Gene Summary

Name:
RAB3 GTPase activating protein subunit 2
Synonyms:
1110059F07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Rab3gap2tm1b(KOMP)Wtsi HOM   Early adult 5.33×10-06
narrow eye opening Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 5.68×10-06
abnormal optic disk morphology Rab3gap2tm1b(KOMP)Wtsi HOM   Early adult 5.23×10-05
prolonged RR interval Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.03×10-05
abnormal snout morphology Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.97×10-07
decreased heart rate Rab3gap2tm1b(KOMP)Wtsi HOM Early adult 1.09×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote Ambiguous
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote Ambiguous
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote Ambiguous
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

18 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Rab3gap2 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.

The table below shows human diseases associated to Rab3gap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma, Short nose, Wide nasal bridge ORPHA:2510
Warburg Micro Syndrome 2
Optic atrophy, Short nose OMIM:614225
Martsolf Syndrome 1
Epicanthus, Cardiomyopathy, Downslanted palpebral fissures, Cardiac arrest, Congestive heart failure OMIM:212720
Cataract-Intellectual Disability-Hypogonadism Syndrome
ORPHA:1387
Autosomal Recessive Spastic Paraplegia Type 69
ORPHA:401830

The table below shows human diseases predicted to be associated to Rab3gap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613582
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis OMIM:311050
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia, Optic atrophy OMIM:136600
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Dysdiadochokinesis, Spastic ataxia OMIM:108650
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Intracranial Hypertension, Idiopathic
Hypertension, Papilledema OMIM:243200
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Inability to walk OMIM:615658
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Difficulty walking OMIM:617087
Leber Hereditary Optic Neuropathy
Optic atrophy, Ventricular preexcitation, Retinal telangiectasia, Ataxia, Retinal vascular tortuo... ORPHA:104
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Unilateral ptosis OMIM:300928
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Ceroid Lipofuscinosis, Neuronal, 9
Ataxia, Optic atrophy, Rod-cone dystrophy OMIM:609055
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic ataxia OMIM:613672
Immunodeficiency 8
Hyperactivity OMIM:615401
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Inability to walk OMIM:618572
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Arrhythmia, Limb dystonia OMIM:614860
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Optic Atrophy 5
Optic atrophy OMIM:610708
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Chorioretinal coloboma, Optic atrophy ORPHA:2732
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Retinal dystrophy, Optic atrophy OMIM:614706
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Ataxia, Optic atrophy, Spastic ataxia ORPHA:2572
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus s... ORPHA:542306
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Ataxia, Limb ataxia, Gait ataxia OMIM:614322
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, P... OMIM:616394
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Ptosis, Cardiomyopathy, Bradycardia, Sensory axonal neuropathy, Arrhythmia OMIM:609286
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Ptosis OMIM:608747
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Leber Optic Atrophy
Leber optic atrophy, Dystonia, Optic atrophy, Optic neuropathy, Ataxia, Central retinal vessel va... OMIM:535000
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Hemidystonia, Spastic gait, Bradykinesia OMIM:619052
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Peripheral demyelination, Optic atrophy, Optic neuritis OMIM:165200
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Atrioventricular block, Bradycardia, Truncal ataxia, Long eyebrows OMIM:614407
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Ataxia, Ina... OMIM:619389
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Idiopathic Congenital Hypothyroidism
Bradycardia, Lethargy ORPHA:95717
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Spasticity, Childhood-Onset, With Hyperglycinemia
Gait disturbance, Optic atrophy, Spastic ataxia OMIM:616859
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Usher Syndrome, Type Iiib
Ataxia, Optic disc pallor, Truncal ataxia OMIM:614504
Infantile-Onset Spinocerebellar Ataxia
Ataxia, Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Xq25 Microduplication Syndrome
Highly arched eyebrow, Abnormality of the palpebral fissures, Epicanthus, Sparse eyebrow, Hyperac... ORPHA:521258
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Ataxia, Wolff-Parkinson-White syndrome, Optic atrophy OMIM:614947
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy OMIM:271930
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Optic atrophy, Long eyelashes, Wide nasal bridge, Long palpebral fissure ORPHA:411493
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Epicanthus, Sparse eyebrow, Hyperactivity, Thick eyebrow OMIM:300979
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Neurodegeneration With Brain Iron Accumulation
Dystonia, Optic atrophy, Retinopathy ORPHA:385
Joubert Syndrome 28
Highly arched eyebrow, Optic disc pallor, Wide nasal bridge, Ataxia, Pigmentary retinopathy OMIM:617121
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Epicanthus, Bradycardia, Antecubital pterygium, Aplasia/Hypo... ORPHA:40366
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy, Inability to walk ORPHA:431329
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Wide nasal bridge, Ataxia, Optic atrophy OMIM:300983
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Gait disturbance, Optic atrophy, Ataxia, Craniofacial dystonia OMIM:617282
Atrial Fibrillation, Familial, 4
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... OMIM:611493
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Palpitations, Atrioventricular block, Loss of ability to walk, Diffic... OMIM:616812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Leukodystrophy, Hypomyelinating, 13
Ataxia, Optic atrophy OMIM:616881
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Spastic gait ORPHA:320396
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Lamb-Shaffer Syndrome
Optic atrophy, Wide nasal bridge, Epicanthus, Downslanted palpebral fissures OMIM:616803
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia OMIM:611726
Camos Syndrome
Ataxia, Optic atrophy ORPHA:83472
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Aminoacylase 1 Deficiency
Hyperactivity, Wide nasal bridge OMIM:609924
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy, Steppage gait, Difficulty walking OMIM:615035
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Absent eyebrow, Bradycardia, Paroxysmal supraventricular tachycardia, Short eye... OMIM:601375
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Optic atrophy, Lethargy OMIM:618228
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Dystonia, Arrhythmia, Optic atrophy OMIM:614702
Ceroid Lipofuscinosis, Neuronal, 7
Pigmentary retinopathy, Ataxia, Optic atrophy, Retinopathy OMIM:610951
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Optic atrophy ORPHA:1171
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Epicanthus, Wide nasal bridge, Downslanted palpebral fissures, Hyperactivity OMIM:618342
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Paroxysmal atrial tachycardia, Retinal dystrophy, Cardiac arrest, Congestive heart... ORPHA:49827
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Epicanthus ORPHA:85288
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Clark-Baraitser Syndrome
Narrow palpebral fissure, Upslanted palpebral fissure, Short nose, Epicanthus, Hyperactivity OMIM:617752
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Gait disturbance, Optic atrophy, Rod-cone dystrophy, Segmental peripheral d... OMIM:311070
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Spastic ataxia ORPHA:496756
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Merrf
Ataxia, Optic atrophy ORPHA:551
Glutamine Deficiency, Congenital
Wide nasal bridge, Short nose, Bradycardia OMIM:610015
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy, Difficulty walking ORPHA:468661
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia, Downslanted palpebral fissures OMIM:192445
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk OMIM:617830
Morm Syndrome
Hyperactivity, Retinal dystrophy, Retinal atrophy ORPHA:75858
Alazami-Yuan Syndrome
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617126
Nescav Syndrome
Optic atrophy, Inability to walk, Peripheral axonal neuropathy OMIM:614255
Coffin-Siris Syndrome 8
Thick eyebrow, Hyperactivity, Long eyelashes, Ptosis OMIM:618362
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Blepharonasofacial Malformation Syndrome
Optic atrophy, Sparse lateral eyebrow, Epicanthus, Telecanthus, Wide nasal bridge, Torsion dyston... ORPHA:1252
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic gait OMIM:613162
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Optic atrophy, Prolonged QT interval, Noncompaction cardiomyopathy, Nonpr... OMIM:610198
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Optic atrophy, Bilateral ptosis, Sensory axonal neuropathy ORPHA:329314
Tetanus
Hypertension, Bradycardia, Tachycardia, Autonomic bladder dysfunction, Abnormal autonomic nervous... ORPHA:3299
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dystonia, Optic atrophy, Dysmetria, Truncal ataxia, Episodic ataxia, Gait ataxia OMIM:601338
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait a... ORPHA:98890
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Bilateral ptosis, Motor axonal neuropathy, Absent brai... ORPHA:1215
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morpho... ORPHA:1021
Gand Syndrome
Hyperactivity, Narrow palpebral fissure, Wide nasal bridge, Blepharophimosis OMIM:615074
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Optic atrophy ORPHA:85297
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Upslanted palpebral fis... OMIM:617183
Cednik Syndrome
Optic atrophy, Downslanted palpebral fissures, Ataxia, Congestive heart failure, Abnormality of p... ORPHA:66631
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Timothy Syndrome
Prolonged QT interval, Bradycardia OMIM:601005
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Optic atrophy, Bilateral ptosis, Inability to walk, Oculogyric crisis, Difficulty walking ORPHA:330050
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Bradycardia, Decreased nerve conduction velocity, Loss of ability to walk, Tip... ORPHA:565624
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Gait ataxia OMIM:619323
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Distichiasis OMIM:126320
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Ptosis, Shuffling gait, Cardiomyopathy, Bradykinesia, Optic neuritis, Sensory axon... ORPHA:254886
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Gait disturbance, Ataxia, Optic atrophy ORPHA:3151
Glossopharyngeal Neuralgia
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Schw... ORPHA:221098
Behr Syndrome
Dysmetria, Gait disturbance, Ataxia, Optic atrophy OMIM:210000
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Ataxia, Retinal degeneration, Optic atrophy, Bilateral ptosis OMIM:214980
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Optic atrophy, Wide nasal bridge, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Illum Syndrome
Bradycardia OMIM:208155
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Ataxia, Optic disc pallor, Retinal thinning OMIM:618970
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Macular degeneration OMIM:618195
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Craniodiaphyseal Dysplasia
Optic atrophy, Wide nasal bridge ORPHA:1513
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Peho-Like Syndrome
Optic atrophy, Short nose, Epicanthus OMIM:617507
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait OMIM:619470
Gm1-Gangliosidosis, Type Ii
Gait disturbance, Ataxia, Optic atrophy OMIM:230600
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Familial Thyroid Dyshormonogenesis
Bradycardia, Lethargy ORPHA:95716
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Epicanthus OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Dystonia, Cardiomyopathy, Lethargy ORPHA:26792
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Ataxia, Peripheral axonal neuropathy, Difficulty walking OMIM:619425
Fraxe Intellectual Disability
Hyperactivity, Epicanthus ORPHA:100973
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Developmental And Epileptic Encephalopathy 16
Dystonia, Optic atrophy OMIM:615338
Atypical Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Optic atrophy, Oromandibular dystonia, Focal dystonia, Retinopathy, Limb dystonia ORPHA:216873
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Dystonia, Hypertrophic cardiomyopathy, Optic atrophy, Ptosis, Ataxia, Pig... OMIM:252011
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Leber Congenital Amaurosis 14
Retinal dystrophy, Optic disc pallor, Falls, Rod-cone dystrophy OMIM:613341
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy OMIM:616171
Optic Atrophy 6
Optic atrophy OMIM:258500
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Riboflavin Transporter Deficiency
Hypertension, Optic disc pallor, Abnormal cranial nerve morphology, Ptosis, Facial palsy, Ataxia,... ORPHA:97229
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Optic disc pallor, Progressive truncal ataxia, Ptosis, Dysmetria, Progressive gait ataxia, Progre... ORPHA:363429
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormality of the optic nerve, Aplasia/Hypoplasia of the macula, Macular dystroph... ORPHA:33445
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ptosis, Ataxia OMIM:125250
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema, Wide nasal bridge OMIM:122860
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Dystonia, Optic atrophy, Ptosis, Progressive cerebellar ataxia, Pigm... ORPHA:255241
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Rod-cone dystrophy, Macular degeneration OMIM:204200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Epicanthus OMIM:300434
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Inability to walk, Retinal vascular tortuosity OMIM:618768
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Highly arched eyebrow, Pulmonary arterial hypertension, Optic disc pallor OMIM:300887
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617773
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Peripheral axonal neuropathy, Ptosis, Ataxia, Difficulty walking ORPHA:401768
Sarcosinemia
Hypertrophic cardiomyopathy, Ataxia, Optic atrophy, Pulmonic stenosis ORPHA:3129
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Papilledema, Bradycardia OMIM:618775
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Ataxia, Optic disc pallor OMIM:616732
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Epicanthus, Wide nasal brid... ORPHA:352490
Variegate Porphyria
Tachycardia OMIM:176200
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Optic atrophy, Ptosis, Ataxia, Lethargy OMIM:618226
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Dystonia, Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory ax... ORPHA:457205
Jaberi-Elahi Syndrome
Dystonia, Optic atrophy, Sparse eyelashes, Dysmetria, Short nose, Sparse eyebrow, Inability to wa... OMIM:617988
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Dystonia, Optic atrophy, Epicanthus, Ataxia, Unsteady gait OMIM:245349
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Short nose, Upslanted palpebral fissure, Synophrys OMIM:300143
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy, Inability to walk OMIM:617086
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Hyperactivity, Ataxia OMIM:617302
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Wide nasal bridge OMIM:616977
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Optic atrophy, Broad-based gait, Spastic ataxia OMIM:270500
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Lethargy ORPHA:391673
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Optic Atrophy 9
Optic atrophy OMIM:616289
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Synophrys OMIM:615541
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Retinal degeneration, Optic atrophy, Macular degeneration OMIM:256730
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Inability to walk OMIM:618324
Spinocerebellar Ataxia 7
Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebellar ataxia, Pigmentary retinop... OMIM:164500
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Mitral regurgitation, Ptosis, Steppage gait, Facial palsy, Bradykinesia, Cardiomyo... OMIM:258450
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormality of the optic disc, Retinal vascular tortuosity, Nasolacrimal duct ... ORPHA:440727
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... ORPHA:439232
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Abnormal autonomic nervous system physiology, Reduced ejection fract... ORPHA:85451
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608553
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Wide nasal bridge, Synophrys OMIM:613192
Multiple Mitochondrial Dysfunctions Syndrome 6
Dysmetria, Dystonia, Optic disc pallor, Ataxia OMIM:617954
Friedreich Ataxia
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Decreased sensory nerve cond... OMIM:229300
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Optic atrophy OMIM:258501
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Cone dystrophy OMIM:268040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Upslanted palpebral fissure, Short nose, Cardiomyopathy, Wide n... OMIM:618437
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:612989
Isolated Oxycephaly
Papilledema ORPHA:63440
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Epicanthus, Upslanted palpebral fissure, Synophrys OMIM:615824
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Ataxia, Lethargy OMIM:614299
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cardiomyopathy, Ataxia, Cone/cone-rod dystrophy, Arrhythmia OMIM:249270
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Mi... OMIM:616648
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Optic disc pallor, Downslanted palpebral fissures ORPHA:3173
Spinocerebellar Ataxia, Autosomal Recessive 18
Optic disc pallor, Dysmetria, Ataxia, Dysdiadochokinesis, Truncal ataxia, Gait ataxia OMIM:616204
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Optic atrophy, Ptosis OMIM:618238
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait OMIM:617865
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Abnormal nerve conduction velocity, Ataxia, Optic atrophy ORPHA:99014
Filippi Syndrome
Dystonia, Wide nasal bridge, Optic atrophy OMIM:272440
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Optic Atrophy 1
Ataxia, Optic atrophy OMIM:165500
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Dystonia, Peripheral demyelination, Optic atrophy OMIM:618237
Infantile Refsum Disease
Optic atrophy, Facial palsy, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Arrhythmia ORPHA:772
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Optic atrophy OMIM:617669
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral axonal neuropathy, Upslanted palpebral fis... ORPHA:496790
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Telecanthus, Blepharophimosis, Ptosis ORPHA:397973
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Ck Syndrome
Hyperactivity, Almond-shaped palpebral fissure, Epicanthus, Upslanted palpebral fissure ORPHA:251383
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Gait ataxia, Broad-based gait OMIM:258650
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Dystonia, Bradykinesia, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Dystonia, Ptosis, Ataxia, Retinopathy OMIM:619422
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Telecanthus, Upslanted palpebral fissure, Epicanthus OMIM:615286
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Spastic Paraplegia 2, X-Linked
Dysmetria, Optic atrophy, Spastic gait OMIM:312920
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Narrow palpebral fissure, Hyperactivity, Blepharophimosis, Arrhythmia OMIM:600430
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma, Ptosis ORPHA:1473
Woods Syndrome
Optic atrophy, Wide nasal bridge, Lingual dystonia OMIM:615236
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Spastic Paraplegia Type 2
Optic atrophy, Ataxia, Spastic gait, Pulmonary embolism ORPHA:99015
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... OMIM:605373
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Upslanted palpebral fissure, Thick eyebrow, Optic atrophy, Synophrys OMIM:618737
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Optic disc pallor, Rod-cone dystrophy, Inability to walk, Tip-toe gait, General... ORPHA:216866
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Upslanted palpebral fissure, Chorioretinal dysplasia, Epicanthus, Do... OMIM:152950
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia OMIM:613327
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Optic atrophy OMIM:618236
Spinocerebellar Ataxia 13
Optic atrophy, Limb dysmetria, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia OMIM:605259
Leber Optic Atrophy And Dystonia
Athetosis, Dystonia, Leber optic atrophy, Optic atrophy, Bradykinesia OMIM:500001
Jalili Syndrome
Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Ck Syndrome
Hyperactivity, Almond-shaped palpebral fissure, Epicanthus, Upslanted palpebral fissure OMIM:300831
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Proximal Spinal Muscular Atrophy
Facial diplegia, Inability to walk, Bradycardia, Difficulty walking ORPHA:70
Encephalitis Lethargica
Bradycardia, Lethargy ORPHA:83600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Aganglionic megacolon, Short nose, Tachycardia, Abnormal autonomic nervous system p... OMIM:613870
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
16P12.1P12.3 Triplication Syndrome
Short nose, Epicanthus, Tachycardia, Unilateral ptosis, Short palpebral fissure, Hyperactivity, T... ORPHA:485405
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Rubinstein-Taybi Syndrome 2
Hyperactivity, Long eyelashes, Downslanted palpebral fissures OMIM:613684
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Optic atrophy, Upslanted palpebral fissure, Short nose, Telecanthus,... OMIM:619383
Spinocerebellar Ataxia Type 1
Gait disturbance, Dystonia, Optic atrophy, Gait imbalance, Abnormality of somatosensory evoked po... ORPHA:98755
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Short nose, Epicanthus, Short palpebral fissure, Inability to walk, Blepharophimosis OMIM:613457
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Lethargy ORPHA:90673
Pontocerebellar Hypoplasia, Type 9
Optic atrophy, Peripheral axonal neuropathy, Downslanted palpebral fissures OMIM:615809
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Progressiv... ORPHA:644
Peroxisome Biogenesis Disorder 8B