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Gene: Gabra2 MGI:95614

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Gene Summary

Name:
gamma-aminobutyric acid type A receptor subunit alpha 2
Synonyms:
C630048P16Rik,  Gabra-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 8.37×10-07
prolonged RR interval Gabra2em1(IMPC)H HOM   Early adult 6.65×10-06
decreased locomotor activity Gabra2em1(IMPC)H HOM Early adult 9.45×10-09
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 4.42×10-05
trunk curl Gabra2em1(IMPC)H HOM Early adult 8.43×10-06
hyperactivity Gabra2em1(IMPC)H HOM   Early adult 1.96×10-11
decreased locomotor activity Gabra2em1(IMPC)H HOM   Late adult 2.72×10-05
decreased total body fat amount Gabra2em1(IMPC)H HOM Late adult 4.83×10-06
decreased exploration in new environment Gabra2em1(IMPC)H HOM Late adult 4.24×10-05
limb grasping Gabra2em1(IMPC)H HOM   Middle aged adult 9.59×10-05
increased anxiety-related response Gabra2em1(IMPC)H HOM Early adult 1.88×10-07
limb grasping Gabra2em1(IMPC)H HOM Early adult 2.65×10-09
decreased fasting circulating glucose level Gabra2em1(IMPC)H HOM Early adult 5.00×10-06
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.50×10-06
corneal opacity Gabra2em1(IMPC)H HOM Early adult 7.82×10-07
decreased heart rate Gabra2em1(IMPC)H HOM   Early adult 1.29×10-05
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 4.93×10-07
increased grip strength Gabra2em1(IMPC)H HOM Late adult 6.24×10-06
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 8.25×10-07

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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.

Echo

M-Mode Images

75 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Gabra2 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 Gabra2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alcohol Dependence
Addictive alcohol use OMIM:103780
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Difficulty walking, Tremor, Attention deficit hyperactivity disorder, Ataxi... ORPHA:442835
Developmental And Epileptic Encephalopathy 78
Inability to walk OMIM:618557

The table below shows human diseases predicted to be associated to Gabra2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dysto... OMIM:619565
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity ORPHA:3177
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Depression, Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia, Dementia, Dyspha... OMIM:609286
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Irritability, Premature ventri... OMIM:212138
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Hypertrophic cardiomyopathy, Irritability, Bradycardia, Cardiac arrest OMIM:618235
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Lethargy, Hyperinsulin... ORPHA:276608
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Congestive hear... ORPHA:3077
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Hypoketotic hypoglycemia, R... ORPHA:324575
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Bra... OMIM:618815
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Bradycardia OMIM:616276
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Bradycardia OMIM:620265
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Bradycardia, Truncal ataxia, Dystonia, Intention tre... OMIM:614407
Alcohol Dependence
Addictive alcohol use OMIM:103780
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthotonus, Attentio... ORPHA:216866
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypertrophic cardiomyopathy, Hyperinsu... ORPHA:276580
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, T... OMIM:128100
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Palpitations, Reac... ORPHA:276556
Mohr-Tranebjaerg Syndrome
Mental deterioration, Abnormal posturing, Tremor, Dystonia, Dysphagia OMIM:304700
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia, Hyperactivity OMIM:234500
Juvenile Huntington Disease
Broad-based gait, Depression, Bradykinesia, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dem... ORPHA:248111
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dystonia OMIM:301107
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hyperinsulinemia, Palpitations, Hypoketoti... ORPHA:276575
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Huntington Disease-Like 1
Memory impairment, Depression, Abnormal posturing, Gait ataxia, Dysmetria, Gait disturbance, Cogn... ORPHA:157941
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Dystonia, Bradycardia OMIM:616277
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Gómez-López-Hernández Syndrome
Ataxia, Cognitive impairment, Corneal opacity ORPHA:1532
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged P... ORPHA:542306
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Dystonia, Hypoglycemia, Bradycardia OMIM:614702
Galactosialidosis
Corneal opacity ORPHA:351
Trimethylaminuria
Tachycardia, Depression, Hypertension OMIM:602079
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Tetanus
Tremor, Hypertension, Opisthotonus, Bradycardia, Tachycardia, Dysphagia ORPHA:3299
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Gait ataxia, Aggressive ... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Phenylketonuria
Cataract, Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyper... OMIM:261600
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia OMIM:271310
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Bradykinesia, Short attention span, Gait ataxia, Titubation, ... ORPHA:225147
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Winchester Syndrome
Corneal opacity OMIM:277950
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Aggressive behavior, Attention deficit hy... OMIM:152950
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Wagro Syndrome
Cataract, Aniridia, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavio... OMIM:612469
Harel-Yoon Syndrome
Inability to walk, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Ataxia, ... OMIM:617183
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Lef... OMIM:261740
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Facial telangiectasia, Aggressive behavior, Attenti... OMIM:620141
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Glossopharyngeal Neuralgia
Depression, Oral-pharyngeal dysphagia, Syncope, Bradycardia, Jaw claudication ORPHA:221098
D-Glyceric Aciduria
Opisthotonus, Tongue thrusting, Hypoglycemia, Bradycardia OMIM:220120
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity ORPHA:577
Morquio Syndrome C
Corneal opacity OMIM:252300
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... OMIM:618718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia... ORPHA:411515
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Progressive psychomotor deterioration, Hyperinsulinemia, Limb dystonia, Gait ... ORPHA:363400
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Depression, Confusion, Corneal opacity, Ataxia ORPHA:309288
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Leg dystonia, Loss of ambulation, Bradycardia, Neonatal hypoglycemia ORPHA:565624
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Megalocorne... ORPHA:137675
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Emotional labili... OMIM:256800
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypogl... ORPHA:263455
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Ta... OMIM:613327
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Encephalitis Lethargica
Mental deterioration, Lethargy, Tremor, Bradycardia ORPHA:83600
Sialidosis Type 2
Ataxia, Tremor, Corneal opacity ORPHA:87876
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Abnormal glucose homeostasis, Lethargy, Bradycardia ORPHA:391673
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Cystinosis
Type I diabetes mellitus, Polydipsia, Portal hypertension, Gait disturbance, Corneal opacity, Mot... ORPHA:213
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Erythrokeratodermia Variabilis
Cataract, Diabetes mellitus, Corneal opacity ORPHA:317
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Exaggerated startle response OMIM:608800
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Hypertension, Corneal opacity OMIM:166300
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Gait disturbance, Keratoglobus, Sclerocornea, Fla... OMIM:614170
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Gait disturbance, Corneal opacity OMIM:620469
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Pulmonary embolism, Tremor, Hypertension, Ar... ORPHA:94093
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Attention deficit hyperactivity disorder, Depression, Bradycardia ORPHA:90674
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Lethargy, Hypoglycemia, Irritability OMIM:229700
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Heart murmur, N... OMIM:617600
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Dementia, Confusion, Tremor, Lethargy, Pulmonary arterial hypertension, Bradycardia,... OMIM:277400
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Hyperlysinemia, Type I
Ectopia lentis, Short attention span, Cognitive impairment, Hyperactivity, Dysdiadochokinesis OMIM:238700
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response, Tachycardia, Hypertension, Diabetes mellitus OMIM:184850
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Lujo Hemorrhagic Fever
Mental deterioration, Hypotension, Resting tremor, Shock, Confusion, Bradycardia, Myocarditis, Su... ORPHA:319213
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Gm1 Gangliosidosis
Ataxia, Generalized dystonia, Congestive heart failure, Cardiomyopathy, Tremor, Oral aversion, Un... ORPHA:354
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Serotonin Syndrome
Mental deterioration, Mydriasis, Hypotension, Confusion, Tremor, Irritability, Delirium, Tachycar... ORPHA:43116
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Hypertrophic cardiomyopathy, Gait ataxia, Corneal opacity, Spastic gait ORPHA:496790
3-Methylglutaconic Aciduria, Type Viii
Cataract, Tremor, Bradycardia, Dystonia, Neonatal hypoglycemia, Dysphagia OMIM:617248
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Third degree atrioventricular block, Bradycardia ORPHA:40366
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Cognitive impairment, Hyperactivity, Ataxia, Opacification o... OMIM:601853
Graves Disease
Polyphagia, Congestive heart failure, Hyperactivity, Irritability OMIM:275000
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia, Aggressive behavior, Impulsivity OMIM:261990
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Dysdiadochokinesis, Bradykinesia, Short attention span, Emotional lability,... OMIM:610217
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Waddling gait OMIM:620351
Proximal Spinal Muscular Atrophy
Difficulty walking, Dysphagia, Inability to walk, Bradycardia ORPHA:70
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A... ORPHA:168491
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Pediatric-Onset Graves Disease
Polydipsia, Keratitis, Sinus tachycardia, Congestive heart failure, Palpitations, Emotional labil... ORPHA:525731
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia OMIM:610768
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Difficulty walking, Mitral regurgitation, Loss of... ORPHA:423461
Infantile Neuroaxonal Dystrophy
Mental deterioration, Short attention span, Emotional lability, Choking episodes, Unsteady gait, ... ORPHA:35069
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Juvenile Sialidosis Type 2
Cataract, Dysmetria, Loss of ambulation, Corneal opacity, Ataxia, Dysphagia ORPHA:93399
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Sialidosis Type 1
Cataract, Tremor, Gait disturbance, Corneal opacity, Ataxia ORPHA:812
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Fabry Disease
Cataract, Atrioventricular block, Depression, Congestive heart failure, Anorexia, Hypertrophic ca... ORPHA:324
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Short ... ORPHA:98794
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Waddling gait, Corneal opacity ORPHA:2788
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Gait disturbance, Corneal opacity, Orthostatic h... ORPHA:1764
Congenital Sialidosis Type 2
Cataract, Abnormal EKG, Dysmetria, Telangiectasia, Corneal opacity, Developmental cataract, Ataxia ORPHA:93400
Alpha-Mannosidosis
Cataract, Type II diabetes mellitus, Corneal opacity ORPHA:61
Short Syndrome
Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior em... ORPHA:3163
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Illum Syndrome
Bradycardia OMIM:208155
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Hypoglycemia, Shock, Confusion, Bradycardia, Capillary l... ORPHA:99826
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Dilated cardiomyopathy, Generalized dystonia, Gait ataxia, Irritability, Aggressive beh... OMIM:618321
Crimean-Congo Hemorrhagic Fever
Emotional lability, Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemo... ORPHA:99827
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Pulmonary arterial hypertension, Abnormal posturing OMIM:614857
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Bundle branch block, Short attention span, First degree atrioventricular block, Hyperac... ORPHA:589821
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Wilson Disease
Depression, Kayser-Fleischer ring, Difficulty walking, Aggressive behavior, Hypersexuality ORPHA:905
Mercury Poisoning
Hypotension, Confusion, Tremor, Anorexia, Tachycardia, Dystonia, Hypertension ORPHA:330021
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Mucopolysaccharidosis Type 3
Ataxia, Abnormal temper tantrums, Cataract, Atrioventricular block, Dementia, Reduced left ventri... ORPHA:581
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, C... ORPHA:43
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Gait disturbance OMIM:271630
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma, Ataxia OMIM:230650
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia OMIM:618775
Citrullinemia Type Ii
Memory impairment, Confusion, Abnormal eating behavior, Tremor, Irritability, Aggressive behavior... ORPHA:247585
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Incontinentia Pigmenti
Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Attention deficit hyperactivity... ORPHA:464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Distal Deletion 6P
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Anterior synechiae of the ante... ORPHA:96125
Mucopolysaccharidosis Type 2
Mental deterioration, Abnormal temper tantrums, Cardiomyopathy, Short attention span, Oppositiona... ORPHA:580
Mucolipidosis Type Iv
Ataxia, Gait disturbance, Corneal opacity ORPHA:578
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Dystonia, Sinus bradycardia OMIM:618397
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hypoglycemia, Bradycardia ORPHA:91355
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity OMIM:619339
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Mental deterioration, Phonic tics, Depression, Bradykinesia, Akinesia, Obsessive-c... OMIM:234200
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Tyrosinemia Type 2
Ataxia, Tremor, Corneal opacity ORPHA:28378
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Irritability, Impulsivity, Lethargy, Hyperactivity, Exaggerated star... OMIM:620423
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Sandifer Syndrome
Hematemesis, Abnormal posturing, Torticollis ORPHA:71272
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Corneal opacity OMIM:607016
Legius Syndrome
Cataract, Short attention span, Paroxysmal atrial tachycardia, Attention deficit hyperactivity di... ORPHA:137605
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Astigmatism, Pulmonic stenosis, Corneal opacity OMIM:301056
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Sclerocornea, Ventr... OMIM:300952
Aniridia 1
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hypoplasia of the iris, Ectopia pup... OMIM:106210
Zellweger Syndrome
Cataract, Posterior embryotoxon, Cognitive impairment, Corneal opacity, Brushfield spots ORPHA:912
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypertension, Impaired g... OMIM:219090
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Scorpion Envenomation
Mydriasis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle bran... ORPHA:466677
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... ORPHA:91495
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Mitral regurgitation, Corneal opacity, Ataxia, Opacification of the cornea... OMIM:253010
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Attention deficit hyperactivity disorde... ORPHA:464311
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... OMIM:612716
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... ORPHA:1830
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity OMIM:607015
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Cocaine Intoxication
Mydriasis, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged QRS comple... ORPHA:90068
Alpha-Mannosidosis, Infantile Form
Ataxia, Cataract, Aortic regurgitation, Depression, Confusion, Short attention span, Astigmatism,... ORPHA:309282
Multiple Sulfatase Deficiency
Ataxia, Rapid neurologic deterioration, Corneal opacity OMIM:272200
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Dysphagia, Astigmatism, Sinus bradycardia OMIM:619482
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Vici Syndrome
Cataract, Dilated cardiomyopathy, Abnormal posturing, Cardiomyopathy, Ocular albinism, Congestive... OMIM:242840
Congenital Disorder Of Deglycosylation 1
Restlessness, Oral-pharyngeal dysphagia, Action tremor, Dysmetria, Impaired oropharyngeal swallow... OMIM:615273
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Corneal opacity, Progressive neurolog... OMIM:607014
Hurler Syndrome
Depression, Cardiomyopathy, Angina pectoris, Corneal opacity, Hypertension ORPHA:93473
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ataxia, Ocular albinism, Corneal opacity, Athetosis ORPHA:2719
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Developmental cataract, Corneal opacity OMIM:616603
Multiple Sulfatase Deficiency
Cataract, Rapid neurologic deterioration, Corneal opacity ORPHA:585
Mucopolysaccharidosis Type 4
Gait disturbance, Cognitive impairment, Corneal opacity ORPHA:582
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypoglycemia, Bradycardia ORPHA:226307
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Megalocornea ORPHA:2409
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Gait disturbance, Hyperactivity, Cornea... ORPHA:464306
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy ORPHA:1806
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Norrie Disease
Self-injurious behavior, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphol... ORPHA:649
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Microphthalmia/Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Keratoconjunctiv... ORPHA:495875
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Cataract, Microcornea, Iris coloboma ORPHA:139471
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity ORPHA:284160
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Difficulty walking, Tremor, Attention deficit hyperactivity disorder, Ataxi... ORPHA:442835
Chromosome 6Pter-P24 Deletion Syndrome
Peters anomaly, Axenfeld anomaly, Telangiectasia, Posterior embryotoxon, Ocular anterior segment ... OMIM:612582
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral stenosis, Mitral regurgitation... OMIM:253200
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Cognitive impairment, Pulmonic stenosis, Corneal opacity ORPHA:488632
Lcat Deficiency
Corneal opacity ORPHA:650
Focal Dermal Hypoplasia
Ectopia lentis, Hypoplasia of the iris, Telangiectasia of the skin, Cognitive impairment, Corneal... ORPHA:2092
Williams Syndrome
Megalocornea, Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Posterior embryo... ORPHA:904
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
De Barsy Syndrome
Progressive cerebellar ataxia, Cataract, Athetosis, Corneal opacity ORPHA:2962
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Tangier Disease
Opacification of the corneal stroma, Myocardial infarction OMIM:205400
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Peters anomaly, Histiocytoid cardiomyopathy, Arrhythmia... OMIM:309801
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Congestive heart failure, Corneal opacity ORPHA:579
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Farber Disease
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Oculoectodermal Syndrome
Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigmatism, Hyperactivity, ... OMIM:600268
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Cerebral ischemia, Astigmatism, Pulmonary arterial hypertension, Opaci... OMIM:242900
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Abnormal cornea morphology, Bradycardia ORPHA:79404
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Cerebral hemorrhage, Ischemic stroke, Limb... OMIM:175780
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Corneal opacity OMIM:253220
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Multicentric Osteolysis, Nodulosis, And Arthropathy
Gait disturbance, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Mucopolysaccharidosis Type 2, Attenuated Form
Mental deterioration, Cardiomyopathy, Short attention span, Arrhythmia, Cognitive impairment, Cor... ORPHA:217093
Neurofibromatosis Type 1
Ataxia, Cataract, Memory impairment, Heterochromia iridis, Lisch nodules, Attention deficit hyper... ORPHA:636
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Cataract, Lentiglobus, Depression, Abnormal pupil morphology, Attention ... ORPHA:534
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Emotional lability, Hyperactivity OMIM:620047
Fucosidosis
Corneal opacity ORPHA:349
Pseudo-Torch Syndrome 1
Cataract, Dystonia, Opacification of the corneal stroma OMIM:251290
Mucopolysaccharidosis Type 2, Severe Form
Mental deterioration, Cardiomyopathy, Arrhythmia, Cognitive impairment, Corneal opacity, Heart mu... ORPHA:217085
Unilateral Polymicrogyria
Epistaxis, Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Moebius Syndrome
Dysphagia, Corneal opacity ORPHA:570
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Gaucher Disease
Depression, Tremor, Pulmonary arterial hypertension, Corneal opacity, Ataxia, Dysphagia ORPHA:355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos OMIM:236670
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Wilson Disease
Sunflower cataract, Glycosuria, Hand tremor, Kayser-Fleischer ring, Limb dystonia, Tremor, Dement... OMIM:277900
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Shuffling gait, Insulin resistance, Left ventricular... ORPHA:740
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris colobo... ORPHA:536471
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Broad-based gait, Limb ataxia, Spontaneous, recurrent epistaxis, Pulmon... ORPHA:2072
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Abnormal emotion, Corneal scarring, Short attention span, Self-mutilation, Or... ORPHA:642
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma OMIM:252605
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Cataract, Aortic valve stenosis, Abnormal fear-induced behavior, Emotion... ORPHA:353281
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Severely reduced left ventricular ejection fraction, Opacif... OMIM:252600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Opacification of the corneal stroma, Loss of ambulation, Unsteady gait, Brushfield spot... OMIM:214100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Cataract, Athetosis, Tricuspid regurgitation, Opacification of the corneal ... OMIM:614866
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma OMIM:243605
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor ORPHA:99819
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Fryns Syndrome
Corneal opacity ORPHA:2059
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma, Pulmonic stenosis OMIM:201000
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ... OMIM:158310
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Pulmonary arterial hypertension, Iris coloboma, Corneal opacity ORPHA:2396
Cockayne Syndrome A
Cataract, Tremor, Arrhythmia, Gait disturbance, Ataxia, Dementia, Opacification of the corneal st... OMIM:216400
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Loss of ambulation, Gait disturbance, Corneal opacity,... ORPHA:666
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Hypoplasia of the iris OMIM:613001
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Cognitive impairment ORPHA:583
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Cockayne Syndrome B
Microcornea, Hypoplasia of the iris, Tremor, Arrhythmia, Developmental cataract, Ataxia, Opacific... OMIM:133540
Xeroderma Pigmentosum
Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Telangiectasia, Telangiectasia of th... ORPHA:910
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Ataxia, Dystonia, Opacification of the corneal stroma OMIM:251300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Waddling gait OMIM:253000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract OMIM:614230
Kindler Epidermolysis Bullosa
Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Tip-toe gait, Megalocornea, Hypertrophic cardiomyopathy, Congestive heart f... OMIM:252500
3Mc Syndrome 3
Corneal opacity OMIM:248340
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Sclerocornea, Iris c... ORPHA:818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Cataract, Aortic valve stenosis, Abnormal fear-induced behavior, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Cataract, Aortic valve stenosis, Abnormal fear-induced behavior, Corneal... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Ataxia, Cataract, Confusion, Type II diabetes mellitus, Action tremor, Tremor, Corneal opacity, T... ORPHA:3455
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Developmental cataract, Cor... ORPHA:90348
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Opacification of the corneal stroma, Dysphagia OMIM:601559
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Mental deterioration, Keratitis, Astigmatism, Corneal opacity, Dementia, Conjunctivitis, Corneal ... ORPHA:2273
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Peters Plus Syndrome
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae... ORPHA:709
Larsen Syndrome
Corneal opacity OMIM:150250
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Wolf-Hirschhorn Syndrome
Sclerocornea, Iris coloboma, Ataxia, Megalocornea ORPHA:280
Lathosterolosis
Cataract, Microcornea, Opacification of the corneal stroma ORPHA:46059
Chime Syndrome
Corneal opacity ORPHA:3474
Proboscis Lateralis
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:141099
Gaucher Disease, Type Iiic