Gene: Gabra2 MGI:95614

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Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 5.77×10-06
hypoactivity Gabra2em1(IMPC)H HOM Early adult 2.48×10-09
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 4.04×10-07
corneal opacity Gabra2em1(IMPC)H HOM Early adult 1.46×10-06
hyperactivity Gabra2em1(IMPC)H HOM   Early adult 3.87×10-11
increased grip strength Gabra2em1(IMPC)H HOM Late adult 1.64×10-05
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 9.35×10-07
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 8.30×10-07
prolonged RR interval Gabra2em1(IMPC)H HOM   Early adult 1.22×10-06
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 8.30×10-07
limb grasping Gabra2em1(IMPC)H HOM Early adult 2.73×10-09
trunk curl Gabra2em1(IMPC)H HOM Early adult 9.57×10-06
hypoactivity Gabra2em1(IMPC)H HOM   Late adult 5.63×10-05
increased anxiety-related response Gabra2em1(IMPC)H HOM Early adult 1.73×10-07
decreased total body fat amount Gabra2em1(IMPC)H HOM Late adult 7.53×10-07
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.65×10-06

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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.


XRay Images Whole Body Dorso Ventral

12 Images


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
Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Difficulty walking, Ataxia, Unsteady gait, Impulsivity, Mental deterioration, Attention d... ORPHA:442835
Developmental And Epileptic Encephalopathy 78
Inability to walk OMIM:618557
Alcohol Dependence

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

Disease Similarity of
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Dystonia 11, Myoclonic
Tremor, Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
3-Methylglutaconic Aciduria, Type Viii
Cataract, Tremor, Bradycardia, Dystonia OMIM:617248
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memo... ORPHA:401901
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dementia, Depression, Gait disturbance, Cataract, Bradycardia, Cardiomyopathy OMIM:609286
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Conges... ORPHA:3077
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety OMIM:606438
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity, Dilated cardiomyopathy, Bradycardia, Hypertrophic cardio... OMIM:618815
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Anxiety OMIM:605909
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Depression, Head tremor, Action tremor, Progressive... OMIM:604326
Dystonia 23
Arrhythmia, Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Limb dyst... OMIM:614860
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Immunodeficiency 8
Hyperactivity OMIM:615401
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Self-mutilation, Aggressive behavior, Depression, Cataract, Irritability, Anxiety, Hyperactivity,... OMIM:261600
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Dystonia, Bradycardia OMIM:616299
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Resting tremor, Bradykinesia, Emotional lability, Craniofacial dystonia,... ORPHA:71517
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Depression, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... ORPHA:248111
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Dermoids Of Cornea
Corneal opacity OMIM:304730
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Atrioventricular block, Intention tremor, Bradycardia OMIM:614407
Tachycardia, Hypertension, Depression OMIM:602079
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Dementia, Depression, Gait disturbance, Bradykinesia, Dysmetria,... ORPHA:157941
Mohr-Tranebjaerg Syndrome
Tremor, Mental deterioration, Abnormal posturing, Dystonia OMIM:304700
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, B... ORPHA:542306
Corneal opacity ORPHA:351
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hyperactivity, Mental deterioration OMIM:615924
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Opisthotonus, Generalized d... ORPHA:216866
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Coproporphyria, Hereditary
Tachycardia, Anxiety, Hypertension, Depression OMIM:121300
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Resting tremor, Congestive heart failure, Anxiety, Dilated cardiomyopathy OMIM:606703
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Winchester Syndrome
Corneal opacity OMIM:277950
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Steppage gait, Emotional lability, Social and occup... ORPHA:98818
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Aggressive behavior, Corneal opacity, Cataract, Microcornea, Astigmatism, Attention deficit hyper... OMIM:152950
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Supraventricular arrhythmia, Head tremor, Difficulty walking, Craniofacial dyston... ORPHA:420492
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Emotional lability, Corneal ... OMIM:256800
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Glossopharyngeal Neuralgia
Depression, Anxiety, Jaw claudication, Bradycardia, Syncope ORPHA:221098
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based... ORPHA:411515
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Tremor, Lethargy, Tachycardia ORPHA:276608
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety OMIM:606324
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Depression, Corneal opacity, Ataxia, Cataract, Anxiety ORPHA:309288
Morquio Syndrome C
Corneal opacity OMIM:252300
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Inappropriate crying, Abnormal posturing, Gait disturbance, Resting tremor... ORPHA:225147
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Loss of ability to walk, Atrioventricular block, Sinus bradycar... OMIM:616812
Perry Syndrome
Tremor, Dystonia, Disinhibition, Akinesia, Depression, Apathy, Frontotemporal dementia, Bradykine... OMIM:168605
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity ORPHA:577
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Depression, Loss of ability to walk, Emotional lability, Motor deterioration, Tachycard... ORPHA:79264
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Tremor, Hypertension, Opisthotonus, Tachycardia, Bradycardia ORPHA:3299
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Aggressive behavior, Unsteady gait, Hyperactivity, Blue irides OMIM:615516
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hyperlysinemia, Type I
Cognitive impairment, Ectopia lentis, Hyperactivity OMIM:238700
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Encephalitis Lethargica
Mental deterioration, Tremor, Lethargy, Bradycardia ORPHA:83600
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Stiff-Person Syndrome
Depression, Agoraphobia, Hypertension, Opisthotonus, Exaggerated startle response, Tachycardia, A... OMIM:184850
Graves Disease, Susceptibility To, 1
Congestive heart failure, Irritability, Hyperactivity OMIM:275000
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Norrie Disease
Shallow anterior chamber, Aggressive behavior, Dementia, Hypoplasia of the iris, Cataract, Opacif... OMIM:310600
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia ORPHA:87876
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Gait disturbance, Keratoglobus, Megalocornea, Flat corn... OMIM:614170
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Tachycardia, Bradycardia OMIM:614653
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Histiocytoid Cardiomyopathy
Congenital aphakia, Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation... ORPHA:137675
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Neuroleptic Malignant Syndrome
Tremor, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Oculogyri... ORPHA:94093
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Necrotizing Enterocolitis
Hypotension, Lethargy, Bradycardia, Shock ORPHA:391673
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Anxiety, Syncope ORPHA:464453
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Opacification of the cor... OMIM:601853
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Loss of ability to walk, Bradycardia, Toe walking ORPHA:565624
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Paragangliomas 3
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:605373
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Opisthotonus, Bradycardia OMIM:619272
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Syncope, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276556
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hypertension, Ataxia, Progressive psychomotor deterioration, Limb dystonia, ... ORPHA:363400
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Variegate Porphyria
Tachycardia OMIM:176200
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Corneal neovascu... ORPHA:2334
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Arrhythmia, Aggressive behavior, Hyperactivity OMIM:600430
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Antecubital pterygium ORPHA:40366
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Lethargy, Abnormal posturing OMIM:614857
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Illum Syndrome
Bradycardia OMIM:208155
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Lethargy OMIM:229700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Syncope, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276575
Sialidosis Type 1
Tremor, Gait disturbance, Corneal opacity, Ataxia, Cataract ORPHA:812
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Corneal opacity, Cataract, Spastic gait, Hypertrophic cardiomyopathy ORPHA:496790
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Familial Dysautonomia
Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Gait disturbance, Corneal opacity... ORPHA:1764
Hypotension, Tachycardia OMIM:236800
Pediatric-Onset Graves Disease
Palpitations, Tremor, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart fail... ORPHA:525731
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Syncope, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276580
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Serotonin Syndrome
Tremor, Hypotension, Hypertension, Irritability, Tachycardia, Anxiety, Mydriasis, Mental deterior... ORPHA:43116
Osteoporosis-Pseudoglioma Syndrome
Loss of ability to walk, Waddling gait, Corneal opacity ORPHA:2788
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Lcat Deficiency
Corneal opacity, Hypertension ORPHA:650
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Ataxia, Cataract, Dysmetria, Telangiectasia, Abnormal EKG ORPHA:93400
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Paragangliomas 1
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:168000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Tricuspid regurgitation, Impulsivity, Sinus bradycardia, Mitral regurgitation OMIM:261990
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... ORPHA:439232
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia OMIM:613327
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Wilson Disease
Aggressive behavior, Depression, Hypersexuality, Difficulty walking, Kayser-Fleischer ring ORPHA:905
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Hyperphosphatasia With Mental Retardation Syndrome 6
Developmental cataract, Aggressive behavior, Hyperactivity OMIM:616809
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Tachycardia, Syncope ORPHA:324575
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma OMIM:230650
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Gm1 Gangliosidosis
Tremor, Dystonia, Gait disturbance, Corneal opacity, Ataxia, Unsteady gait, Congestive heart fail... ORPHA:354
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Hypertension, Irritability, Anxiety, Hy... ORPHA:449291
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Tachycardia, Anxiety, Hyperactivity, Attention deficit hyperactivity d... ORPHA:485405
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Depression, Angina pectoris, Mitral... ORPHA:324
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Opi... OMIM:103050
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit... ORPHA:1942
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Aggressive behavior, Progressive neurologic deterioration, Hyperac... OMIM:252920
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Hyperactivity, Mood swings OMIM:300354
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking ORPHA:70
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Aortic regurgitation OMIM:616603
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Reduced ejection fraction, Disinhibition, Aggressive behavi... ORPHA:581
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Tremor, Inappropriate laughter, Ataxia, Hyperactivity, Gait imbalance, Bro... ORPHA:98794
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Cataract, Corneal opacity ORPHA:61
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased corneal reflex, Hypertension, Emotional lability, Tachycardia,... OMIM:223900
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Juvenile Sialidosis Type 2
Loss of ability to walk, Corneal opacity, Ataxia, Cataract, Dysmetria ORPHA:93399
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Distal Monosomy 6P
Abnormal anterior chamber morphology, Self-injurious behavior, Posterior embryotoxon, Corneal opa... ORPHA:96125
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Posterior synechiae of the ... OMIM:221900
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Bohring-Opitz Syndrome
Inability to walk, Bradycardia, Happy demeanor ORPHA:97297
Atopic Keratoconjunctivitis
Chemosis, Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularization ORPHA:163934
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Megalocornea, Abnormal anterior c... ORPHA:3163
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity, Aortic regurgitation OMIM:607015
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Hyperactivity ORPHA:397973
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Angelman Syndrome
Inability to walk, Keratoconus, Tremor, Inappropriate laughter, Iris hypopigmentation, Aggressive... ORPHA:72
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Axillary pterygium, Corneal opacity OMIM:619339
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia ORPHA:90051
Mend Syndrome
Cataract, Aortic valve stenosis, Hyperactivity OMIM:300960
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Porphyria, Acute Intermittent
Tachycardia, Anxiety, Hypertension, Depression OMIM:176000
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Astigmatism, Low frustration tolerance, Hyperactivity, H... ORPHA:363686
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Tremor, Lethargy, Tachycardia ORPHA:263455
Portal hypertension, Gait disturbance, Corneal opacity ORPHA:213
Mercury Poisoning
Tremor, Dystonia, Hypotension, Hypertension, Tachycardia ORPHA:330021
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Lethargy, Hypotension, Ventricular tachycardia, Irritability, Cardiomyopathy ORPHA:159
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Cataract, Anxiety, Hyperactivity, Consp... OMIM:123450
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Sandifer Syndrome
Torticollis, Abnormal posturing, Hematemesis ORPHA:71272
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Arrhythmia, Aggressive behavior, Corneal opacity, Hypertens... ORPHA:580
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract, Cognitive impairment ORPHA:912
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Incontinentia Pigmenti
Gait disturbance, Corneal opacity, Telangiectasia of the skin, Cataract, Congestive heart failure... ORPHA:464
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Lethargy, Ventricular tachycardia OMIM:600649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Allodynia, Corneal scarring, Corneal stromal ed... ORPHA:137596
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Sclerocornea ORPHA:83461
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Gait disturbance, Corneal opacity, Aortic valve stenosis, Anxiety, Astigmat... ORPHA:464311
Hurler Syndrome
Progressive neurologic deterioration, Aortic regurgitation, Corneal opacity, Opacification of the... OMIM:607014
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Mietens Syndrome
Cataract, Microcornea, Corneal opacity, Sclerocornea ORPHA:2557
Angelman Syndrome
Progressive gait ataxia, Limb tremor, Paroxysmal bursts of laughter, Hyperactivity, Blue irides, ... OMIM:105830
Multiple Sulfatase Deficiency
Corneal opacity, Ataxia, Rapid neurologic deterioration OMIM:272200
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Sheehan Syndrome
Palpitations, Bradycardia, Orthostatic hypotension ORPHA:91355
Myotonic Dystrophy 2
Palpitations, Tachycardia, Iridescent posterior subcapsular cataract OMIM:602668
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Difficulty walking, Ataxia, Unsteady gait, Impulsivity, Mental deterioration, Attention d... ORPHA:442835
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Bipolar affective disorder, Corneal opacity, Pulmonic stenosis, Cognitive impa... ORPHA:488632
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Gait disturbance, Corneal opacity, Aortic valve stenosis, Anxiety, Hyperact... ORPHA:464306
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hyperactivity OMIM:182290
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Depression, Corneal opacity, Ataxia, Astigmatism, Cataract, Anxiety, Mitral... ORPHA:309282
Mucopolysaccharidosis Type 4
Cognitive impairment, Gait disturbance, Corneal opacity ORPHA:582
Vici Syndrome
Developmental cataract, Abnormal posturing, Ocular albinism, Congestive heart failure, Dilated ca... OMIM:242840
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonic stenosis, Astigmatism, Abnormal left ventricular function, Corneal opacity OMIM:301056
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Corneal opacity, Hypertension, Congestive heart failure, Cerebral ischemia, Pulm... ORPHA:1830
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Wilson Disease
Tremor, Kayser-Fleischer ring, Dementia, Dystonia OMIM:277900
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Corneal opacity, Ataxia, Ocular albinism, Cataract, Athetosis ORPHA:2719
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Lethargy, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, ... ORPHA:26793
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Acute Intermittent Porphyria
Tremor, Depression, Hypertension, Tachycardia, Anxiety, Memory impairment, Mental deterioration ORPHA:79276
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Ataxia, Congestive heart failure, Tachycardia, Pr... ORPHA:31826
Scheie Syndrome
Corneal opacity, Aortic regurgitation ORPHA:93474
19P13.12 Microdeletion Syndrome
Arrhythmia, Aortic regurgitation, Self-injurious behavior, Hyperactivity, Mitral regurgitation ORPHA:254346
Scorpion Envenomation
Cardiogenic shock, Tremor, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wav... ORPHA:466677
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Sclerocornea OMIM:615145
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Rapid neurologic deterioration ORPHA:585
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Paragangliomas 4
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:115310
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Dementia, Depression, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradyk... OMIM:234200
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Aggressive behavior, Corneal opacity, Keratoconjunctivitis sicca, Corneal dystrophy,... ORPHA:495875
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation OMIM:252605
Schimke Immunoosseous Dysplasia
Hypertension, Astigmatism, Opacification of the corneal stroma, Waddling gait, Cerebral ischemia,... OMIM:242900
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Ataxia, Ventricular tachycardia, Ventricular fibrillatio... OMIM:616878
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Sclerocornea, Corneal dystrophy ORPHA:1806
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment ORPHA:247585
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Lethargy, Hypotension, Irritability, Tachycardia, Hypovolemic shock ORPHA:173
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Congenital Fibrinogen Deficiency
Opisthotonus, Developmental cataract, Tachycardia, Internal hemorrhage ORPHA:335
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Aggressive behavior, Ataxia, Hyperactivity ORPHA:369891
Norrie Disease
Self-injurious behavior, Anterior chamber synechiae, Ectopia lentis, Corneal opacity, Aplasia/Hyp... ORPHA:649
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Walker-Warburg Syndrome
Cataract, Microcornea, Iris coloboma, Corneal opacity ORPHA:899
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Hyperactivity OMIM:619239
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Hurler Syndrome
Depression, Angina pectoris, Corneal opacity, Hypertension, Cardiomyopathy ORPHA:93473
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Iris coloboma, Sclerocornea ORPHA:139471
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Motor deterioration, Hyperactivity OMIM:252930
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Conjunctivitis, Tachycardia, Conjunctival hyperemia ORPHA:3392
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Oculoectodermal Syndrome
Astigmatism, Opacification of the corneal stroma, Microcornea, Hyperactivity, Transient ischemic ... OMIM:600268
Fragile X Syndrome
Hyperactivity OMIM:300624
Cocaine Intoxication
Ventricular arrhythmia, Tremor, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolon... ORPHA:90068
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Mucopolysaccharidosis, Type Vii
Corneal opacity, Cardiomyopathy OMIM:253220
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Congenital Disorder Of Deglycosylation
Corneal opacity, Action tremor, Dysmetria, Corneal ulceration, Athetosis OMIM:615273
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Porphyria Variegata
Tachycardia, Anxiety, Hypertension ORPHA:79473
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Focal Dermal Hypoplasia
Iris coloboma, Corneal opacity, Ectopia lentis, Telangiectasia of the skin, Hypoplasia of the iri... ORPHA:2092
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity OMIM:252900
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,...