Gene Summary

Name:
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2
Synonyms:
C630048P16Rik,  Gabra-2

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
decreased heart rate Gabra2em1(IMPC)H HOM   Early adult 2.68×10-05
decreased fasting circulating glucose level Gabra2em1(IMPC)H HOM Early adult 5.51×10-06
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 4.49×10-07
decreased locomotor activity Gabra2em1(IMPC)H HOM Late adult 2.88×10-05
decreased locomotor activity Gabra2em1(IMPC)H HOM Early adult 1.22×10-09
increased anxiety-related response Gabra2em1(IMPC)H HOM Early adult 2.19×10-07
decreased total body fat amount Gabra2em1(IMPC)H HOM Late adult 1.06×10-06
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.58×10-06
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 4.27×10-07
limb grasping Gabra2em1(IMPC)H HOM Early adult 2.17×10-09
prolonged RR interval Gabra2em1(IMPC)H HOM   Early adult 1.02×10-05
decreased exploration in new environment Gabra2em1(IMPC)H HOM Late adult 2.38×10-08
hyperactivity Gabra2em1(IMPC)H HOM   Early adult 4.02×10-11
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 9.05×10-07
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 9.85×10-07
corneal opacity Gabra2em1(IMPC)H HOM Early adult 1.21×10-06
trunk curl Gabra2em1(IMPC)H HOM Early adult 8.51×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Impulsivit... ORPHA:442835
Developmental And Epileptic Encephalopathy 78
Inability to walk OMIM:618557
Alcohol Dependence
OMIM:103780

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Depre... ORPHA:280397
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Depression, Diffic... OMIM:619565
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Inability to walk, Hyperactivity OMIM:616657
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Ataxia, Corneal opacity, Corneal dystrophy ORPHA:3177
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Neonata... OMIM:212138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dementia, Cataract, Cardiomyopathy, Diabetes mellitus, Gait disturbance, Bradycardia,... OMIM:609286
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Moto... ORPHA:412066
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy, Bra... OMIM:618815
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Cataract, Dystonia, Tremor OMIM:617248
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Congestive heart failure, Abnormal aggressive, impulsive or viole... ORPHA:3077
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Depression, Difficulty walking, Attention defic... OMIM:619191
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Dystonia 12
Dystonia, Anxiety, Bradykinesia, Unsteady gait, Emotional lability, Torticollis, Depression, Tremor OMIM:128235
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Intention tremor, Atrioventricular block, Bradycardia, Truncal ataxia, Glucose intolera... OMIM:614407
Huntington Disease-Like 2
Action tremor, Dystonia, Anxiety, Dementia, Bradykinesia, Apathy, Irritability, Depression OMIM:606438
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Lethargy, Hypoketotic hypoglycemia... ORPHA:276608
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait atax... ORPHA:248111
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Lethargy, Irritability, Impulsivity OMIM:605899
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Hypoglycemia, Congestive heart failure OMIM:619048
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia OMIM:616299
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Anxiety, Dementia, Bradykinesia, Depression OMIM:605909
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Phenylketonuria
Anxiety, Cataract, Hyperactivity, Blue irides, Aggressive behavior, Irritability, Self-mutilation... OMIM:261600
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hypoglycemia, Materna... ORPHA:324575
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Dystonia OMIM:614654
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior ORPHA:75858
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor OMIM:619470
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:300983
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Pandas
Emotional lability, Irritability, Separation insecurity, Claustrophobia, Attention deficit hypera... ORPHA:66624
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Huntington Disease-Like 1
Dysmetria, Cognitive impairment, Memory impairment, Dementia, Bradykinesia, Gait ataxia, Gait dis... ORPHA:157941
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Galactosialidosis
Corneal opacity ORPHA:351
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular esc... ORPHA:542306
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Classic Pantothenate Kinase-Associated Neurodegeneration
Cognitive impairment, Opisthotonus, Generalized dystonia, Inability to walk, Gait disturbance, Ti... ORPHA:216866
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemia, Hypertrophic ca... ORPHA:276580
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Emotional lability... ORPHA:98818
Idiopathic Congenital Hypothyroidism
Bradycardia, Lethargy ORPHA:95717
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Aggressive behavior, Personality disorder, Falls ORPHA:2382
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Torticollis, Depression, Writer's cramp, Abnormal posturing, Tremor OMIM:128100
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Mental deterioration, Ataxia, Tremor OMIM:615924
Timothy Syndrome
Bradycardia, Prolonged QT interval, Hypoglycemia OMIM:601005
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity, Impulsivity OMIM:616977
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Progressive neurologic deterioration, Dystonia OMIM:252650
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Trimethylaminuria
Tachycardia, Depression, Hypertension OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:612716
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Reactive hypoglycemia... ORPHA:276556
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Winchester Syndrome
Corneal opacity OMIM:277950
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Hypertrophic cardiomyopathy, Palpi... ORPHA:276575
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Glossopharyngeal Neuralgia
Jaw claudication, Anxiety, Bradycardia, Syncope, Depression ORPHA:221098
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Aggressive behavior, Myopic astigmatism, Att... OMIM:152950
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Mohr-Tranebjaerg Syndrome
Mental deterioration, Dystonia, Abnormal posturing, Tremor OMIM:304700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Coproporphyria, Hereditary
Anxiety, Depression, Hypertension, Tachycardia OMIM:121300
Morquio Syndrome C
Corneal opacity OMIM:252300
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Iris hypopigmentation, Broad-based... ORPHA:411515
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Inability to walk, Tremor OMIM:618718
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity ORPHA:577
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Aggressive be... ORPHA:228360
Tetanus
Opisthotonus, Hypertension, Bradycardia, Tachycardia, Tremor ORPHA:3299
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Anxiety, Cataract, Corneal opacity, Ataxia, Depression ORPHA:309288
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Necrotizing Enterocolitis
Hypotension, Lethargy, Bradycardia, Hyperglycemia, Shock, Abnormal glucose homeostasis ORPHA:391673
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Hyperactivity, Emotional lability, Self-mutilation, Keratit... OMIM:256800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Resting tremor, Bradykinesia, Inappropriate crying, Gait ataxia, Gait disturbance, Titu... ORPHA:225147
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Loss of ability to walk, Leg dystonia, Tip-toe gait, Bradycardia ORPHA:565624
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopat... OMIM:261740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Loss of ability to walk, Syncope, Atrioventricular block, Palpitations, Diffic... OMIM:616812
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Hyperactivity, Ataxia, Limb dystonia,... ORPHA:363400
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Stiff-Person Syndrome
Opisthotonus, Anxiety, Hypertension, Diabetes mellitus, Exaggerated startle response, Tachycardia... OMIM:184850
Histiocytoid Cardiomyopathy
Hypoglycemia, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart fa... ORPHA:137675
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Encephalitis Lethargica
Bradycardia, Lethargy, Mental deterioration, Tremor ORPHA:83600
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Ataxia, Aggressive behavior OMIM:271980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Familial Thyroid Dyshormonogenesis
Bradycardia, Lethargy ORPHA:95716
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior, Depression OMIM:619467
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Dementia, Aggressive behavior, Opacif... OMIM:310600
Sialidosis Type 2
Corneal opacity, Ataxia, Tremor ORPHA:87876
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Diabetes mellitus ORPHA:317
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Hypertension, Inability to walk OMIM:166300
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Anxiety, Blepharospasm, Leg dystonia, Bradykinesia, Postural tremor OMIM:606324
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Progressive language deterioration, Anxiety, Dementia, Motor deterioration,... ORPHA:79264
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Corneal scarring OMIM:614653
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Difficulty walking, Diabetes mellitus, Exaggerated startle response,... ORPHA:3198
Rasmussen Subacute Encephalitis
Cognitive impairment, Memory impairment, Hyperactivity, Inability to walk, Hemidystonia, Emotiona... ORPHA:1929
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Impulsivity ORPHA:500180
Autosomal Recessive Non-Syndromic Intellectual Disability
Depression, Impulsivity, Dystonia, Hyperactivity ORPHA:88616
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Prolonged QT interval, Atrial fibrillation, Bradycardia, Ta... OMIM:613327
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Attention deficit hyperactivity disorder, Depression, Lethargy ORPHA:90674
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Gait disturbance, Keratocon... OMIM:614170
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder,... OMIM:601853
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Opisthotonus OMIM:619272
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Neuroleptic Malignant Syndrome
Arrhythmia, Oculogyric crisis, Anxiety, Pulmonary embolism, Hypotension, Hypertensive crisis, Hyp... ORPHA:94093
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Resting tremor, Anxiety, Mental deterioration, Hypotension, Myocardit... ORPHA:319213
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Irritability, Hypoglycemia, Lethargy OMIM:229700
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Congestive heart failure OMIM:275000
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Lethargy, Hypoketotic ... ORPHA:263455
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Antecubital pterygium ORPHA:40366
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Astigmatism, Motor deterioration, Dementia, Mental deteriorat... ORPHA:168491
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Impulsivity, Aggressive behavior ORPHA:101039
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Aortic regurgitation OMIM:607016
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Ck Syndrome
Irritability, Hyperactivity, Aggressive behavior ORPHA:251383
Illum Syndrome
Bradycardia OMIM:208155
Congenital Rubella Syndrome
Cataract, Corneal opacity, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris ORPHA:290
Acquired Methemoglobinemia
Arrhythmia, Anxiety, Palpitations, Syncope, Tachycardia ORPHA:464453
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Aggressive behavior, Mitral regurgitation, Tricuspid regurgitation, Impulsivity OMIM:261990
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Short Syndrome
Abnormal anterior chamber morphology, Insulin resistance, Hypoplasia of the iris, Posterior embry... ORPHA:3163
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Spastic gait, Cataract, Corneal opacity, Hypertrophic cardiomyopathy, Gait ataxia ORPHA:496790
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Lethargy OMIM:614857
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Gait disturbance, Tremor ORPHA:812
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Alpha-Mannosidosis
Cataract, Corneal opacity, Type II diabetes mellitus ORPHA:61
Osteoporosis-Pseudoglioma Syndrome
Loss of ability to walk, Corneal opacity, Waddling gait ORPHA:2788
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Ck Syndrome
Irritability, Hyperactivity, Aggressive behavior OMIM:300831
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Mental deterioration, Emotion... OMIM:610217
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Hyperactivity, Mental deterioration, Ataxia, Unsteady gait, ... ORPHA:35069
X-Linked Adrenoleukodystrophy
Cognitive impairment, Disinhibition, Dementia, Hyperactivity, Aggressive behavior, Inappropriate ... ORPHA:43
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irritability, Hypertension,... ORPHA:449291
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Congenital Sialidosis Type 2
Dysmetria, Developmental cataract, Abnormal EKG, Cataract, Corneal opacity, Ataxia, Telangiectasia ORPHA:93400
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Corneal opacity, Ataxia, Abnormal pupil morphology... ORPHA:1764
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Pediatric-Onset Graves Disease
Sinus tachycardia, Mood swings, Congestive heart failure, Hyperactivity, Palpitations, Irritabili... ORPHA:525731
Gm1 Gangliosidosis
Cognitive impairment, Dystonia, Generalized dystonia, Congestive heart failure, Corneal opacity, ... ORPHA:354
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Fabry Disease
Cognitive impairment, Corneal dystrophy, Mucosal telangiectasiae, Arrhythmia, Congestive heart fa... ORPHA:324
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Wilson Disease
Kayser-Fleischer ring, Aggressive behavior, Hypersexuality, Depression, Difficulty walking ORPHA:905
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Gait disturbance OMIM:271630
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia, Episodic paroxysmal anx... OMIM:605373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract, Aortic regurgitation OMIM:616603
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypoglycemia, Hypotension, Aggressive behavior, Lethargy... ORPHA:99826
Serotonin Syndrome
Anxiety, Mental deterioration, Hypotension, Irritability, Mydriasis, Hypertension, Tachycardia, T... ORPHA:43116
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Hyperactivity, Inability to walk, Aggressive behavior, Inappropriat... OMIM:103050
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Gait disturbance OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia, Tremor OMIM:300354
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Disinhibition, Cataract, Corneal opacity, Dementia, Ataxia, Aggressive... ORPHA:581
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Cystinosis
Corneal opacity, Portal hypertension, Type I diabetes mellitus, Gait disturbance ORPHA:213
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Lethargy ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Proximal Spinal Muscular Atrophy
Bradycardia, Inability to walk, Difficulty walking ORPHA:70
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:300958
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Tachycardia, Skin-picking, Attention deficit hyperactivity d... ORPHA:485405
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Myotonic Dystrophy 2
Diabetes mellitus, Palpitations, Tachycardia, Iridescent posterior subcapsular cataract, Insulin ... OMIM:602668
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Hyperactivity, Ataxia, Aggressive behavior OMIM:610042
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Iris hypopigmentation, Gait imbala... ORPHA:98794
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia, Episodic paroxysmal anx... OMIM:168000
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia, Hypoglycemia ORPHA:91355
Mucolipidosis Type Iv
Corneal opacity, Ataxia, Gait disturbance ORPHA:578
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
X-Linked Creatine Transporter Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Self-mutilation ORPHA:52503
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Paroxysmal bursts of laughter ORPHA:228402
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Progressive neurologic deterioration, Aggressive be... OMIM:252920
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Di... ORPHA:137596
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Juvenile Sialidosis Type 2
Dysmetria, Loss of ability to walk, Cataract, Corneal opacity, Ataxia ORPHA:93399
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Bohring-Opitz Syndrome
Bradycardia, Happy demeanor, Inability to walk ORPHA:97297
Tyrosinemia Type 2
Corneal opacity, Ataxia, Tremor ORPHA:28378
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Cri-Du-Chat Syndrome
Anxiety, Cataract, Hyperactivity, Conspicuously happy disposition, Aggressive behavior, Self-muti... OMIM:123450
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Astigmatism, Anxiety, Inability to walk, Ataxia, Aggress... ORPHA:72
Incontinentia Pigmenti
Cognitive impairment, Retinal hemorrhage, Congestive heart failure, Cataract, Corneal opacity, Te... ORPHA:464
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Low frustration tolerance, Hyperopic astigmatism, Astigmatism, Hyperactivity, Inappropriate laugh... ORPHA:363686
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Hyperactivity, Mental deterioratio... ORPHA:163681
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Anxiety, Astigmatism, Corneal opacity, Gait disturbance, Aortic valve steno... ORPHA:464311
Zellweger Syndrome
Cognitive impairment, Posterior embryotoxon, Cataract, Corneal opacity, Brushfield spots ORPHA:912
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Fragile X Syndrome
Self-biting, Hyperactivity OMIM:300624
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Hemorrhage of th... ORPHA:91495
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Anxiety, Astigmatism, Corneal opacity, Hyperactivity, Gait disturbance, Aor... ORPHA:464306
Mucopolysaccharidosis Type 2
Cognitive impairment, Arrhythmia, Hyperactivity, Corneal opacity, Mental deterioration, Aggressiv... ORPHA:580
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Hurler-Scheie Syndrome
Mitral regurgitation, Corneal opacity, Pulmonary arterial hypertension, Aortic regurgitation OMIM:607015
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Ataxia, Aggressive behavior OMIM:618430
Sandifer Syndrome
Torticollis, Hematemesis, Abnormal posturing ORPHA:71272
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Abnormal left ventricular function, Pulmonic stenosis OMIM:301056
Angelman Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Blue irides, Limb tremor, Progressive gait ataxia, ... OMIM:105830
Choreoacanthocytosis
Aggressive behavior, Apathy, Hair-pulling, Depression, Socially inappropriate behavior, Hyperacti... ORPHA:2388
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Corneal opacity, Pulmonary arterial hypertension, Transient ischemic at... ORPHA:1830
Multiple Sulfatase Deficiency
Corneal opacity, Rapid neurologic deterioration, Ataxia OMIM:272200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Aggressive behavior ORPHA:391307
Tbck-Related Intellectual Disability Syndrome
Cognitive impairment, Corneal opacity, Inability to walk, Pulmonic stenosis, Bipolar affective di... ORPHA:488632
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Athetosis, Ataxia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Vici Syndrome
Dilated cardiomyopathy, Developmental cataract, Congestive heart failure, Cardiomyopathy, Ocular ... OMIM:242840
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Anxiety, Cataract, Astigmatism, Corneal opacity, Ataxia, Mitral regurgitati... ORPHA:309282
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic valve stenosis, Aortic regurgitation OMIM:252605
Scheie Syndrome
Corneal opacity, Aortic regurgitation ORPHA:93474
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Rapid neurologic deterioration ORPHA:585
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Impulsivit... ORPHA:442835
Hurler Syndrome
Mitral regurgitation, Aortic regurgitation, Corneal opacity, Progressive neurologic deterioration... OMIM:607014
Mucopolysaccharidosis Type 4
Cognitive impairment, Corneal opacity, Gait disturbance ORPHA:582
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Wilson Disease
Glycosuria, Dystonia, Kayser-Fleischer ring, Dementia, Tremor OMIM:277900
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Hypoglycemia, Lethargy ORPHA:226307
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Orthostatic hypotension, Emotional lability, Hypertension, Tachycardia, Recur... OMIM:223900
Porphyria, Acute Intermittent
Anxiety, Depression, Hypertension, Tachycardia OMIM:176000
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Self-injurious behavior, Cataract, Corneal opacity, Anxiety... ORPHA:649
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Scorpion Envenomation
Glycosuria, Increased circulating troponin I concentration, Premature ventricular contraction, Ar... ORPHA:466677
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Lethargy, ... ORPHA:26793
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal dystrophy, Corneal opacity, Aggressive behavior, Keratoconjunctivitis sicca, Buphthalmos,... ORPHA:495875
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
White-Sutton Syndrome
Hypoglycemic seizures, Anxiety, Self-injurious behavior, Astigmatism, Hyperactivity, Aggressive b... OMIM:616364
Legius Syndrome
Cognitive impairment, Dystonia, Cataract, Hyperactivity, Pulmonic stenosis, Paroxysmal atrial tac... ORPHA:137605
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Citrullinemia Type Ii
Memory impairment, Hyperactivity, Aggressive behavior, Lethargy, Irritability, Tremor ORPHA:247585
Cholera
Hypovolemic shock, Hypoglycemia, Hypotension, Lethargy, Irritability, Tachycardia ORPHA:173
Hurler Syndrome
Corneal opacity, Hypertension, Cardiomyopathy, Angina pectoris, Depression ORPHA:93473
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Schimke Immunoosseous Dysplasia
Astigmatism, Transient ischemic attack, Cerebral ischemia, Hypertension, Opacification of the cor... OMIM:242900
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Low frustration tolerance, Self-mutilation OMIM:300486
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Lethargy OMIM:218700
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Glass Syndrome
Happy demeanor, Broad-based gait, Aggressive behavior, Hyperactivity OMIM:612313
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Dementia, Bradykinesia, Mental deterioration, Ataxia, Akinesia, Hyperact... OMIM:234200
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:284160
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Lcat Deficiency
Corneal opacity ORPHA:650
Focal Dermal Hypoplasia
Cognitive impairment, Hypoplasia of the iris, Ectopia lentis, Corneal opacity, Telangiectasia of ... ORPHA:2092
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Tangier Disease
Opacification of the corneal stroma, Myocardial infarction OMIM:205400
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Williams Syndrome
Blue irides, Hypertension, Mitral regurgitation, Depression, Tremor, Dysmetria, Congestive heart ... ORPHA:904
Mucopolysaccharidosis, Type Vii
Corneal opacity, Cardiomyopathy OMIM:253220
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Hyperactivity, Low frustration tolerance, Aggressive behavior OMIM:309520
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Posterior embryotoxon, Peters anomaly, Ocular anterior segment dysgenesis, Opac... OMIM:612582
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia, Episodic paroxysmal anx... OMIM:115310
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy, Abnormal cornea morphology ORPHA:79404
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Dysmetria, Action tremor, Corneal opacity, Athetosis OMIM:615273
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Memory impairment, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Gai... ORPHA:139396
Mucopolysaccharidosis Type 1
Corneal opacity, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:579
Neurofibromatosis Type 1
Heterochromia iridis, Memory impairment, Cataract, Corneal opacity, Ataxia, Lisch nodules, Hypert... ORPHA:636
Farber Disease
Opacification of the corneal stroma, Corneal opacity, Abnormal conjunctiva morphology ORPHA:333
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Oculoectodermal Syndrome
Microcornea, Astigmatism, Hyperactivity, Hypertrophic cardiomyopathy, Limbal dermoid, Transient i... OMIM:600268
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea, Gait disturbance OMIM:259600
De Barsy Syndrome
Progressive cerebellar ataxia, Cataract, Corneal opacity, Athetosis ORPHA:2962
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Self-injurious behavior, Cataract, Corneal opacity, Anxiety, Abnormal pupil morpholo... ORPHA:534
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Astigmatism, Difficulty walking OMIM:619482
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cognitive impairment, Violent behavior, Dystonia, Aggressive behavior, Depression, Aortic regurgi... OMIM:619475
Mucopolysaccharidosis Type 2, Severe Form
Cognitive impairment, Arrhythmia, Corneal opacity, Mental deterioration, Hypertension, Cardiomyop... ORPHA:217085
Fucosidosis
Corneal opacity ORPHA:349
Mucopolysaccharidosis Type 2, Attenuated Form
Cognitive impairment, Arrhythmia, Corneal opacity, Mental deterioration, Hypertension, Cardiomyop... ORPHA:217093
Gaucher Disease
Corneal opacity, Ataxia, Pulmonary arterial hypertension, Depression, Tremor ORPHA:355
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Aortic regurgitation, Hyperopic astigmatism OMIM:252600
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction... ORPHA:740
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Sclerocornea, Cataract, Iris coloboma OMIM:309801
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Aniridia, Iris coloboma ORPHA:251038
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract, Dystonia OMIM:251290
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Peters anomaly, Buphthalmos, Megalocornea OMIM:236670
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Limbal dermoid, Abnormal anterior chamber morphology, Hypoplasia of the iris OMIM:613001
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Arrhythmia, Sclerocornea, Posterior embryotoxon, Corneal opacity, Hypertr... ORPHA:2556
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal ulceration, Nail-biting, Corneal scarring, Hyperactivity, Self-mutilation, Syncope, Impul... ORPHA:642
Mucoepithelial Dysplasia, Hereditary
Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Pheochromocytoma
Developmental cataract, Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tac... OMIM:171300
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Corneal opacity, Pulmonic stenosis, Megalocornea, Iris coloboma, Posterior... ORPHA:536471
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Angina pectoris ORPHA:425
Argininemia
Irritability, Spastic gait, Hyperactivity OMIM:207800
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Stromme Syndrome
Sclerocornea, Microcornea, Cataract, Peters anomaly, Iris coloboma OMIM:243605
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Cognitive impairment ORPHA:583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Fryns Syndrome
Corneal opacity ORPHA:2059
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hand tremor, Astigmatism, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, G... OMIM:614756
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Cockayne Syndrome A
Arrhythmia, Cataract, Dementia, Ataxia, Hypertension, Gait disturbance, Opacification of the corn... OMIM:216400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:614866
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Aortic regurgitation ORPHA:1052
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Brushfield spots, Cataract OMIM:214110
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Pulmonic stenosis OMIM:201000
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Corneal opacity, Aortic valve stenosis, Iris coloboma ORPHA:2396
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Cockayne Syndrome B
Developmental cataract, Arrhythmia, Hypoplasia of the iris, Microcornea, Ataxia, Hypertension, Op... OMIM:133540
Xeroderma Pigmentosum
Cognitive impairment, Pterygium, Opacification of the corneal stroma, Cataract, Conjunctival tela... ORPHA:910
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Cataract, Hyperactivity, Panic attack, Aggressive behavior, Pulmonic ste... ORPHA:353281