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
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 8.65×10-07
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
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 4.49×10-07
decreased total body fat amount Gabra2em1(IMPC)H HOM Late adult 1.06×10-06
decreased fasting circulating glucose level Gabra2em1(IMPC)H HOM Early adult 5.45×10-06
decreased locomotor activity Gabra2em1(IMPC)H HOM   Late adult 5.00×10-05
decreased locomotor activity Gabra2em1(IMPC)H HOM Early adult 2.48×10-09
increased anxiety-related response Gabra2em1(IMPC)H HOM Early adult 1.90×10-07
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.58×10-06
decreased heart rate Gabra2em1(IMPC)H HOM   Early adult 2.68×10-05
hyperactivity Gabra2em1(IMPC)H HOM   Early adult 3.28×10-11
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 8.65×10-07
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 1.07×10-06
trunk curl Gabra2em1(IMPC)H HOM Early adult 8.51×10-06
corneal opacity Gabra2em1(IMPC)H HOM Early adult 1.69×10-06
increased grip strength Gabra2em1(IMPC)H HOM Late adult 6.57×10-06

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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 Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Ataxia, Impulsivity, Mental deterioration, Tremor, Difficulty walking, Attention deficit hyperact... 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
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... OMIM:617182
Dystonia 31
Leg dystonia, Depression, Craniofacial dystonia, Writer's cramp, Difficulty walking, Generalized ... OMIM:619565
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Cognitive impairment OMIM:238700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Progressive cerebellar ataxia, Corneal dystrophy, Ataxia ORPHA:3177
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Premature ventricular contraction, Hypotension, Hypoglycemia, Ventricular tachycard... OMIM:212138
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Arrhythmia, Gait disturbance, Cataract, Diabetes mellitus, Dementia, Cardiomyopathy, ... OMIM:609286
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... ORPHA:412066
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Bra... OMIM:618815
3-Methylglutaconic Aciduria, Type Viii
Tremor, Cataract, Dystonia, Bradycardia OMIM:617248
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Tremor, Unsteady gait, Emotional lability, Dystonia OMIM:128235
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Intention tremor, Truncal ataxia, Impaired glucose tolerance, Dystonia, Atri... OMIM:614407
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Dystonia, Irritability, Dementia OMIM:606438
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Progressi... ORPHA:276608
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... ORPHA:248111
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Glycine Encephalopathy
Hyperactivity, Impulsivity, Irritability, Aggressive behavior, Lethargy OMIM:605899
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Bradycardia, Congestive heart failure OMIM:619048
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Dystonia, Bradycardia OMIM:616299
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Dystonia, Bradycardia OMIM:616277
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Phenylketonuria
Hyperactivity, Blue irides, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity... OMIM:261600
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy... ORPHA:324575
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Gómez-López-Hernández Syndrome
Corneal opacity, Cognitive impairment, Ataxia ORPHA:1532
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Morm Syndrome
Cataract, Hyperactivity, Aggressive behavior ORPHA:75858
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Huntington Disease-Like 1
Bradykinesia, Dysmetria, Cognitive impairment, Depression, Memory impairment, Gait disturbance, G... ORPHA:157941
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Hyperactivity, Aggressive behavior OMIM:619470
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Keratoconus, Prolonged PR interval, B... ORPHA:542306
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Galactosialidosis
Corneal opacity ORPHA:351
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Inability to walk, Blepharospasm, Depression, Tremor, Writer... OMIM:128100
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Opisthotonus, Cognitive impairment, Gait disturbance, Attention ... ORPHA:216866
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycar... ORPHA:276580
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Self-injurious behavior, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Timothy Syndrome
Hypoglycemia, Prolonged QT interval, Bradycardia OMIM:601005
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Bradykinesia, Inappropriate behavior, Memory impairment, ... OMIM:619827
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia OMIM:615924
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Trimethylaminuria
Depression, Hypertension, Tachycardia OMIM:602079
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Dystonia, Progressive neurologic deterioration OMIM:252650
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycardia, Syncope, Reac... ORPHA:276556
Winchester Syndrome
Corneal opacity OMIM:277950
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:609425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Palpitations, Tachycar... ORPHA:276575
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Opisthotonus, Bradycardia OMIM:619814
Mohr-Tranebjaerg Syndrome
Mental deterioration, Tremor, Dystonia, Abnormal posturing OMIM:304700
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder, Astigmatism OMIM:619927
Adult-Onset Cervical Dystonia, Dyt23 Type
Supraventricular arrhythmia, Torticollis, Axial dystonia, Panic attack, Head tremor, Craniofacial... ORPHA:420492
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract, Attention deficit hypera... OMIM:152950
Glossopharyngeal Neuralgia
Depression, Anxiety, Syncope, Jaw claudication, Bradycardia ORPHA:221098
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Coproporphyria, Hereditary
Depression, Hypertension, Anxiety, Tachycardia OMIM:121300
Harel-Yoon Syndrome
Corneal opacity, Inability to walk, Ataxia, Developmental cataract, Hypertrophic cardiomyopathy, ... OMIM:617183
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... OMIM:615745
Morquio Syndrome C
Corneal opacity OMIM:252300
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment ORPHA:577
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Iris hypopigmentation, Inappropriate lau... ORPHA:411515
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Paroxysmal bursts of laughter OMIM:618718
Alpha-Mannosidosis, Adult Form
Corneal opacity, Ataxia, Depression, Anxiety, Aortic regurgitation, Cataract ORPHA:309288
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Tetanus
Opisthotonus, Tachycardia, Tremor, Hypertension, Bradycardia ORPHA:3299
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... ORPHA:228360
Necrotizing Enterocolitis
Hypotension, Shock, Abnormal glucose homeostasis, Lethargy, Hyperglycemia, Bradycardia ORPHA:391673
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Resting tremor, Inappropriate crying, Gait disturbance, Titubation, Gait ataxia, Dy... ORPHA:225147
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Self-mutilation, Recurrent cornea... OMIM:256800
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Neonatal hypoglycemia, Cardiomyopathy, Congestive heart failu... OMIM:261740
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Anxiety, Cataract, Aggressive behavior, Emotional lability, Hypertension, Anirid... OMIM:612469
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Loss of ambulation, Tip-toe gait, Neonatal hypoglycemia, Bradycardia ORPHA:565624
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Congenital aphakia, Corneal opacity... ORPHA:137675
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairm... ORPHA:363400
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Encephalitis Lethargica
Mental deterioration, Tremor, Lethargy, Bradycardia ORPHA:83600
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior OMIM:271980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Tachycardia, Diabet... OMIM:184850
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
D-Glyceric Aciduria
Hypoglycemia, Opisthotonus, Bradycardia OMIM:220120
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia ORPHA:87876
Erythrokeratodermia Variabilis
Corneal opacity, Cataract, Diabetes mellitus ORPHA:317
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Loss of ambulation, Palpitations, Syncope, Difficulty walking, Second degree atrioventricular blo... OMIM:616812
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity, Inability to walk OMIM:166300
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Progressive cerebellar ataxia, Depression, Anxiety, Aggre... ORPHA:485350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Aggressive behavior, Dystonia ORPHA:500180
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attentio... ORPHA:1929
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Progressive language deterioration, Cognitive impairment, Depression, Anxiety... ORPHA:79264
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... ORPHA:439232
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Opisthotonus, Bradycardia OMIM:619272
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Pulmonic stenosis, Anxiety, Heart murmur, Attention deficit hyperactivity disorder... OMIM:617600
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Opacification o... OMIM:601853
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Gait disturbance, Keratoconus, Keratoglobus, Sclerocornea, Decreased c... OMIM:614170
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Attention deficit hyperactivity disorder, Lethargy, Bradycardia ORPHA:90674
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Lethargy, Tachycardia, Irritability OMIM:229700
Neuroleptic Malignant Syndrome
Oculogyric crisis, Anxiety, Pulmonary embolism, Tachycardia, Hypotension, Arrhythmia, Tremor, Hyp... ORPHA:94093
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Lujo Hemorrhagic Fever
Resting tremor, Mental deterioration, Anxiety, Hypotension, Myocarditis, Shock, Subconjunctival h... ORPHA:319213
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Tachycardia, Insulin resistance, Atrial fibrillation, Prolonged QT interval, Br... OMIM:613327
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Antecubital pterygium, Bradycardia ORPHA:40366
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Glycosuri... ORPHA:263455
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity OMIM:607016
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Mental deterioration, Anxiety, Astigmatism, Gait distur... ORPHA:168491
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia OMIM:610768
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Abnormal Hair, Joint Laxity, And Developmental Delay
Impulsivity, Tricuspid regurgitation, Mitral regurgitation, Aggressive behavior, Sinus bradycardia OMIM:261990
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Cataract ORPHA:290
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Sialidosis Type 1
Corneal opacity, Ataxia, Gait disturbance, Tremor, Cataract ORPHA:812
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Gait ataxia, Cataract, Spastic gait, Hypertrophic cardiomyopathy ORPHA:496790
Acquired Methemoglobinemia
Palpitations, Anxiety, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Illum Syndrome
Bradycardia OMIM:208155
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... ORPHA:3163
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Congestive heart failure OMIM:275000
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Alpha-Mannosidosis
Corneal opacity, Type II diabetes mellitus, Cataract ORPHA:61
Congenital Sialidosis Type 2
Corneal opacity, Ataxia, Dysmetria, Abnormal EKG, Developmental cataract, Cataract, Telangiectasia ORPHA:93400
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Gait disturbance, Attention d... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Hyperactivity, Impulsivity, Pulmonic stenosis, Anxiety, Aggressive behavior, Dystonia OMIM:616977
Pediatric-Onset Graves Disease
Keratitis, Hyperactivity, Sinus tachycardia, Palpitations, Tremor, Emotional lability, Hypertensi... ORPHA:525731
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Impulsivity, Mental deterioration, Gait disturbance, Psychomotor deteriora... ORPHA:35069
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Self-injurious behavior, Aggressive behavior, Arrhythmia OMIM:600430
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Hyperactivity, Impulsivity, Dysmetria, Intention tremor, Mental deterioration, Dysd... OMIM:610217
Familial Dysautonomia
Corneal opacity, Ataxia, Abnormal pupil morphology, Orthostatic hypotension, Tachycardia, Gait di... ORPHA:1764
Gm1 Gangliosidosis
Corneal opacity, Ataxia, Cognitive impairment, Gait disturbance, Tremor, Unsteady gait, Dystonia,... ORPHA:354
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Corneal opacity, Mucosal telang... ORPHA:324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Developmental cataract, Corneal opacity OMIM:616603
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Lethargy, Abnormal posturing OMIM:614857
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Wilson Disease
Depression, Difficulty walking, Hypersexuality, Aggressive behavior, Kayser-Fleischer ring ORPHA:905
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Episodic paroxysmal anxiety, Tachyca... OMIM:605373
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... ORPHA:563
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Agg... OMIM:103050
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Tremor, Attention deficit hyperactivity ... ORPHA:1942
Marburg Hemorrhagic Fever
Hypovolemia, Tachycardia, Conjunctival hyperemia, Hypotension, Hypoglycemia, Shock, Aggressive be... ORPHA:99826
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Serotonin Syndrome
Mental deterioration, Anxiety, Tachycardia, Hypotension, Mydriasis, Tremor, Hypertension, Irritab... ORPHA:43116
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Cystinosis
Gait disturbance, Corneal opacity, Type I diabetes mellitus, Portal hypertension ORPHA:213
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Anxiety, Tachycardia, Nail-biting, Attention deficit hyperactivity disorder, Skin-... ORPHA:485405
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Mucopolysaccharidosis Type 3
Corneal opacity, Ataxia, Hyperactivity, Loss of ambulation, Opacification of the corneal stroma, ... ORPHA:581
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Emotional lability, Bundle ... ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Tachycardia, Dilated cardiomyopathy, Cataract, Aggressive behavior, Gait ataxia, Lethargy... OMIM:618321
Proximal Spinal Muscular Atrophy
Difficulty walking, Inability to walk, Bradycardia ORPHA:70
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter OMIM:614104
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract, Heart murmur ORPHA:1867
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:137902
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:300958
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Hyperactivity, Iris hypopigmentation, T... ORPHA:98794
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Distal Monosomy 6P
Corneal opacity, Self-injurious behavior, Abnormal anterior chamber morphology, Ectopia pupillae,... ORPHA:96125
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Episodic paroxysmal anx... OMIM:168000
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Sheehan Syndrome
Hypoglycemia, Orthostatic hypotension, Palpitations, Bradycardia ORPHA:91355
Juvenile Sialidosis Type 2
Loss of ambulation, Corneal opacity, Ataxia, Dysmetria, Cataract ORPHA:93399
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Athetosis, Dystonia ORPHA:52503
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Aggressive behavior, Progressive neurologic deterio... OMIM:252920
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Astigmatism, Hyperopic astigmatism, Inappropriate laughter, Low f... ORPHA:363686
Incontinentia Pigmenti
Keratitis, Telangiectasia of the skin, Corneal opacity, Cognitive impairment, Retinal hemorrhage,... ORPHA:464
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Hyperactivi... ORPHA:72
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Bohring-Opitz Syndrome
Happy demeanor, Inability to walk, Bradycardia ORPHA:97297
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration,... ORPHA:163681
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Tachycardia, Posterio... OMIM:602668
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Aortic valve stenosis, Anxiety, Astigmatism, Gait disturbance, Aortic regurgitat... ORPHA:464311
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Zellweger Syndrome
Corneal opacity, Cognitive impairment, Posterior embryotoxon, Cataract, Brushfield spots ORPHA:912
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Sandifer Syndrome
Torticollis, Hematemesis, Abnormal posturing ORPHA:71272
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Aniridia 1
Glucose intolerance, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal s... OMIM:106210
Mucopolysaccharidosis Type 2
Corneal opacity, Impulsivity, Hyperactivity, Cognitive impairment, Mental deterioration, Arrhythm... ORPHA:580
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Aortic valve stenosis, Hyperactivity, Anxiety, Astigmatism, Gait disturbance, Ao... ORPHA:464306
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonic stenosis, Abnormal left ventricular function, Corneal opacity, Astigmatism OMIM:301056
Choreoacanthocytosis
Laryngeal dystonia, Mental deterioration, Falls, Limb dystonia, Emotional lability, Bradyphrenia,... ORPHA:2388
Hurler-Scheie Syndrome
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension, Corneal opacity OMIM:607015
Angelman Syndrome
Broad-based gait, Hyperactivity, Blue irides, Progressive gait ataxia, Limb tremor, Paroxysmal bu... OMIM:105830
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Cerebral ischemia, Ischemic stroke, Hypertension, Transient ischemic attack, Pul... ORPHA:1830
Multiple Sulfatase Deficiency
Corneal opacity, Rapid neurologic deterioration, Ataxia OMIM:272200
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Inability to walk, Cognitive impairment, Pulmonic stenosis, Bipolar affective di... ORPHA:488632
Hurler Syndrome
Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma, Progressive neurologi... OMIM:607014
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation, Cataract ORPHA:2719
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Mental deterioration, Tremor, Difficulty walking, Attention deficit hyperact... ORPHA:442835
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Ataxia, Depression, Mitral regurgitation, Anxiety, Astigmatism, Aortic regurgita... ORPHA:309282
Vici Syndrome
Ocular albinism, Dilated cardiomyopathy, Developmental cataract, Cardiomyopathy, Congestive heart... OMIM:242840
Mucolipidosis Iii Gamma
Aortic regurgitation, Opacification of the corneal stroma, Aortic valve stenosis OMIM:252605
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Multiple Sulfatase Deficiency
Corneal opacity, Cataract, Rapid neurologic deterioration ORPHA:585
Lowry-Maclean Syndrome
Corneal opacity, Megalocornea, Developmental glaucoma ORPHA:2409
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Mucopolysaccharidosis Type 4
Gait disturbance, Corneal opacity, Cognitive impairment ORPHA:582
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardi... ORPHA:26793
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis OMIM:615145
Norrie Disease
Corneal opacity, Self-injurious behavior, Abnormal pupil morphology, Anterior chamber synechiae, ... ORPHA:649
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Lethargy, Bradycardia ORPHA:226307
Cholera
Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia, Lethargy, Irritability ORPHA:173
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Orthostatic hypotension, Tachycardia, Recurrent corneal erosions, Emotional l... OMIM:223900
Hurler Syndrome
Angina pectoris, Corneal opacity, Depression, Hypertension, Cardiomyopathy ORPHA:93473
Porphyria, Acute Intermittent
Depression, Hypertension, Anxiety, Tachycardia OMIM:176000
Ectodermal Dysplasia-Blindness Syndrome
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Sclerocornea ORPHA:1806
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Bradykinesia, Blepharospasm, Depression, Mental deterioration, G... OMIM:234200
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Buphthalmos, Attention deficit hyperactivity disorder, Aggress... ORPHA:495875
Walker-Warburg Syndrome
Corneal opacity, Cataract, Microcornea, Iris coloboma ORPHA:899
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Legius Syndrome
Hyperactivity, Cognitive impairment, Pulmonic stenosis, Paroxysmal atrial tachycardia, Cataract, ... ORPHA:137605
Citrullinemia Type Ii
Hyperactivity, Irritability, Memory impairment, Tremor, Aggressive behavior, Lethargy ORPHA:247585
Scorpion Envenomation
Bundle branch block, Ataxia, Premature ventricular contraction, ST segment depression, Tachycardi... ORPHA:466677
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Microcornea, Sclerocornea ORPHA:139471
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea ORPHA:284160
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Corneal opacity, Tricuspid regurgitation, Mitral regurgitation, Pulmonary insuff... OMIM:253200
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Posterior embryotoxon, Opacification of the corneal stroma, Peters anomaly, Ocu... OMIM:612582
Focal Dermal Hypoplasia
Telangiectasia of the skin, Corneal opacity, Cognitive impairment, Iris coloboma, Hypoplasia of t... ORPHA:2092
Lcat Deficiency
Corneal opacity ORPHA:650
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Williams Syndrome
Gait imbalance, Ataxia, Blue irides, Sudden cardiac death, Megalocornea, Myocardial infarction, T... ORPHA:904
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Mucopolysaccharidosis, Type Vii
Corneal opacity, Cardiomyopathy OMIM:253220
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Cerebral ischemia, Astigmatism, Waddling gait, Hypertension,... OMIM:242900
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Inte... ORPHA:99829
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Episodic paroxysmal anx... OMIM:115310
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Sanjad-Sakati Syndrome
Corneal opacity, Astigmatism ORPHA:2323
Mucopolysaccharidosis Type 1
Corneal opacity, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:579
De Barsy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Cataract, Athetosis ORPHA:2962
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Corneal opacity, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Re... OMIM:175780
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Arrhythmia, Peters anomaly, Iris coloboma, Histiocytoid cardiomyo... OMIM:309801
Oculoectodermal Syndrome
Hyperactivity, Limbal dermoid, Microcornea, Opacification of the corneal stroma, Astigmatism, Tra... OMIM:600268
Neurofibromatosis Type 1
Corneal opacity, Ataxia, Memory impairment, Lisch nodules, Attention deficit hyperactivity disord... ORPHA:636
Multicentric Osteolysis, Nodulosis, And Arthropathy
Gait disturbance, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Oculocerebrorenal Syndrome Of Lowe
Corneal opacity, Self-injurious behavior, Abnormal pupil morphology, Depression, Buphthalmos, Anx... ORPHA:534
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Fucosidosis
Corneal opacity ORPHA:349
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia, Astigmatism OMIM:619482
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Cognitive impairment, Mental deterioration, Arrhythmia, Heart murmur, Hypertensi... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Cognitive impairment, Mental deterioration, Arrhythmia, Heart murmur, Hypertensi... ORPHA:217093
Gaucher Disease
Corneal opacity, Ataxia, Depression, Tremor, Pulmonary arterial hypertension ORPHA:355
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Cataract, Aniridia ORPHA:251038
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Mitral stenosis, Corneal ulceration, Corneal opacity, Aortic valve stenosis, Ray... ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Megalocornea, Peters anomaly, Cataract OMIM:236670
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Action tremor, Dysmetria, Athetosis OMIM:615273
Mucolipidosis Iii Alpha/Beta
Hyperopic astigmatism, Aortic regurgitation, Opacification of the corneal stroma OMIM:252600
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, Posterior embryotoxon... ORPHA:2556
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract, Dystonia OMIM:251290
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... OMIM:158310
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Develop... OMIM:171300
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Wilson Disease
Hand tremor, Glycosuria, Tremor, Kayser-Fleischer ring, Limb dystonia, Dystonia, Dementia OMIM:277900
Stromme Syndrome
Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:243605
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism ORPHA:2095
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Corneal ulceration, Impulsivity, Hyperactivity, Self-mutilation, Abnormal emoti... ORPHA:642
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Aortic valve stenosis, Pulmonic stenosis, Megalocornea, Posterior subcapsular ca... ORPHA:536471
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma OMIM:615287
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Fryns Syndrome
Corneal opacity ORPHA:2059
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Cognitive impairment ORPHA:583
Carpenter Syndrome 1
Pulmonic stenosis, Opacification of the corneal stroma, Microcornea OMIM:201000
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Pulmonary arterial hypertension, Aortic valve stenosis, Iris coloboma ORPHA:2396
Cockayne Syndrome A
Ataxia, Opacification of the corneal stroma, Arrhythmia, Gait disturbance, Tremor, Cataract, Hype... OMIM:216400
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:214110
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Cataract, Brushfield spots OMIM:614866
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Xeroderma Pigmentosum
Keratitis, Telangiectasia of the skin, Ataxia, Cognitive impairment, Conjunctival telangiectasia,... ORPHA:910
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Ataxia, Hyperactivity, Dysmetria, Hand tremor, Astigmatism, Gait ataxia, Attent... OMIM:614756
Cockayne Syndrome B
Ataxia, Opacification of the corneal stroma, Arrhythmia, Microcornea, Tremor, Hypoplasia of the i... OMIM:133540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Peroxisome Biogenesis Disorder 1A (Zellweger)
Loss of ambulation, Opacification of the corneal stroma, Cataract, Brushfield spots, Unsteady gait OMIM:214100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational deterioration, Impul... ORPHA:353281
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Aortic valve stenosis OMIM:253010
Tuberous Sclerosis Complex
Impulsivity, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyper... ORPHA:805
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
3Mc Syndrome 3
Corneal opacity OMIM:248340
Galloway-Mowat Syndrome 1
Ataxia, Opacification of the corneal stroma, Hypoplasia of the iris, Cataract, Dystonia OMIM:251300
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Waddling gait OMIM:253000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Corneal opacity, Limb ataxia, Spontaneous, recurrent epistaxis, Pulmonary arter... ORPHA:2072
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Iris coloboma, Attention deficit hyperactivity disorder, Cataract, Scler... ORPHA:818
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Mitral regurgitation, Megalocornea, Opacification of the corneal stroma, Heart murm... OMIM:252500
Autosomal Dominant Cutis Laxa
Corneal opacity, Mitral regurgitation, Aortic regurgitation, Developmental cataract, Congestive h... ORPHA:90348
Osteogenesis Imperfecta
Corneal opacity, Loss of ambulation, Ataxia, Cerebral hemorrhage, Gait disturbance, Aortic regurg... ORPHA:666
Moebius Syndrome
Corneal opacity ORPHA:570
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Corneal opacity, Mental deterioration, Astigmatism, Corneal erosion, Conjunctivitis, D... ORPHA:2273
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Cataract OMIM:274000
Unilateral Polymicrogyria
Epistaxis, Abnormal posturing ORPHA:268943
Larsen Syndrome
Corneal opacity OMIM:150250
Spondyloepiphy