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Gene: Gabra2 MGI:95614

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
prolonged RR interval Gabra2em1(IMPC)H HOM   Early adult 6.65×10-06
limb grasping Gabra2em1(IMPC)H HOM   Middle aged adult 9.59×10-05
trunk curl Gabra2em1(IMPC)H HOM Early adult 8.43×10-06
decreased locomotor activity Gabra2em1(IMPC)H HOM   Late adult 2.72×10-05
decreased exploration in new environment Gabra2em1(IMPC)H HOM Late adult 4.24×10-05
hyperactivity Gabra2em1(IMPC)H HOM   Early adult 3.11×10-11
increased grip strength Gabra2em1(IMPC)H HOM Late adult 6.24×10-06
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 4.32×10-05
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 8.34×10-07
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 8.34×10-07
decreased heart rate Gabra2em1(IMPC)H HOM   Early adult 1.29×10-05
corneal opacity Gabra2em1(IMPC)H HOM Early adult 1.93×10-06
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 5.03×10-07
decreased fasting circulating glucose level Gabra2em1(IMPC)H HOM Early adult 5.00×10-06
increased anxiety-related response Gabra2em1(IMPC)H HOM Early adult 1.78×10-07
decreased total body fat amount Gabra2em1(IMPC)H HOM Late adult 1.02×10-06
decreased locomotor activity Gabra2em1(IMPC)H HOM Early adult 9.63×10-09
limb grasping Gabra2em1(IMPC)H HOM Early adult 2.65×10-09
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.50×10-06

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

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, Tremor, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty ... 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
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,... OMIM:619565
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Cln3 Disease
Cataract, Ataxia, Aggressive behavior, Mental deterioration, Depression, Bradykinesia, T-wave inv... ORPHA:228346
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... OMIM:212138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Diabetes mellitus, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia,... OMIM:609286
Mitochondrial Complex I Deficiency, Nuclear Type 13
Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemi... ORPHA:276608
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Schizophrenia 15
Hyperactivity OMIM:613950
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hypertrophic cardiomyopathy OMIM:620270
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... ORPHA:324575
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Dysphagia OMIM:620265
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Atrioventricular block, Truncal ataxia, Glucose intolerance, Bradycar... OMIM:614407
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Agitation, Palp... ORPHA:276580
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, D... OMIM:128100
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Attention ... ORPHA:216866
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Syncope, Agita... ORPHA:276556
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Mohr-Tranebjaerg Syndrome
Tremor, Dysphagia, Dystonia, Mental deterioration, Abnormal posturing OMIM:304700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Agitation, Palpitations, Fasting h... ORPHA:276575
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Dystonia OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Huntington Disease-Like 1
Restlessness, Dysmetria, Gait ataxia, Depression, Bradykinesia, Dementia, Gait disturbance, Cogni... ORPHA:157941
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration OMIM:615924
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... ORPHA:542306
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia, Dystonia OMIM:614702
Galactosialidosis
Corneal opacity ORPHA:351
Trimethylaminuria
Hypertension, Tachycardia, Depression OMIM:602079
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Dystonia OMIM:616299
Tetanus
Tachycardia, Tremor, Opisthotonus, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, M... ORPHA:98818
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... OMIM:615516
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Dystonia OMIM:614654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Short attention span, Dystonia, Gait ataxia, Titubation, Bradykinesia, Gait distu... ORPHA:225147
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Mucolipidosis Iv
Progressive neurologic deterioration, Corneal opacity, Opacification of the corneal stroma, Dystonia OMIM:252650
Winchester Syndrome
Corneal opacity OMIM:277950
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... OMIM:152950
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Harel-Yoon Syndrome
Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Dystonia, Hypertrophic cardio... OMIM:617183
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Hypertension, Agitation, Low frustration toleranc... OMIM:612469
D-Glyceric Aciduria
Tongue thrusting, Hypoglycemia, Bradycardia, Opisthotonus OMIM:220120
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia, Opisthotonus OMIM:619814
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Faci... OMIM:620141
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Syncope, Bradycardia ORPHA:221098
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment ORPHA:577
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... ORPHA:411515
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Progressive psychomotor dete... ORPHA:363400
Morquio Syndrome C
Corneal opacity OMIM:252300
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Corneal opacity, Ataxia, Confusion, Depression ORPHA:309288
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension, Abnormal glucose homeostasis, Lethargy, Hyperglycemia ORPHA:391673
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Tip-toe gait, Bradycardia, Loss of ambulation, Neonatal hypoglycemia ORPHA:565624
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, R... OMIM:256800
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Progressive neurologic deterioration, Tremor, Hyperinsulinemia, Glycosuria, Agitatio... ORPHA:263455
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Encephalitis Lethargica
Tremor, Lethargy, Mental deterioration, Bradycardia ORPHA:83600
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Insulin resistance, Hyperinsulinemia, Br... OMIM:613327
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysp... ORPHA:79264
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia ORPHA:87876
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Cystinosis
Corneal opacity, Portal hypertension, Gait disturbance, Type I diabetes mellitus, Polydipsia, Abn... ORPHA:213
Erythrokeratodermia Variabilis
Diabetes mellitus, Cataract, Corneal opacity ORPHA:317
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Hypertension, Corneal opacity OMIM:166300
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... OMIM:614170
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Tachycardia, Hypoglycemia, Lethargy OMIM:229700
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Neuroleptic Malignant Syndrome
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Hypertension, Agitation, Bradycardia,... ORPHA:94093
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... OMIM:617600
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Opisthotonus OMIM:619272
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Pseudo-Torch Syndrome 2
Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Hyperten... ORPHA:449291
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Ataxia, Dystonia, Tremor, Congestive heart failure, Unstea... ORPHA:354
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Hypertension OMIM:184850
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Lujo Hemorrhagic Fever
Shock, Resting tremor, Confusion, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotensi... ORPHA:319213
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Tremor, Hypertension, Irritability, Agitation, Hypotension,... ORPHA:43116
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity OMIM:607016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
3-Methylglutaconic Aciduria, Type Viii
Cataract, Tremor, Dysphagia, Bradycardia, Dystonia, Neonatal hypoglycemia OMIM:617248
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Antecubital pterygium ORPHA:40366
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Graves Disease, Susceptibility To, 1
Congestive heart failure, Hyperactivity, Irritability, Polyphagia OMIM:275000
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Gait ataxia, Hypertrophic cardiomyopathy, Spastic gait ORPHA:496790
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia,... OMIM:610217
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Depression, Self-injurious behavior, Opacification of the corneal stroma, ... OMIM:601853
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Keratitis, Congestive heart failure, Tremor, Hypertension, Ir... ORPHA:525731
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking, Dysphagia ORPHA:70
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un... ORPHA:35069
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia OMIM:610768
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Dysmetria, Dysphagia, Loss of ambulation ORPHA:93399
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Bradycardia OMIM:620351
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation OMIM:261990
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Illum Syndrome
Bradycardia OMIM:208155
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Tremor, Gait disturbance ORPHA:812
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Type I diabetes mellitus ORPHA:290
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Congenital Sialidosis Type 2
Abnormal EKG, Cataract, Corneal opacity, Ataxia, Dysmetria, Telangiectasia, Developmental cataract ORPHA:93400
Alpha-Mannosidosis
Cataract, Corneal opacity, Type II diabetes mellitus ORPHA:61
Gm1-Gangliosidosis, Type Iii
Ataxia, Opacification of the corneal stroma, Dystonia OMIM:230650
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... ORPHA:3163
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal... ORPHA:1764
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Dystonia ORPHA:357058
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypoglycemia, Confusion, Anorexia, Aggressive behavior, Hypovol... ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Internal hemor... ORPHA:99827
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Cataract, Ataxia, Generalized dystonia, Aggressive behavior, Dilated cardiomyopathy,... OMIM:618321
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Bundle branch block, Hyperactivity, Cataract, Short attention span, First degree at... ORPHA:589821
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Lethargy OMIM:614857
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia OMIM:614653
Wilson Disease
Aggressive behavior, Hypersexuality, Depression, Kayser-Fleischer ring, Difficulty walking ORPHA:905
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Mercury Poisoning
Tachycardia, Confusion, Anorexia, Tremor, Hypertension, Hypotension, Dystonia ORPHA:330021
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... ORPHA:563
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Ataxia, Progressive neurologic deterioration, Aggressiv... ORPHA:581
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... ORPHA:163681
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Abnormal eating behavior, Aggressive behavior, Tremor, Me... ORPHA:247585
Incontinentia Pigmenti
Cataract, Corneal opacity, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retin... ORPHA:464
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Neurotrophic Keratopathy
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... ORPHA:137596
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Progressi... ORPHA:580
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ... ORPHA:239
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hypoglycemia, Bradycardia ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Dystonia, Sinus bradycardia OMIM:618397
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Brad... OMIM:234200
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Myotonic Dystrophy 2
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... OMIM:602668
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of t... ORPHA:2388
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... OMIM:300952
Zellweger Syndrome
Cataract, Corneal opacity, Brushfield spots, Cognitive impairment, Posterior embryotoxon ORPHA:912
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Astigmatism, Corneal opacity, Pulmonic stenosis OMIM:301056
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Sandifer Syndrome
Hematemesis, Abnormal posturing, Torticollis ORPHA:71272
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Scorpion Envenomation
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Tremor, C... ORPHA:466677
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... OMIM:106210
Mucopolysaccharidosis, Type Ivb
Ataxia, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma, Aortic valve ... OMIM:253010
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Corneal opacity, Astigmatism, Gait disturbance, Attention deficit hyperacti... ORPHA:464311
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity OMIM:607015
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stro... ORPHA:1830
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Short attention span, Cataract, Corneal opacity, Ataxia, Confusion, Depress... ORPHA:309282
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Astigmatism, Dysphagia, Sinus bradycardia OMIM:619482
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Hurler Syndrome
Aortic regurgitation, Corneal opacity, Progressive neurologic deterioration, Cardiomyopathy, Mitr... OMIM:607014
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Corneal opacity, Ataxia OMIM:272200
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Hurler Syndrome
Corneal opacity, Angina pectoris, Depression, Cardiomyopathy, Hypertension ORPHA:93473
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation ORPHA:2719
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract OMIM:616603
Vici Syndrome
Cataract, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Developmental catara... OMIM:242840
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Congenital Disorder Of Deglycosylation 1
Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Dysmetria, Athetosis, Impaired orophary... OMIM:615273
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypoglycemia, Bradycardia ORPHA:226307
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Cataract, Corneal opacity ORPHA:585
Mucopolysaccharidosis Type 4
Cognitive impairment, Corneal opacity, Gait disturbance ORPHA:582
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hyperactivity, Corneal opacity, Astigmatism, Gait disturbance, Aortic valve... ORPHA:464306
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:899
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... ORPHA:649
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratocon... ORPHA:495875
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Tremor, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty ... ORPHA:442835
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant... OMIM:612582
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Legius Syndrome
Short attention span, Hyperactivity, Cataract, Dystonia, Paroxysmal atrial tachycardia, Pulmonic ... ORPHA:137605
Tbck-Related Intellectual Disability Syndrome
Cognitive impairment, Inability to walk, Corneal opacity, Pulmonic stenosis ORPHA:488632
Lcat Deficiency
Corneal opacity ORPHA:650
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria... OMIM:253200
Focal Dermal Hypoplasia
Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Cognitive im... ORPHA:2092
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Neurofibromatosis Type 1
Cataract, Corneal opacity, Ataxia, Hypertension, Attention deficit hyperactivity disorder, Lisch ... ORPHA:636
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Williams Syndrome
Myocardial infarction, Tremor, Dysmetria, Compulsive behaviors, Megalocornea, Ataxia, Sudden card... ORPHA:904
De Barsy Syndrome
Athetosis, Cataract, Corneal opacity, Progressive cerebellar ataxia ORPHA:2962
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... OMIM:309801
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Microcornea, Astigmatism, Opacification of the corneal ... OMIM:600268
Gaucher Disease
Ataxia, Corneal opacity, Tremor, Depression, Dysphagia, Pulmonary arterial hypertension ORPHA:355
Schimke Immunoosseous Dysplasia
Waddling gait, Transient ischemic attack, Hypertension, Astigmatism, Cerebral ischemia, Opacifica... OMIM:242900
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia OMIM:609152
Wilson Disease
Dystonia, Tremor, Hand tremor, Dysphagia, Kayser-Fleischer ring, Glycosuria, Dementia, Limb dystonia OMIM:277900
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal cornea morphology, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Corneal opacity OMIM:253220
Mucopolysaccharidosis Type 1
Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity ORPHA:579
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Abnormal pupil morphology, Depression, Buphthalmos, Self-injurious beh... ORPHA:534
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Gait disturbance OMIM:259600
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Mucopolysaccharidosis Type 2, Attenuated Form
Short attention span, Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Cognitive impa... ORPHA:217093
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea OMIM:236670
Fucosidosis
Corneal opacity ORPHA:349
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Cognitive impairment, Mental deterio... ORPHA:217085
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Dystonia OMIM:251290
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L... ORPHA:740
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Corneal opacity, Limb ataxia, Abnormal temper... ORPHA:2072
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Unilateral Polymicrogyria
Pseudobulbar paralysis, Epistaxis, Abnormal posturing ORPHA:268943
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Short attention span, Impulsivity, Corneal scarring, Syncope, Abnorma... ORPHA:642
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo... ORPHA:536471
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnorm... ORPHA:353281
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Corneal opacity, Sclerocornea, Dilated cardiomyopathy, Mitral regurgitat... ORPHA:2556
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Unsteady gait, Opacification of the corneal stroma, Dysphagia, Loss o... OMIM:214100
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Cataract, Brushfield spots, Heart murmur, Athetosi... OMIM:614866
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Fryns Syndrome
Corneal opacity ORPHA:2059
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Infantile Nephropathic Cystinosis
Corneal crystals, Abnormal cornea morphology, Cognitive impairment, Glycosuria, Polydipsia ORPHA:411629
Carpenter Syndrome 1
Microcornea, Pulmonic stenosis, Opacification of the corneal stroma OMIM:201000
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Cockayne Syndrome A
Cataract, Ataxia, Tremor, Hypertension, Dementia, Gait disturbance, Opacification of the corneal ... OMIM:216400
Mucopolysaccharidosis Type 6
Cognitive impairment, Opacification of the corneal stroma ORPHA:583
Osteogenesis Imperfecta
Aortic regurgitation, Corneal opacity, Ataxia, Cerebral hemorrhage, Gait disturbance, Dysphagia, ... ORPHA:666
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Corneal opacity, Iris coloboma ORPHA:2396
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Ataxia, Keratitis, Telangiecta... ORPHA:910
Galloway-Mowat Syndrome 1
Cataract, Ataxia, Hypoplasia of the iris, Opacification of the corneal stroma, Dystonia OMIM:251300
Cockayne Syndrome B
Ataxia, Tremor, Developmental cataract, Microcornea, Hypoplasia of the iris, Hypertension, Opacif... OMIM:133540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
3Mc Syndrome 3
Corneal opacity OMIM:248340
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Self-injurious behavior, Attention deficit hyperactivity disorder, Iris c... ORPHA:818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cataract, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnorm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cataract, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnorm... ORPHA:353277
Kindler Epidermolysis Bullosa
Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Mucopolysaccharidosis, Type Iva
Waddling gait, Opacification of the corneal stroma OMIM:253000
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Heart murmur, Hypertrophic cardiomyopathy, Mitral... OMIM:252500
Wiedemann-Rautenstrauch Syndrome
Cataract, Ataxia, Corneal opacity, Confusion, Tremor, Type II diabetes mellitus, Pulmonic stenosi... ORPHA:3455
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... ORPHA:90348
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... ORPHA:2273
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Opacification of the corneal stroma, Dysphagia OMIM:601559
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Larsen Syndrome
Corneal opacity OMIM:150250
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio... ORPHA:709
Chime Syndrome
Corneal opacity ORPHA:3474
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Wolf-Hirschhorn Syndrome
Megalocornea, Ataxia, Iris coloboma, Sclerocornea ORPHA:280
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Gaucher Disease, Type Iiic
Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Tangier Disease
Corneal opacity ORPHA:31150
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Meckel Syndrome
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea ORPHA:564
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... ORPHA:79280