central scotoma, Dyschromatopsia, Sensorineural hearing impairment, Constr... OMIM:612989
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Macular Dystrophy, Retinal, 3
Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Color vision defect, ... OMIM:608850
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Reduced visual acuity, Patent ductus arteriosus, Low-set ears, Sensorineural hearing impairment, ... OMIM:122430
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Optic Pathway Glioma
Visual loss, Vertigo, Reduced visual acuity, Visual field defect, Papilledema, Blindness, Optic a... ORPHA:2086
Retinitis Pigmentosa 50
Nyctalopia, Retinal flecks, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal ... OMIM:613194
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Renal Tubular Acidosis, Proximal
Renal tubular acidosis, Proximal renal tubular acidosis, Hyperchloremic acidosis OMIM:179830
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Norrie Disease
Retinal dysplasia, Blindness, Sensorineural hearing impairment, Retinal detachment, Optic atrophy... OMIM:310600
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity, Macular dystrophy OMIM:601553
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Macrotia, Progressive night blindness, Attached earlobe, Low-set ears, Patchy atrophy of the reti... ORPHA:436245
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616394
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Blindness, Abnormal retinal vascular ... ORPHA:90050
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Cerebral ... OMIM:617519
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Congenital blindness, Retinal dystrophy, Photophobia, Rod-cone... OMIM:613341
Retinitis Pigmentosa 62
Nyctalopia, Visual field defect, Rod-cone dystrophy, Optic disc pallor OMIM:614181
Succinic Acidemia
Lactic acidosis OMIM:600335
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Nyctalopia, Central scotoma, Retinal dystrophy, Photophobia, Optic disc pallor OMIM:616079
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Nyctalopia, Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, Myopia, Abnor... ORPHA:1390
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Optic Atrophy 9
Reduced visual acuity, Paracentral scotoma, Visual impairment, Red-green dyschromatopsia, Optic a... OMIM:616289
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Sarcosinemia
Congenital blindness, Optic atrophy, Infantile sensorineural hearing impairment ORPHA:3129
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Wolfram Syndrome, Mitochondrial Form
Blindness, Optic atrophy, Sensorineural hearing impairment, Abnormal autonomic nervous system phy... OMIM:598500
Retinitis Pigmentosa 70
Nyctalopia, Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Atten... ORPHA:52427
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Jalili Syndrome
Nyctalopia, Cone/cone-rod dystrophy, Monochromacy, Photophobia, Optic disc pallor OMIM:217080
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Dyschromatopsia, Photophobia, Optic atrophy,... OMIM:618977
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Reduced visual acuity, Central scotoma, Central retinal vessel vascula... OMIM:619382
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy, Sensorineural hearing impairment, Visual impairment, Reduced visual acuity OMIM:270500
Canavan Disease
Blindness, Hearing impairment, Optic atrophy, Brain atrophy OMIM:271900
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod... OMIM:606068
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cystoid macular edema, B... OMIM:618826
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual impairment, Photophobia, Optic disc pallor OMIM:614186
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Visual field defect, Reduced visual acuity OMIM:611543
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br... OMIM:619260
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:601493
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Optic Atrophy 11
Facial diplegia, Macrotia, Myopia, Brain atrophy, Amblyopia, Hearing impairment, Visual impairmen... OMIM:617302
Retinitis Pigmentosa 79
Macular atrophy, Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Phot... OMIM:617460
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Central Retinal Vein Occlusion
Visual loss, Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Ret... ORPHA:411527
Retinal Capillary Malformation
Retinal capillary hemangioma, Reduced visual acuity, Myopia, Epiretinal membrane, Blurred vision,... ORPHA:71213
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Cone/cone-rod dystrophy, Co... OMIM:300476
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Fundus atrophy, Bone spicule... OMIM:613428
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Retinitis Pigmentosa 47
Nyctalopia, Pigmentary retinopathy, Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy OMIM:613758
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials,... OMIM:601455
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Moyamoya Disease
Telangiectasia ORPHA:2573
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Retinitis Pigmentosa 90
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Attenuation of retina... OMIM:619007
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Infantile Refsum Disease
Nyctalopia, Hearing impairment, Sensorineural hearing impairment, Facial palsy, Constriction of p... ORPHA:772
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Progressive visua... ORPHA:180
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:613424
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Macular Degeneration, X-Linked Atrophic
Macular degeneration, Reduced visual acuity OMIM:300834
Retinitis Pigmentosa 61
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Bone spicule pigmentation of... OMIM:614180
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Reduced visual acuity, Visual field defect, Visual impairment, ... OMIM:153840
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Blindness, Pro... ORPHA:1187
Hsd10 Disease, Infantile Type
Visual loss, Cerebral atrophy, Neurodegeneration, Retinal degeneration, Frontotemporal cerebral a... ORPHA:391428
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Irvan Syndrome
Tractional retinal detachment, Reduced visual acuity, Blurred vision, Vitreous floaters, Retinal ... ORPHA:209943
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Atypical Pantothenate Kinase-Associated Neurodegeneration
Blindness, Optic atrophy, Retinopathy ORPHA:216873
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:300578
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Color vision defect, Photophobia, Blind-spot enlargment, ... OMIM:616732
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Leber Congenital Amaurosis 15
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Color vision defect, Constricti... OMIM:613843
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Retinitis Pigmentosa 13
Nyctalopia, Cystoid macular edema, Retinal degeneration, Hypopigmentation of the fundus, Constric... OMIM:600059
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Retinitis Pigmentosa 35
Cone/cone-rod dystrophy, Blindness, Nyctalopia, Rod-cone dystrophy OMIM:610282
Leber Congenital Amaurosis 9
Nyctalopia, Attenuation of retinal blood vessels, Macular coloboma, Hypermetropia, Photophobia, O... OMIM:608553
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Foveoschisis, Mildly reduced visual acuity, Hypermetropia, Rod-cone dyst... OMIM:268080
Spastic Paraplegia 55, Autosomal Recessive
Central scotoma, Optic atrophy, Visual impairment, Reduced visual acuity OMIM:615035
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect,... OMIM:612657
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cone-Rod Dystrophy 21
Macular atrophy, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Photophobia OMIM:616502
Madras Motor Neuron Disease
Reduced visual acuity, Sensorineural hearing impairment, Facial palsy, Visual impairment, Optic a... ORPHA:137867
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Retinitis Pigmentosa 20
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Visual impairme... OMIM:613794
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Early-Onset X-Linked Optic Atrophy
Reduced visual acuity, Central scotoma, Color vision defect, Progressive visual loss, Decreased n... ORPHA:98890
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, EEG with spike-wave complexes, EEG with series of focal spikes, Corpus callosum atro... ORPHA:168491
Bardet-Biedl Syndrome 21
Retinal atrophy, Myopia, Retinal thinning, Cone/cone-rod dystrophy, Blindness, Constriction of pe... OMIM:617406
Paragangliomas 6
Hypertension OMIM:618464
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Photophobia, Macular degener... OMIM:600977
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Reduced visual acuity, Peripapillary atrophy, Abnormal flash visual evoked ... OMIM:618195
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Macrotia, Abnormality of the pinna, Brain atrophy, Blindness, Optic ... ORPHA:3078
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dy... OMIM:610024
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Aica-Ribosuria Due To Atic Deficiency
Low-set ears, Congenital blindness, Optic atrophy OMIM:608688
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Usher Syndrome
Vestibular areflexia, Abnormality of retinal pigmentation, Nyctalopia, Vestibular dysfunction, Vi... ORPHA:886
Cone-Rod Dystrophy 13
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Photophob... OMIM:608194
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Retinal dystrophy, Color vision defect, Visual impairment OMIM:607476
Achromatopsia 7
Macular atrophy, Absent foveal reflex, Reduced visual acuity, Central scotoma, Achromatopsia, Pho... OMIM:616517
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal pigment epithelial atrophy, Myopia, Retinal dystrophy, Retinal det... OMIM:616188
Albers-Schönberg Osteopetrosis
Blindness, Hearing impairment, Facial palsy, Visual impairment, Optic atrophy ORPHA:53
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 9
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Constriction of peripheral ... OMIM:180104
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Optic atrophy, Sensorineural hearing impairment ORPHA:99947
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Leber Congenital Amaurosis
Hearing impairment, Abnormality of retinal pigmentation, Severely reduced visual acuity, Abnormal... ORPHA:65
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Lactic acidosis, Ketoacidosis, Episodic ketoacidosis, Increased serum lactate OMIM:615453
Retinitis Pigmentosa 2
Nyctalopia, Pigmentary retinopathy, Myopia, Chorioretinal degeneration, Constriction of periphera... OMIM:312600
Retinitis Pigmentosa 18
Nyctalopia, Scotoma, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Usher Syndrome Type 2
Visual loss, Nyctalopia, Scotoma, Myopia, Subcortical cerebral atrophy, Cerebral cortical atrophy... ORPHA:231178
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Cerebral atrophy, Neurodegeneration, Hearing impairment, Abnormality of visual evoke... OMIM:256600
Juvenile Neuronal Ceroid Lipofuscinosis
Visual loss, Interictal EEG abnormality, Pigmentary retinopathy, Cerebral atrophy, Retinal degene... ORPHA:79264
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Macular Dystrophy, Retinal, 1, North Carolina Type
Reduced visual acuity, Central scotoma, Peripheral retinal atrophy, Abnormality of macular pigmen... OMIM:136550
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Cone Dystrophy 3
Macular atrophy, Reduced visual acuity, Cone/cone-rod dystrophy, Progressive visual loss, Photoph... OMIM:602093
Retinitis Pigmentosa 41
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Severely reduced visual... OMIM:612095
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Choroideremia
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303100
Posterior Column Ataxia With Retinitis Pigmentosa
Nyctalopia, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of r... OMIM:609033
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmi... ORPHA:206443
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia OMIM:603284
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Central scotoma, Tinnitus, Color vision defect, Slow d... OMIM:601152
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Low-set ears, Sensorineural hearing impairment, EEG abnormality, Optic atrophy, Abnormali... ORPHA:2971
Retinal Cone Dystrophy 3B
Macular atrophy, Nyctalopia, Scotoma, Myopia, Cone/cone-rod dystrophy, Photophobia OMIM:610356
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of the ret... OMIM:180100
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Cinca Syndrome
Retrobulbar optic neuritis, Pseudopapilledema, Hearing impairment, Sensorineural hearing impairme... ORPHA:1451
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, High-frequency sensorineural hearing impairment, Reduced visual acuity OMIM:618358
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Nyctalopia, Pigmentary retinopathy, Abnormality of chorioretinal pi... OMIM:193220
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Retinal degeneration, Reduced visual acuity OMIM:617879
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Nyctalopia, Cystoid macular degeneration, Retinal degeneration, Constriction of ... OMIM:267760
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Reduced visua... OMIM:601813
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field ... OMIM:613756
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Reduced visual acuity, Vitreous hemorrhage, ... OMIM:133780
Retinitis Pigmentosa 6
Nyctalopia, Pigmentary retinopathy, Chorioretinal degeneration, Constriction of peripheral visual... OMIM:312612
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 58
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Peripheral visu... OMIM:613617
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Refsum Disease, Classic
Nyctalopia, Sensorineural hearing impairment, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Amblyopia, Hearing impairment, Opt... ORPHA:207
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Aborted sudden cardiac death, Tachycardia, Dilated cardiomyopathy OMIM:614921
Infantile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Blindness, Hearing impairment, Diffu... ORPHA:206436
Idiopathic Uveal Effusion Syndrome
Retinal fold, Metamorphopsia, Reduced visual acuity, Visual field defect, Blurred vision, Subreti... ORPHA:209956
Optic Atrophy-Intellectual Disability Syndrome
Reduced visual acuity, Optic disc hypoplasia, Visual field defect, Myopia, Amblyopia, Hearing imp... ORPHA:401777
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Hearing impairment, Pigmentary retinopathy OMIM:560000
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Left... OMIM:604169
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Interictal EEG abnormality, Cerebral atrophy, Progressive visual field defects, Brai... ORPHA:79263
Tritanopia
Photophobia, Reduced visual acuity, Abnormal retinal morphology, Tritanomaly, Color vision test a... ORPHA:88629
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Retinitis Pigmentosa 86
Nyctalopia, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retina... OMIM:618613
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Abnormality of macular pigmentation, Visua... OMIM:303700
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Blindness, Optic nerve hypoplasia, Myopia, Retinal detachment OMIM:615181
Cone Dystrophy 4
Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment, Photophobia OMIM:613093
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Visual impairment, Reduced visual acuity OMIM:258501
Stickler Syndrome, Type I
Membranous vitreous appearance, Conductive hearing impairment, Myopia, Blindness, Sensorineural h... OMIM:108300
Retinitis Pigmentosa 10
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Geographic atrophy, B... OMIM:180105
Hyperostosis Cranialis Interna
Vestibular dysfunction, Reduced visual acuity, Sensorineural hearing impairment, Facial palsy, Op... OMIM:144755
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Retinitis Pigmentosa 14
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Retinal arteriolar co... OMIM:600132
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Blindness, Vitreoretinopathy, Abnormality of the optic disc, Retinal vascu... ORPHA:440727
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Blindness, Vitreoretin... OMIM:193235
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Reduced visual acuity, Retinal exudat... OMIM:613310
Retinitis Pigmentosa 66
Nyctalopia, Reduced visual acuity, Central scotoma, Constriction of peripheral visual field, Visu... OMIM:615233
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Sensorineural hearing imp... ORPHA:773
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Attenuation of retinal blood vessels, Abnormality of the optic nerve, Absent retinal ... ORPHA:436274
Retinitis Pigmentosa 56
Nyctalopia, Pigmentary retinopathy, Reduced visual acuity, Attenuation of retinal blood vessels, ... OMIM:613581
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness, Cerebral cortical atrophy, Hearing impairment, Vertigo ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Visual impairment, Reduced visual acuity OMIM:614947
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Retinitis Pigmentosa 73
Nyctalopia, Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Patent ductus arteriosus... OMIM:615147
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Reduced visual acuity, Retinal exudate, Retinal detach... OMIM:605750
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Retinitis Pigmentosa 43
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field... OMIM:613810
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:609040
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Reduced visual acuity, Myopia, Prot... OMIM:152950
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Autosomal Recessive Stickler Syndrome
Myopia, Amblyopia, Sensorineural hearing impairment, Vitreoretinopathy, Retinal detachment ORPHA:250984
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Retinitis Pigmentosa 12
Nyctalopia, Rod-cone dystrophy OMIM:600105
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Retinal flecks, Reduced visual acuity OMIM:611809
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Blindness, Hearing impairment, Facial palsy, Visual impairment, Optic atrophy OMIM:259700
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Joubert Syndrome 35
Low-set ears, Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Retinitis Pigmentosa 60
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:613983
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cerebral atrophy, Patent ductus arteriosus, Low-set ears, High myopia, Hearing impairment, Sensor... OMIM:220500
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus, Retinal flecks OMIM:136880
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Reduced visual acuity, Subreti... OMIM:305390
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Abnormality of the opti... OMIM:605549
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Low-set, posteriorly rotated ears, Aganglionic megacolon, Retinal dystrop... ORPHA:2318
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Leukoencephalopathy With Vanishing White Matter
Blindness, Optic atrophy OMIM:603896
Primary Angiitis Of The Central Nervous System
Diplopia, Vertigo, Reduced visual acuity, Abnormal visual field test, Blurred vision, Pseudopapil... ORPHA:140989
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Macrotia, Visual field defect, Retinal degeneration, Low-set ears, Abnormality of pat... ORPHA:166035
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment, Myopia OMIM:619074
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Stenosis of the external au... OMIM:113650
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Retinitis Pigmentosa 72
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Peripapi... OMIM:616469
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone... OMIM:268000
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Diffuse cerebellar atrophy, Cerebral atrophy, Myopia, Abnormality of the... ORPHA:480898
Distal Monosomy 10Q
Cochlear malformation, Patent ductus arteriosus, Myopia, Abnormality of the outer ear, Morphologi... ORPHA:96148
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Bardet-Biedl Syndrome 5
Reduced visual acuity, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Sturge-Weber Syndrome
Hemianopia, Abnormality of vision, Abnormal choroid morphology, Cerebral cortical atrophy, Blindn... ORPHA:3205
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Neurofibromatosis Type 2
Visual loss, Remnants of the hyaloid vascular system, Diplopia, Bilateral vestibular Schwannoma, ... ORPHA:637
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Reduced visual acuity, Optic disc hypoplasia, Peripheral vitreous opaciti... ORPHA:137902
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Microphthalmia, Isolated, With Coloboma 9
Reduced visual acuity, Macrotia, Low-set ears, Visual impairment, Retinal detachment OMIM:615145
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Retinitis Pigmentosa 83
Asteroid hyalosis, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cysto... OMIM:618173
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness, Protruding ear OMIM:618731
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Momo Syndrome
Retinal coloboma, Blindness, Underfolded helix OMIM:157980
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Reduced visual acuity OMIM:217400
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Congenital blindness, Severely r... ORPHA:2788
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Cone-Rod Dystrophy 20
Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect, Constrictio... OMIM:615973
Tularemia
Tachycardia ORPHA:3392
Paragangliomas 4
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:115310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Congenital Disorder Of Glycosylation, Type In
Sensorineural hearing impairment, Reduced visual acuity OMIM:612015
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis OMIM:204730
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Blindness, Optic nerve dysplasia OMIM:615287
Coenzyme Q10 Deficiency, Primary, 5