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Gene: Gabra2 MGI:95614

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Gene Summary

Name:
gamma-aminobutyric acid (GABA) 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
limb grasping Gabra2em1(IMPC)H HOM Early adult 2.65×10-09
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 8.34×10-07
trunk curl Gabra2em1(IMPC)H HOM Early adult 8.43×10-06
limb grasping Gabra2em1(IMPC)H HOM   Middle aged adult 9.59×10-05
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 8.34×10-07
decreased locomotor activity Gabra2em1(IMPC)H HOM Early adult 9.63×10-09
increased anxiety-related response Gabra2em1(IMPC)H HOM Early adult 1.78×10-07
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.50×10-06
prolonged RR interval Gabra2em1(IMPC)H HOM   Early adult 4.54×10-06
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 5.03×10-07
decreased heart rate Gabra2em1(IMPC)H HOM   Early adult 1.06×10-05
decreased locomotor activity Gabra2em1(IMPC)H HOM   Late adult 2.72×10-05
decreased total body fat amount Gabra2em1(IMPC)H HOM Late adult 1.02×10-06
decreased fasting circulating glucose level Gabra2em1(IMPC)H HOM Early adult 5.00×10-06
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 4.32×10-05
corneal opacity Gabra2em1(IMPC)H HOM Early adult 1.93×10-06
increased grip strength Gabra2em1(IMPC)H HOM Late adult 6.24×10-06
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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Echo

M-Mode Images

67 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Gabra2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gabra2 by orthology or direct annotation.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Abnormal posturing, Writer's cramp, Leg dystonia, Difficulty walking, Depression, Dysphagia, Cran... OMIM:619565
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Cln3 Disease
Aggressive behavior, Memory impairment, Shuffling gait, Anxiety, T-wave inversion, Dementia, Atax... ORPHA:228346
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Dystonia 11, Myoclonic
Anxiety, Writer's cramp, Torticollis, Tremor, Depression, Panic attack, Agoraphobia, Alcoholism OMIM:159900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Dementia, Diabetes mellitus, Cataract, Depression, Arrhythmia, Dysphagia, Brady... OMIM:609286
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia ORPHA:3177
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome OMIM:617182
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Premature ventricular contraction, Hypoglycem... OMIM:212138
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Dystonia 12
Torticollis, Emotional lability, Tremor, Depression, Anxiety, Dysphagia, Unsteady gait, Dystonia,... OMIM:128235
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Huntington Disease-Like 2
Inertia, Apathy, Dementia, Dystonia, Action tremor, Depression, Anxiety, Subcortical dementia, Ir... OMIM:606438
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... OMIM:618815
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Tremor, Rea... ORPHA:276608
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Epilepsy, Progressive Myoclonic, 12
Anxiety, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depress... OMIM:619191
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Shuffling gait, Abnor... ORPHA:3077
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Limb dystonia, Torticollis, Emotional lability, Craniofacial dystoni... ORPHA:71517
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Maternal diabetes, Syncope, Neo... ORPHA:324575
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Apathy, Tremor, Dystonia, Depression, Anxiety, Mental deteriorati... ORPHA:240085
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Truncal ataxia, Intention tremor, Dystonia, Atrioventricular block, B... OMIM:614407
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Lethargy, Irritability, Restlessness OMIM:605899
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Dementia, Ataxia, Depression, Progressive cerebellar ataxia, Irritabi... ORPHA:248111
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Dementia, Depression, Anxiety, Dystonia, Bradykinesia OMIM:605909
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Torsion dyston... OMIM:128100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Bradycardia, Congestive heart failure OMIM:619048
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Syncope, Type I diabetes mellitus,... ORPHA:276580
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Dystonia, Bradycardia OMIM:616277
Huntington Disease-Like 1
Restlessness, Gait ataxia, Abnormal posturing, Cognitive impairment, Gait disturbance, Dementia, ... ORPHA:157941
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Syncope, Hyperinsulinemic hypoglycemia, Agitation, Hypertrophic cardiom... ORPHA:276556
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Cognitive impairment, Tip-toe gait, Inability to walk, Gait disturbance, Atte... ORPHA:216866
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Phenylketonuria
Hyperactivity, Aggressive behavior, Cataract, Attention deficit hyperactivity disorder, Blue irid... OMIM:261600
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait, Tremor OMIM:619470
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Hyperinsulinemic h... ORPHA:276575
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Tremor, Mental deterioration, Dysphagia, Dystonia OMIM:304700
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Dystonia, Bradycardia OMIM:614702
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Galactosialidosis
Corneal opacity ORPHA:351
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia, Tremor OMIM:300983
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Mental deterioration, Personality disorder ORPHA:2382
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Dystonia, Bradycardia OMIM:616299
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Depression, Anxiety, Bradycardia, Oral-pharyngeal dysphagia ORPHA:221098
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis, Dystonia ORPHA:382
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, Bradycardia, Sick sinu... ORPHA:542306
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting,... OMIM:619827
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia OMIM:271310
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... ORPHA:98818
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Timothy Syndrome
Hypoglycemia, Bradycardia, Prolonged QT interval OMIM:601005
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Bradycardia OMIM:614654
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Sporadic Infantile Bilateral Striatal Necrosis
Gait ataxia, Abnormal posturing, Resting tremor, Titubation, Inappropriate crying, Gait disturban... ORPHA:225147
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Wagro Syndrome
Aggressive behavior, Hypertension, Agitation, Emotional lability, Cataract, Polyphagia, Corneal o... OMIM:612469
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Trimethylaminuria
Tachycardia, Hypertension, Depression OMIM:602079
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia OMIM:615924
Tetanus
Hypertension, Tremor, Dysphagia, Opisthotonus, Bradycardia, Tachycardia ORPHA:3299
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Aggressive behavior, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyperactivi... OMIM:152950
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Winchester Syndrome
Corneal opacity OMIM:277950
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Adult-Onset Cervical Dystonia, Dyt23 Type
Writer's cramp, Supraventricular arrhythmia, Torticollis, Focal dystonia, Head tremor, Axial dyst... ORPHA:420492
Morm Syndrome
Cataract, Aggressive behavior, Hyperactivity ORPHA:75858
Mucolipidosis Iv
Progressive neurologic deterioration, Opacification of the corneal stroma, Dystonia, Corneal opacity OMIM:252650
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... OMIM:261740
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Harel-Yoon Syndrome
Inability to walk, Developmental cataract, Ataxia, Hypertrophic cardiomyopathy, Corneal opacity, ... OMIM:617183
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Iris hypopigmentation, Happy demeanor, Ataxia, Inappropriate laughter, Polyphagia,... ORPHA:411515
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Coproporphyria, Hereditary
Tachycardia, Hypertension, Depression, Anxiety OMIM:121300
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity ORPHA:577
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Morquio Syndrome C
Corneal opacity OMIM:252300
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder, Bipolar affective disorder OMIM:619927
Alcohol Dependence
Alcoholism OMIM:103780
Alpha-Mannosidosis, Adult Form
Ataxia, Aortic regurgitation, Cataract, Corneal opacity, Depression, Anxiety ORPHA:309288
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Corneal scarring, Emotional lability, Keratitis, Opacification of the corneal stro... OMIM:256800
Necrotizing Enterocolitis
Hypotension, Abnormal glucose homeostasis, Shock, Hyperglycemia, Lethargy, Bradycardia ORPHA:391673
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Inability to walk, Tremor OMIM:618718
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Facial telangiectasia, Developmental cataract, Impulsivity, A... OMIM:620141
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Stiff-Person Syndrome
Exaggerated startle response, Hypertension, Diabetes mellitus, Depression, Anxiety, Agoraphobia, ... OMIM:184850
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Wolff-Parkinson-White synd... ORPHA:137675
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Unsteady gait, Self-mutilation OMIM:615516
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cln5 Disease
Hyperactivity, Aggressive behavior, Inability to walk, Anxiety, Truncal ataxia, Dysdiadochokinesi... ORPHA:228360
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Neonatal hypoglycemia, Leg dystonia, Loss of ambulation, Bradycardia ORPHA:565624
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety OMIM:271980
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Motor deterioration, Emotional lability, Dementia, Loss of ambulation, Depr... ORPHA:79264
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor OMIM:618090
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Impulsivity, Dysphagia, Dystonia ORPHA:500180
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Encephalitis Lethargica
Tremor, Lethargy, Bradycardia, Mental deterioration ORPHA:83600
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon ORPHA:1473
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Hyperactivity, Cognitive impairment, Limb dystonia, Insulin resist... ORPHA:363400
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Emotional lability, Diabetes mellitus, Difficulty walking, A... ORPHA:3198
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Depression, Anxiety OMIM:619467
Norrie Disease
Aggressive behavior, Leukocoria, Hypoplasia of the iris, Dementia, Buphthalmos, Shallow anterior ... OMIM:310600
Early-Onset Schizophrenia
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... ORPHA:96369
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Anxiety, Oculogyric crisis, Hypertension, Agitation, Hypertensiv... ORPHA:94093
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Postural tremor, Resting tremor, Leg dystonia, Anxiety, Bradykinesia OMIM:606324
D-Glyceric Aciduria
Hypoglycemia, Bradycardia, Opisthotonus OMIM:220120
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia ORPHA:87876
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Loss of ambulation, Palpitations, Difficulty walking, Second degree atrioventricular blo... OMIM:616812
Erythrokeratodermia Variabilis
Diabetes mellitus, Cataract, Corneal opacity ORPHA:317
Hyperinsulinism Due To Hnf4A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Neonatal hypoglycemia, Hyperinsulinemic h... ORPHA:263455
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... OMIM:614170
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis OMIM:620023
Lujo Hemorrhagic Fever
Hypotension, Anxiety, Resting tremor, Subconjunctival hemorrhage, Shock, Dysphagia, Mental deteri... ORPHA:319213
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Bipolar affective disorder, Depressi... ORPHA:485350
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity, Inability to walk OMIM:166300
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Inability to walk, Hemidystonia, Emotional lability, Attenti... ORPHA:1929
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Prolonged QT interval, Dysphagia, Bradycardia, Tachycardia,... OMIM:613327
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Hypoglycemia, Irritability, Tachycardia OMIM:229700
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Heart murmur, Neonatal hypoglycemia, Attention deficit hyperactivity disorder, Anx... OMIM:617600
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Self-injurious behavior, Bipolar affective disorder, Ataxia,... OMIM:601853
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Opisthotonus, Bradycardia OMIM:619272
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Abnormal Hair, Joint Laxity, And Developmental Delay
Aggressive behavior, Impulsivity, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Pseudo-Torch Syndrome 2
Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Attention deficit hyperactivity disorder, Bradycardia, Depression ORPHA:90674
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Pediatric-Onset Graves Disease
Hyperactivity, Sinus tachycardia, Congestive heart failure, Hypertension, Emotional lability, Pol... ORPHA:525731
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity OMIM:607016
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia, Congestive heart failure OMIM:275000
Acitretin/Etretinate Embryopathy
Antecubital pterygium, Third degree atrioventricular block, Bradycardia ORPHA:40366
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Serotonin Syndrome
Hypotension, Mydriasis, Hypertension, Agitation, Tremor, Anxiety, Mental deterioration, Irritabil... ORPHA:43116
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Gm1 Gangliosidosis
Oral aversion, Cognitive impairment, Gait disturbance, Congestive heart failure, Ataxia, Tremor, ... ORPHA:354
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Spastic gait, Hypertrophic cardiomyopathy, Cataract, Corneal opacity ORPHA:496790
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Bradycardia, Dilated cardiomyopathy OMIM:610768
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsivity, Dysmetria, Menta... OMIM:610217
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... ORPHA:216694
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Illum Syndrome
Bradycardia OMIM:208155
Sialidosis Type 1
Gait disturbance, Ataxia, Cataract, Tremor, Corneal opacity ORPHA:812
Cystinosis
Gait disturbance, Type I diabetes mellitus, Corneal opacity, Portal hypertension, Polydipsia ORPHA:213
Acquired Methemoglobinemia
Syncope, Arrhythmia, Palpitations, Anxiety, Tachycardia ORPHA:464453
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Type I diabetes mellitus ORPHA:290
Infantile Neuroaxonal Dystrophy
Hyperactivity, Choking episodes, Gait disturbance, Psychomotor deterioration, Emotional lability,... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Inability to walk, Motor deterioration, Gait disturbance, Men... ORPHA:168491
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Cataract, Tremor, Dystonia, Dysphagia, Bradycardia OMIM:617248
Alpha-Mannosidosis
Type II diabetes mellitus, Cataract, Corneal opacity ORPHA:61
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Developmental cataract, Ataxia, Cataract, Dysmetria, Corneal opacity ORPHA:93400
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Cognitive impairment, Gait disturbance, Dementia, Attention d... ORPHA:43
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Insulin r... ORPHA:3163
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Ataxia, Abnormal cornea morphology, Corneal opacity, Athetosis, Dystonia ORPHA:357058
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia, Ataxia OMIM:230650
Proximal Spinal Muscular Atrophy
Bradycardia, Difficulty walking, Inability to walk, Dysphagia ORPHA:70
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Hypertension, Diabetes mellitus, Att... ORPHA:449291
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Gait disturbance, Hypertension, Ataxia, Heterochromia... ORPHA:1764
Fabry Disease
Cognitive impairment, Mucosal telangiectasiae, Anxiety, Transient ischemic attack, Bundle branch ... ORPHA:324
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, Iris hypopigmentation, Happy demeanor, Ataxia, Inappropriate laugh... ORPHA:98794
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Lethargy OMIM:614857
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Arrhythmia OMIM:600430
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract OMIM:616603
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Attention deficit hyperactivity disorder ORPHA:461
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Abnormal left ventricular function, Subdural hemorrhage, Capillary l... ORPHA:99827
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia, Tachycardia OMIM:614653
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Aggressive behavior, Ataxia, Impulsivity, Anxiety, Dystonia, Pulmonic stenosis OMIM:616977
Hurler-Scheie Syndrome
Corneal opacity, Cardiomyopathy ORPHA:93476
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Juvenile Sialidosis Type 2
Ataxia, Dysmetria, Cataract, Loss of ambulation, Corneal opacity, Dysphagia ORPHA:93399
Wilson Disease
Aggressive behavior, Hypersexuality, Difficulty walking, Kayser-Fleischer ring, Depression ORPHA:905
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Happy demeanor, Inappropriate... OMIM:103050
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Gait disturbance OMIM:271630
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Marburg Hemorrhagic Fever
Hypotension, Aggressive behavior, Hypovolemia, Internal hemorrhage, Shock, Pericarditis, Hypoglyc... ORPHA:99826
Paragangliomas 3
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... OMIM:605373
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Skin-picking, Nail-biting, Anxiety, Tach... ORPHA:485405
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Generalized dystonia, Aggressive behavior, Dilated cardiomyopathy, Ataxia, Cataract,... OMIM:618321
Mucopolysaccharidosis Type 3
Hyperactivity, Aggressive behavior, Reduced left ventricular ejection fraction, Hypersexuality, D... ORPHA:581
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation OMIM:618775
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Angelman Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety, Inability to walk, Iris hyp... ORPHA:72
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Distal Monosomy 6P
Posterior embryotoxon, Self-injurious behavior, Hypoplasia of the iris, Anterior synechiae of the... ORPHA:96125
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... OMIM:610042
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Neurotrophic Keratopathy
Corneal scarring, Allodynia, Corneal stromal edema, Diabetes mellitus, Astigmatism, Corneal perfo... ORPHA:137596
Sheehan Syndrome
Bradycardia, Orthostatic hypotension, Hypoglycemia, Palpitations ORPHA:91355
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Bartsocas-Papas Syndrome 2
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Myotonic Dystrophy 2
Right bundle branch block, Insulin insensitivity, Type II diabetes mellitus, Posterior subcapsula... OMIM:602668
Sepsis In Premature Infants
Hypotension, Bradycardia, Tachycardia ORPHA:90051
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Type I diabetes mellitus, Sinus bradycardia OMIM:618397
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Incontinentia Pigmenti
Pulmonary arterial hypertension, Retinal hemorrhage, Cognitive impairment, Cerebral ischemia, Gai... ORPHA:464
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hyperactivity, Aggressive behavior, Asymmetric septal hyper... OMIM:252920
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
Paragangliomas 1
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... OMIM:168000
Bohring-Opitz Syndrome
Bradycardia, Happy demeanor, Inability to walk ORPHA:97297
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Scl... OMIM:300952
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Zellweger Syndrome
Brushfield spots, Cognitive impairment, Posterior embryotoxon, Cataract, Corneal opacity ORPHA:912
Sandifer Syndrome
Hematemesis, Abnormal posturing, Torticollis ORPHA:71272
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Congenital Primary Aphakia
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Ataxia, Skin-picking, Mental deterioration, Low frustration t... ORPHA:163681
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Abnormal left ventricular function, Pulmonic stenosis, Corneal opacity OMIM:301056
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Aortic regurgitation, Astigmatism, Attention deficit hyperactivity disorder, Co... ORPHA:464311
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ante... ORPHA:91495
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Ectopia lentis, Anterior sub... OMIM:106210
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Memory impairment, Tremor, Abnormal eating behavior, Lethargy... ORPHA:247585
Mucopolysaccharidosis, Type Ivb
Ataxia, Mitral regurgitation, Corneal opacity, Aortic valve stenosis, Opacification of the cornea... OMIM:253010
Choreoacanthocytosis
Hair-pulling, Blepharospasm, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... ORPHA:2388
Mucopolysaccharidosis Type 2
Hyperactivity, Aggressive behavior, Cognitive impairment, Hypertension, Impulsivity, Corneal opac... ORPHA:580
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Corneal opacity OMIM:607015
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Aortic regurgitation, Astigmatism, Corneal opacity, Anxiety, Aor... ORPHA:464306
Tbck-Related Intellectual Disability Syndrome
Cognitive impairment, Inability to walk, Bipolar affective disorder, Corneal opacity, Pulmonic st... ORPHA:488632
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... ORPHA:1830
Alpha-Mannosidosis, Infantile Form
Ataxia, Aortic regurgitation, Astigmatism, Cataract, Mitral regurgitation, Corneal opacity, Depre... ORPHA:309282
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Corneal opacity, Ataxia OMIM:272200
Hurler Syndrome
Aortic regurgitation, Mitral regurgitation, Corneal opacity, Progressive neurologic deterioration... OMIM:607014
Scorpion Envenomation
Mydriasis, Glycosuria, Cardiogenic shock, T-wave inversion, Prominent U wave, Bundle branch block... ORPHA:466677
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Iris hypopigmentation, Ataxia, Cataract, Corneal opacity, Athetosis ORPHA:2719
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Scheie Syndrome
Aortic regurgitation, Corneal opacity ORPHA:93474
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Cataract, Corneal opacity ORPHA:585
Mucopolysaccharidosis Type 4
Gait disturbance, Cognitive impairment, Corneal opacity ORPHA:582
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Norrie Disease
Abnormal pupil morphology, Self-injurious behavior, Hypoplasia of the iris, Anterior chamber syne... ORPHA:649
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea ORPHA:1806
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Akinesia, Choreoathetosis, Gait disturbance, Dementia, Ataxia, Trem... OMIM:234200
Hurler Syndrome
Hypertension, Angina pectoris, Corneal opacity, Depression, Cardiomyopathy ORPHA:93473
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Aggressive behavior, Keratoconjunctivitis sicca, Buphthalmos, Attention deficit hyperactivity dis... ORPHA:495875
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Lethargy, Bradycardia ORPHA:226307
Walker-Warburg Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:899
Vici Syndrome
Abnormal posturing, Ocular albinism, Congestive heart failure, Developmental cataract, Dilated ca... OMIM:242840
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea OMIM:615145
Dyggve-Melchior-Clausen Disease
Difficulty walking, Hyperactivity, Corneal opacity, Inability to walk ORPHA:239
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Astigmatism, Difficulty walking, Sinus bradycardia, Dysphagia OMIM:619482
Oculocerebrocutaneous Syndrome
Iris coloboma, Corneal opacity ORPHA:1647
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Microphthalmia With Brain And Digit Anomalies
Iris coloboma, Cataract, Sclerocornea, Microcornea ORPHA:139471
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea ORPHA:284160
Congenital Disorder Of Deglycosylation 1
Restlessness, Impaired oropharyngeal swallow response, Dysmetria, Impaired oral bolus formation, ... OMIM:615273
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Pulmonary insufficiency, Tricuspid regurgitation, Sinus tachycar... OMIM:253200
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Pete... OMIM:612582
Focal Dermal Hypoplasia
Cognitive impairment, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal opacity, Tel... ORPHA:2092
Lcat Deficiency
Corneal opacity ORPHA:650
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Conjunctival hyperemia ORPHA:2399
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Williams Syndrome
Sudden cardiac death, Aplasia/Hypoplasia of the iris, Supravalvular aortic stenosis, Hypertrophic... ORPHA:904
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
De Barsy Syndrome
Cataract, Athetosis, Corneal opacity, Progressive cerebellar ataxia ORPHA:2962
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Mucopolysaccharidosis, Type Vii
Corneal opacity, Cardiomyopathy OMIM:253220
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Impulsivity, Tremor, Attention deficit hyperactivity disorder, Difficulty walking, Mental... ORPHA:442835
Paragangliomas 4
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... OMIM:115310
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar... OMIM:309801
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal cornea morphology, Bradycardia, Dilated cardiomyopathy ORPHA:79404
Schimke Immunoosseous Dysplasia
Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Hypertension, Asti... OMIM:242900
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Farber Disease
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma ORPHA:333
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hypoplasia of the iris, Polycoria, Limb... OMIM:175780
Yellow Fever
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Internal hemorrhage, Sho... ORPHA:99829
Gaucher Disease
Pulmonary arterial hypertension, Ataxia, Tremor, Corneal opacity, Depression, Dysphagia ORPHA:355
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Congestive heart failure, Corneal opacity ORPHA:579
Neurofibromatosis Type 1
Hypertension, Ataxia, Cataract, Heterochromia iridis, Attention deficit hyperactivity disorder, C... ORPHA:636
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Gait disturbance, Peripheral opacification of the cornea OMIM:259600
Oculocerebrorenal Syndrome Of Lowe
Abnormal pupil morphology, Lentiglobus, Self-injurious behavior, Buphthalmos, Cataract, Attention... ORPHA:534
Wilson Disease
Glycosuria, Limb dystonia, Hand tremor, Dementia, Tremor, Kayser-Fleischer ring, Dysphagia, Dystonia OMIM:277900
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity OMIM:120200
Mucopolysaccharidosis Type 2, Severe Form
Cognitive impairment, Heart murmur, Hypertension, Corneal opacity, Arrhythmia, Mental deteriorati... ORPHA:217085
Legius Syndrome
Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Cataract, Attention deficit h... ORPHA:137605
Fucosidosis
Corneal opacity ORPHA:349
Mucopolysaccharidosis Type 2, Attenuated Form
Cognitive impairment, Heart murmur, Hypertension, Corneal opacity, Arrhythmia, Mental deteriorati... ORPHA:217093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Megalocornea, Buphthalmos, Cataract, Peters anomaly, Corneal opacity OMIM:236670
3Q29 Microduplication Syndrome
Iris coloboma, Sclerocornea, Aniridia, Cataract ORPHA:251038
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
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
Pulmonary arterial hypertension, Left ventricular diastolic dysfunction, Shuffling gait, Transien... ORPHA:740
Pseudo-Torch Syndrome 1
Cataract, Dystonia, Opacification of the corneal stroma OMIM:251290
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation,... ORPHA:2556
Spondylodysplastic Ehlers-Danlos Syndrome
Megalocornea, Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Aortic valve stenos... ORPHA:536471
Oculoectodermal Syndrome
Hyperactivity, Transient ischemic attack, Limbal dermoid, Microcornea, Astigmatism, Hypertrophic ... OMIM:600268
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Angina pectoris ORPHA:425
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Corneal stromal edema OMIM:601812
Stromme Syndrome
Microcornea, Iris coloboma, Peters anomaly, Cataract, Sclerocornea OMIM:243605
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Heart murmur, Aortic regurgitation, Athetosis, Cataract, Mitral regurgitation, ... OMIM:614866
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Hyperactivity, Abnormal emotion/affect beha... ORPHA:642
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Fryns Syndrome
Corneal opacity ORPHA:2059
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Carpenter Syndrome 1
Opacification of the corneal stroma, Pulmonic stenosis, Microcornea OMIM:201000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Opacification of the corneal stroma, Cataract, Loss of ambulation, Dysphagia, U... OMIM:214100
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ... OMIM:158310
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity ORPHA:1052
Unilateral Polymicrogyria
Epistaxis, Pseudobulbar paralysis, Abnormal posturing ORPHA:268943
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Iris coloboma, Corneal opacity ORPHA:2396
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma OMIM:214110
Cockayne Syndrome A
Gait disturbance, Hypertension, Dementia, Ataxia, Cataract, Tremor, Arrhythmia, Opacification of ... OMIM:216400
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Cognitive impairment ORPHA:583
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Xeroderma Pigmentosum
Telangiectasia, Cognitive impairment, Pterygium, Ataxia, Cataract, Conjunctival telangiectasia, T... ORPHA:910
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Sclerocornea, Cataract, Microcornea OMIM:615877
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Cockayne Syndrome B
Hypoplasia of the iris, Hypertension, Developmental cataract, Microcornea, Ataxia, Tremor, Arrhyt... OMIM:133540
Osteogenesis Imperfecta
Cerebral hemorrhage, Gait disturbance, Ataxia, Aortic regurgitation, Loss of ambulation, Corneal ... ORPHA:666
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Ataxia, Cataract, Opacification of the corneal stroma, Dystonia OMIM:251300
3Mc Syndrome 3
Corneal opacity OMIM:248340
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Iris coloboma, Cataract, Attention deficit hyperactivity disorder, Scler... ORPHA:818
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Limb ataxia, Corneal opacity, ... ORPHA:2072
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Waddling gait OMIM:253000
Autosomal Dominant Cutis Laxa
Congestive heart failure, Developmental cataract, Aortic regurgitation, Mitral regurgitation, Cor... ORPHA:90348
Mucolipidosis Ii Alpha/Beta
Megalocornea, Tip-toe gait, Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertr... OMIM:252500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Conjunctivitis, Corneal erosion, Dementia, Astigmatism, Corneal opacity, Mental deterioration, Ke... ORPHA:2273
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Wiedemann-Rautenstrauch Syndrome
Truncal ataxia, Type II diabetes mellitus, Ataxia, Cataract, Tremor, Corneal opacity, Action trem... ORPHA:3455
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity, Dysphagia ORPHA:2908
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Larsen Syndrome
Corneal opacity OMIM:150250
Stuve-Wiedemann Syndrome 1