Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Gabra2em1(IMPC)H HOM Early adult 9.63×10-09
decreased exploration in new environment Gabra2em1(IMPC)H HOM Early adult 4.32×10-05
hyperactivity Gabra2em1(IMPC)H HOM   Early adult 3.11×10-11
increased lean body mass Gabra2em1(IMPC)H HOM Late adult 5.03×10-07
prolonged RR interval Gabra2em1(IMPC)H HOM   Early adult 4.54×10-06
trunk curl Gabra2em1(IMPC)H HOM Early adult 8.43×10-06
increased thigmotaxis Gabra2em1(IMPC)H HOM Early adult 8.34×10-07
abnormal behavior Gabra2em1(IMPC)H HOM Early adult 8.34×10-07
increased grip strength Gabra2em1(IMPC)H HOM Late adult 6.24×10-06
corneal opacity Gabra2em1(IMPC)H HOM Early adult 1.93×10-06
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
decreased heart rate Gabra2em1(IMPC)H HOM   Early adult 1.06×10-05
limb grasping Gabra2em1(IMPC)H HOM   Middle aged adult 9.59×10-05
limb grasping Gabra2em1(IMPC)H HOM Early adult 2.65×10-09
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
limb grasping Gabra2em1(IMPC)H HOM Late adult 1.50×10-06

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

12 Images


M-Mode Images

67 Images


XRay Images Whole Body Dorso Ventral

12 Images

Human diseases caused by Gabra2 mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Alcohol Dependence
Alcoholism OMIM:103780
Non-Specific Early-Onset Epileptic Encephalopathy
Unsteady gait, Ataxia, Difficulty walking, Attention deficit hyperactivity disorder, Tremor, Ment... 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
Matching phenotypes Source
Dystonia 31
Leg dystonia, Difficulty walking, Generalized dystonia, Writer's cramp, Dysphagia, Abnormal postu... OMIM:619565
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Cln3 Disease
Cataract, Ataxia, Anxiety, Loss of ambulation, Dementia, Memory impairment, Dysphagia, Mental det... ORPHA:228346
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Dystonia 11, Myoclonic
Agoraphobia, Torticollis, Alcoholism, Anxiety, Writer's cramp, Tremor, Panic attack, Depression OMIM:159900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Gait disturbance, Diabetes mellitus, Arrhythmia, Cardiomyopathy, Dementia, Dysphagia, B... OMIM:609286
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Progressive cerebellar ataxia, Ataxia ORPHA:3177
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Neonatal hypoglycemia, Hypotension, Cardiomyopathy, Irri... OMIM:212138
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Dystonia 12
Emotional lability, Torticollis, Unsteady gait, Anxiety, Tremor, Dysphagia, Bradykinesia, Depress... OMIM:128235
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Generalized dystonia, Irritability, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Irritability, Memory impairment, Bradyk... OMIM:606438
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental ... OMIM:618815
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Agitation, Progressive neurologic deterioration, Reactive hypoglycemia, Let... ORPHA:276608
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
Epilepsy, Progressive Myoclonic, 12
Ataxia, Difficulty walking, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... OMIM:619191
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Irritability, ... ORPHA:3077
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Rapid-Onset Dystonia-Parkinsonism
Emotional lability, Limb dystonia, Torticollis, Anxiety, Dysphagia, Gait ataxia, Bradykinesia, Re... ORPHA:71517
Long Qt Syndrome 16
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans OMIM:618782
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Hartnup Disorder
Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Agitation, Syncope, P... ORPHA:324575
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Impaired glucose tolerance, Intention tremor, Glucose intolerance, Atrioventricular blo... OMIM:614407
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Falls, Anxiety, Memory impairment, Tremor, Mental deterioration, Bradykinesia, Neuromuscu... ORPHA:240085
Aminoacylase 1 Deficiency
Bradycardia, Hyperactivity OMIM:609924
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... OMIM:601419
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Lethargy, Aggressive behavior, Impulsivity OMIM:605899
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Juvenile Huntington Disease
Hyperactivity, Progressive cerebellar ataxia, Broad-based gait, Ataxia, Dementia, Irritability, B... ORPHA:248111
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Bradykinesia, Resting tremor, Depression, Dystonia OMIM:605909
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Dysphagia, Hypertrophic cardiomyopathy OMIM:616276
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Dysp... OMIM:128100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure, Hypoglycemia OMIM:619048
Huntington Disease-Like 1
Gait disturbance, Restlessness, Cognitive impairment, Dementia, Memory impairment, Bradykinesia, ... ORPHA:157941
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Agitation, Abnormal oral glucose tolerance, ... ORPHA:276580
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Dystonia, Hypertrophic cardiomyopathy OMIM:616277
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Agitation, Syncope, Palpitations, Recurrent hypoglycemia, Reactive hypoglycemia, Leth... ORPHA:276556
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Cognitive impairment, Attention deficit hyperactivity disord... ORPHA:216866
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Dermoids Of Cornea
Corneal opacity OMIM:304730
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... OMIM:614022
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Anxiety, Motor deterioration... ORPHA:412066
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Hyperlysinemia, Type I
Cognitive impairment, Ectopia lentis, Hyperactivity OMIM:238700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Fasting hypoglycemia, Agitation, Syncope, Palpitations, Lethargy, Hyperinsulinemia, H... ORPHA:276575
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Blue irides, Cataract, Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity d... OMIM:261600
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Aggressive behavior, Hyperactivity, Broad-based gait OMIM:619470
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Keratoconus, Bradycardia, Ventricular esc... ORPHA:542306
Mohr-Tranebjaerg Syndrome
Tremor, Mental deterioration, Dysphagia, Abnormal posturing, Dystonia OMIM:304700
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... ORPHA:98964
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hypoglycemia, Dystonia, Hypertrophic cardiomyopathy OMIM:614702
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... OMIM:163800
Corneal opacity ORPHA:351
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord... ORPHA:98818
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Dystonia OMIM:616299
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior, Mental deterioration, Personality disorder ORPHA:2382
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior, Dystonia ORPHA:382
Glossopharyngeal Neuralgia
Syncope, Anxiety, Oral-pharyngeal dysphagia, Bradycardia, Jaw claudication, Depression ORPHA:221098
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Hyperprolinemia, Type I
Aggressive behavior, Hyperactivity, Ataxia OMIM:239500
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Tremor, Aggressive behavior, Choreoathetosis, Dystonia OMIM:612716
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Aggressive behavior, Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity, Agitation OMIM:309548
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... OMIM:601005
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Mem... OMIM:619827
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Corneal stromal edema, Ataxia OMIM:271310
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... ORPHA:98960
Fraxe Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Agitation ORPHA:100973
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... ORPHA:66529
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Dystonia OMIM:614654
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia OMIM:615924
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Titubation, Dysphagia, Bradykinesia, Gait ataxia, Abnormal posturing, Resting t... ORPHA:225147
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Hypertension, Depression, Tachycardia OMIM:602079
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... ORPHA:101016
Wagro Syndrome
Polyphagia, Emotional lability, Cataract, Agitation, Anxiety, Hypertension, Aniridia, Corneal opa... OMIM:612469
Idiopathic Congenital Hypothyroidism
Bradycardia, Lethargy ORPHA:95717
Hypertension, Tremor, Dysphagia, Opisthotonus, Bradycardia, Tachycardia ORPHA:3299
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Agitation, Astigmatism, Attention deficit hyperactivity disorder, Corneal opacity, Myop... OMIM:152950
Morm Syndrome
Cataract, Aggressive behavior, Hyperactivity ORPHA:75858
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... OMIM:610202
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Mucolipidosis Iv
Corneal opacity, Progressive neurologic deterioration, Opacification of the corneal stroma, Dystonia OMIM:252650
Winchester Syndrome
Corneal opacity OMIM:277950
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Unsteady gait, Difficulty walking, Axial dystonia, Limb tremor, Focal dystonia, Writ... ORPHA:420492
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block, Opisthotonus OMIM:619814
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity OMIM:609425
Harel-Yoon Syndrome
Inability to walk, Ataxia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, ... OMIM:617183
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, ST segment elevation, Prolonged QRS complex, Neonatal hypoglycemia, Hypotension, Cardio... OMIM:261740
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... OMIM:601494
Coproporphyria, Hereditary
Anxiety, Hypertension, Depression, Tachycardia OMIM:121300
Mucolipidosis Type Iii
Cognitive impairment, Corneal opacity ORPHA:577
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Bipolar affective disorder, Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Alpha-Mannosidosis, Adult Form
Cataract, Ataxia, Anxiety, Aortic regurgitation, Corneal opacity, Depression ORPHA:309288
Morquio Syndrome C
Corneal opacity OMIM:252300
Alcohol Dependence
Alcoholism OMIM:103780
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Self-mutilation, Unsteady gait, Hyperactivity, Aggressive behavior OMIM:615516
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... ORPHA:330001
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Keratitis, Self-mutilation, Corneal ulceration, Hyperactivity, Recurrent corn... OMIM:256800
Necrotizing Enterocolitis
Hypotension, Hyperglycemia, Shock, Bradycardia, Lethargy, Abnormal glucose homeostasis ORPHA:391673
Limbal Stem Cell Deficiency
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... ORPHA:171673
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Tremor, Gait ataxia, Dysmetria OMIM:618090
Stiff-Person Syndrome
Agoraphobia, Diabetes mellitus, Anxiety, Hypertension, Exaggerated startle response, Opisthotonus... OMIM:184850
Cln5 Disease
Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Tremor, Men... ORPHA:228360
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Pulmonic stenosis, Facial telangiectasia, Attention deficit hyperactivity disorder... OMIM:620141
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Iris hypopigmentation, Hyperactivity, Ataxia, Happy demeanor, Broad-based gait ORPHA:411515
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Leg dystonia, Loss of ambulation, Tip-toe gait, Bradycardia ORPHA:565624
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Dystonia, Impulsivity ORPHA:500180
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Congenital aphakia, Wolff-Parkinson-White syn... ORPHA:137675
Obsolete: Early-Onset Schizophrenia
Polyphagia, Emotional lability, Impairment in personality functioning, Suicidal ideation, Restles... ORPHA:96369
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Juvenile Neuronal Ceroid Lipofuscinosis
Emotional lability, Cognitive impairment, Anxiety, Motor deterioration, Dementia, Progressive lan... ORPHA:79264
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy OMIM:608470
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Encephalitis Lethargica
Bradycardia, Mental deterioration, Lethargy, Tremor ORPHA:83600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hyperactivity, Ataxia, Cognitive impairment, Hypertension, Hyperinsulinemia, Tremo... ORPHA:363400
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma ORPHA:1473
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea OMIM:217300
Stiff Person Spectrum Disorder
Emotional lability, Agoraphobia, Difficulty walking, Falls, Diabetes mellitus, Anxiety, Exaggerat... ORPHA:3198
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Norrie Disease
Cataract, Dementia, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacit... OMIM:310600
Familial Thyroid Dyshormonogenesis
Bradycardia, Lethargy ORPHA:95716
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia ORPHA:87876
Neuroleptic Malignant Syndrome
Hypotension, Agitation, Arrhythmia, Anxiety, Hypertension, Pulmonary embolism, Oculogyric crisis,... ORPHA:94093
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Depression, Aggressive behavior OMIM:619467
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Postural tremor, Bradykinesia, Resting tremor OMIM:606324
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Hyperactivity, Self-injurious behavior OMIM:618718
D-Glyceric Aciduria
Bradycardia, Opisthotonus, Hypoglycemia OMIM:220120
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Aggressive behavior, Choreoathetosis OMIM:620023
Erythrokeratodermia Variabilis
Diabetes mellitus, Cataract, Corneal opacity ORPHA:317
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Syncope, Palpitations, Second degree atrioventricular block, Loss of ambulati... OMIM:616812
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Agitation, Progressive neurologic deteri... ORPHA:263455
Brittle Cornea Syndrome 2
Corneal perforation, Gait disturbance, Megalocornea, Keratoglobus, Decreased corneal thickness, K... OMIM:614170
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Progressive cerebellar ataxia, Unsteady gait, Anxiety, Bipolar affective disorder,... ORPHA:485350
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Anxiety, Dysphagia, Mental deterioration, Subconjunctival hemorrhage, S... ORPHA:319213
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Hyperinsulinemia, Dysphagia, Insulin resistance, Bradycardia, Prolonged QT interval,... OMIM:613327
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Inability to walk, Corneal opacity OMIM:166300
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Rasmussen Subacute Encephalitis
Emotional lability, Inability to walk, Hyperactivity, Cognitive impairment, Attention deficit hyp... ORPHA:1929
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Exaggerated startle response OMIM:608800
Aapoaiv Amyloidosis
Diabetes mellitus, Left ventricular outflow tract obstruction, Abnormal cardiac ventricular funct... ORPHA:439232
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy ORPHA:293621
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Cognitive impairment, Bipolar affective disorder, Self-injurious behavior,... OMIM:601853
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Tachycardia, Lethargy, Irritability OMIM:229700
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension, Opisthotonus OMIM:619272
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Pulmonic stenosis, Anxiety, Attention deficit hyperactivity... OMIM:617600
Pseudo-Torch Syndrome 2
Bradycardia, Lethargy, Cerebral hemorrhage OMIM:617397
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Attention deficit hyperactivity disorder, Depression, Lethargy ORPHA:90674
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia, Aggressive behavior, Impulsivity OMIM:261990
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Antecubital pterygium ORPHA:40366
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity OMIM:301013
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Aortic regurgitation OMIM:607016
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Pediatric-Onset Graves Disease
Polyphagia, Emotional lability, Hyperactivity, Sinus tachycardia, Palpitations, Hypertension, Irr... ORPHA:525731
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... ORPHA:293603
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Restlessness, Agitation, Anxiety, Aggressive behavior OMIM:300558
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Graves Disease, Susceptibility To, 1
Polyphagia, Congestive heart failure, Hyperactivity, Irritability OMIM:275000
Serotonin Syndrome
Mydriasis, Hypotension, Agitation, Restlessness, Anxiety, Hypertension, Irritability, Tremor, Men... ORPHA:43116
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Gm1 Gangliosidosis
Gait disturbance, Unsteady gait, Ataxia, Cognitive impairment, Cardiomyopathy, Generalized dyston... ORPHA:354
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Gait ataxia, Corneal opacity, Hypertrophic cardiomyopathy, Spastic gait ORPHA:496790
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Dysdiadochokinesis, Dysphagia, Mental deterioration, Intention... OMIM:610217
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Broad-based gait ORPHA:457260
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Hypoketotic hypoglycemia, Dilated cardiomyopathy OMIM:610768
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Long Qt Syndrome 3
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... OMIM:603830
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma OMIM:148200
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... OMIM:604229
Infantile Neuroaxonal Dystrophy
Emotional lability, Gait disturbance, Hyperactivity, Psychomotor deterioration, Ataxia, Unsteady ... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Hyperactivity, Gait disturbance, Ataxia, Astigmatism, Anxiety, Motor deteriora... ORPHA:168491
Gait disturbance, Polydipsia, Portal hypertension, Corneal opacity, Type I diabetes mellitus ORPHA:213
Sialidosis Type 1
Cataract, Gait disturbance, Ataxia, Tremor, Corneal opacity ORPHA:812
Illum Syndrome
Bradycardia OMIM:208155
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Type I diabetes mellitus ORPHA:290
Acquired Methemoglobinemia
Syncope, Anxiety, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Anxiety, Hypertension, Attention deficit hyperactivity disorder... ORPHA:449291
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Loss of ambulation, Waddling gait ORPHA:2788
Congenital Sialidosis Type 2
Cataract, Abnormal EKG, Ataxia, Telangiectasia, Corneal opacity, Developmental cataract, Dysmetria ORPHA:93400
Cataract, Type II diabetes mellitus, Corneal opacity ORPHA:61
3-Methylglutaconic Aciduria, Type Viii
Cataract, Neonatal hypoglycemia, Dysphagia, Tremor, Bradycardia, Dystonia OMIM:617248
Gm1-Gangliosidosis, Type Iii
Ataxia, Opacification of the corneal stroma, Dystonia OMIM:230650
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Corneal opacity ORPHA:281090
X-Linked Adrenoleukodystrophy
Gait disturbance, Hyperactivity, Disinhibition, Cognitive impairment, Attention deficit hyperacti... ORPHA:43
Short Syndrome
Diabetes mellitus, Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology,... ORPHA:3163
Familial Dysautonomia
Gait disturbance, Ataxia, Corneal erosion, Abnormal pupil morphology, Hypertension, Corneal opaci... ORPHA:1764
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Ataxia, Athetosis, Abnormal cornea morphology, Corneal opacity, Dystonia ORPHA:357058
Proximal Spinal Muscular Atrophy
Bradycardia, Inability to walk, Dysphagia, Difficulty walking ORPHA:70
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Pulmonic stenosis, Ataxia, Anxiety, Aggressive behavior, Dystonia, Impulsivity OMIM:616977
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Fabry Disease
Cataract, Mitral regurgitation, Telangiectasia of the skin, Arrhythmia, Hypertension, Mucosal tel... ORPHA:324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Hypertension, Bradycardia, Tachycardia, Retinal hemorrhage OMIM:614653
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... ORPHA:98963
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Lethargy, Abnormal posturing OMIM:614857
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974
Crimean-Congo Hemorrhagic Fever
Myocarditis, Agitation, Bundle branch block, Bradycardia, Epistaxis, Emotional lability, Pulmonar... ORPHA:99827
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Hurler-Scheie Syndrome
Cardiomyopathy, Corneal opacity ORPHA:93476
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Juvenile Sialidosis Type 2
Cataract, Ataxia, Loss of ambulation, Dysphagia, Corneal opacity, Dysmetria ORPHA:93399
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Wilson Disease
Difficulty walking, Hypersexuality, Aggressive behavior, Kayser-Fleischer ring, Depression ORPHA:905
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Ataxia, Generalized dystonia, Lethargy, Irritability, Gait ataxia, Dilated cardiomyopat... OMIM:618321
Marburg Hemorrhagic Fever
Hypotension, Capillary leak, Lethargy, Aggressive behavior, Conjunctival hyperemia, Subconjunctiv... ORPHA:99826
Paragangliomas 3
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Hypertension associated with pheochromocy... OMIM:605373
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Nail-biting, Anxiety, Attention deficit hyperactivity disorder, Skin-picking, Tach... ORPHA:485405
Mucopolysaccharidosis Type 3
Cataract, Gait disturbance, Hyperactivity, Reduced left ventricular ejection fraction, Ataxia, Di... ORPHA:581
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:137902
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... OMIM:609040
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... ORPHA:98962
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Iris hypopigmentation, Hyperactivity, Ataxia, Tremor, Dysphagia, Happy ... ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Recurrent corneal erosions, Corneal scarring, Keratoconjunctivit... ORPHA:293381
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Self-injurious behavior, Hypoplasia of th... ORPHA:96125
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Lethargy ORPHA:90673
Macular Corneal Dystrophy
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... ORPHA:98969
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Hyperactivity, Gait ataxia, Opisthotonus, Happy demeanor, Agg... OMIM:103050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... OMIM:221900
Angelman Syndrome
Polyphagia, Iris hypopigmentation, Inability to walk, Hyperactivity, Ataxia, Astigmatism, Anxiety... ORPHA:72
Oculomaxillofacial Dysostosis
Cognitive impairment, Corneal opacity ORPHA:1794
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Athetosis, Dystonia ORPHA:52503
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Progressive language deteriorati... OMIM:610042
Neurotrophic Keratopathy
Corneal perforation, Corneal ulceration, Diabetes mellitus, Recurrent corneal erosions, Astigmati... ORPHA:137596
Sheehan Syndrome
Bradycardia, Palpitations, Hypoglycemia, Orthostatic hypotension ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia, Type I diabetes mellitus, Dystonia OMIM:618397
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
Palpitations, Iridescent posterior subcapsular cataract, Premature ventricular contraction, Type ... OMIM:602668
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Astigmatism OMIM:270200
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Hyperactivity, Ataxia, Progressive language deterioration, Mental deterioration,... ORPHA:163681
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... OMIM:217700
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Hyperactivity, First degree atrioventricular block, Dysphagia, Bundle branch block, Bra... ORPHA:589821
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Incontinentia Pigmenti
Cataract, Pulmonary arterial hypertension, Gait disturbance, Cognitive impairment, Attention defi... ORPHA:464
Tyrosinemia Type 2
Tremor, Corneal opacity, Ataxia ORPHA:28378
Atopic Keratoconjunctivitis
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization ORPHA:163934
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Progressive neurologic deterioration, Aggressive behavior, Hyperac... OMIM:252920
Angelman Syndrome
Blue irides, Hyperactivity, Ataxia, Limb tremor, Progressive gait ataxia, Happy demeanor, Broad-b... OMIM:105830
Bohring-Opitz Syndrome
Bradycardia, Happy demeanor, Inability to walk ORPHA:97297
Paragangliomas 1
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Hypertension associated with pheochromocy... OMIM:168000
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Ventricular tachycardia, Sclerocornea, Dilated cardiomyopathy, Ventricular fibril... OMIM:300952
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Astigmatism, Anxiety, Attention deficit hyperactivity disorder, Aortic regurgit... ORPHA:464311
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... ORPHA:2041
Zellweger Syndrome
Cataract, Brushfield spots, Cognitive impairment, Corneal opacity, Posterior embryotoxon ORPHA:912
Sandifer Syndrome
Torticollis, Abnormal posturing, Hematemesis ORPHA:71272
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcornea ORPHA:2557
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Abnormal left ventricular function, Corneal opacity, Pulmonic stenosis OMIM:301056
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Citrullinemia Type Ii
Abnormal eating behavior, Hyperactivity, Restlessness, Irritability, Memory impairment, Tremor, L... ORPHA:247585
Persistent Hyperplastic Primary Vitreous
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... ORPHA:91495
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
Aniridia 1
Cataract, Ectopia pupillae, Increased proinsulin:insulin ratio, Ectopia lentis, Corneal erosion, ... OMIM:106210
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Hyperactivity, Astigmatism, Anxiety, Aortic regurgitation, Aortic valve stenosi... ORPHA:464306
Mucopolysaccharidosis, Type Ivb
Mitral regurgitation, Ataxia, Aortic valve stenosis, Corneal opacity, Opacification of the cornea... OMIM:253010
Loss of ambulation, Depression, Mental deterioration, Laryngeal dystonia, Bradyphrenia, Head-bang... ORPHA:2388
Mucopolysaccharidosis Type 2
Hyperactivity, Arrhythmia, Cardiomyopathy, Hypertension, Progressive neurologic deterioration, Co... ORPHA:580
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Ischemic stroke, Hypertension, Transient ischemic attack, Conges... ORPHA:1830
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity, Aortic regurgitation OMIM:607015
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Pulmonic stenosis, Cognitive impairment, Bipolar affective disorder, Corneal o... ORPHA:488632
Alpha-Mannosidosis, Infantile Form
Cataract, Mitral regurgitation, Ataxia, Astigmatism, Anxiety, Aortic regurgitation, Corneal opaci... ORPHA:309282
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation 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
Mitral regurgitation, Cardiomyopathy, Progressive neurologic deterioration, Aortic regurgitation,... OMIM:607014
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Iris hypopigmentation, Ataxia, Athetosis, Ocular albinism, Corneal opacity ORPHA:2719
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Aortic regurgitation OMIM:616603
Scorpion Envenomation
Myocarditis, Mydriasis, Restlessness, Ataxia, Glycosuria, Arrhythmia, Hypertension, Prominent U w... ORPHA:466677
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Hyperactivity, Ataxia, Blepharospasm, Dementia, Tremor, Dysphagia, Mental deter... OMIM:234200
Scheie Syndrome
Corneal opacity, Aortic regurgitation ORPHA:93474
Multiple Sulfatase Deficiency
Cataract, Rapid neurologic deterioration, Corneal opacity ORPHA:585
Lowry-Maclean Syndrome
Megalocornea, Corneal opacity, Developmental glaucoma ORPHA:2409
Mucopolysaccharidosis Type 4
Cognitive impairment, Gait disturbance, Corneal opacity ORPHA:582
Norrie Disease
Cataract, Anterior chamber synechiae, Ectopia lentis, Diabetes mellitus, Anxiety, Attention defic... ORPHA:649
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Sclerocornea, Microcornea ORPHA:1806
Hurler Syndrome
Cardiomyopathy, Hypertension, Angina pectoris, Corneal opacity, Depression ORPHA:93473
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Lethargy, Hypoglycemia ORPHA:226307
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Attention deficit hyperactivity disorder, Corneal dystrophy, Buphthal... ORPHA:495875
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Iris coloboma ORPHA:899
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Vici Syndrome
Cataract, Cardiomyopathy, Dysphagia, Ocular albinism, Congestive heart failure, Abnormal posturin... OMIM:242840
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Sclerocornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Dyggve-Melchior-Clausen Disease
Corneal opacity, Inability to walk, Hyperactivity, Difficulty walking ORPHA:239
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium ORPHA:1234
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Congenital Disorder Of Deglycosylation 1
Impaired oropharyngeal swallow response, Corneal ulceration, Restlessness, Impaired oral bolus fo... OMIM:615273
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, Astigmatism, Sinus bradycardia, Difficulty walking OMIM:619482
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, Iris coloboma ORPHA:139471
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Sclerocornea, Corneal opacity ORPHA:284160
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Lethargy OMIM:218700
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Opacification of the corneal stroma, Posterior embryotoxon, Axenfeld anomaly, Pet... OMIM:612582
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Mitral regurgitation, Sinus tachycardia, Cardiomyopathy, Tricusp... OMIM:253200
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Cognitive impairment, Hypoplasia of the iris, Corneal opacity, Tel... ORPHA:2092
Lcat Deficiency
Corneal opacity ORPHA:650
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Conjunctival hyperemia, Corneal opacity ORPHA:2399
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Williams Syndrome
Gait imbalance, Hypertrophic cardiomyopathy, Myocardial infarction, Aplasia/Hypoplasia of the iri... ORPHA:904
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
De Barsy Syndrome
Cataract, Corneal opacity, Progressive cerebellar ataxia, Athetosis ORPHA:2962
Non-Specific Early-Onset Epileptic Encephalopathy
Unsteady gait, Ataxia, Difficulty walking, Attention deficit hyperactivity disorder, Tremor, Ment... ORPHA:442835
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
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
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Corneal opacity OMIM:253220
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphakia, Posterior synechiae of the anterior chamber, Scl... OMIM:612109
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Arrhythmia, Junctional ectopic tachycardia, Sclerocornea, Histiocytoid c... OMIM:309801
Paragangliomas 4
Palpitations, Tachycardia, Episodic paroxysmal anxiety, Hypertension associated with pheochromocy... OMIM:115310
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Schimke Immunoosseous Dysplasia
Pulmonary arterial hypertension, Astigmatism, Hypertension, Transient ischemic attack, Cerebral i... OMIM:242900
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Abnormal cornea morphology, Dilated cardiomyopathy ORPHA:79404
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Limb dystonia, Polycoria, Cerebral hemorrhage, Astigmatism, Ischemic stroke, Hy... OMIM:175780
Yellow Fever
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... ORPHA:99829
Gaucher Disease
Pulmonary arterial hypertension, Ataxia, Tremor, Dysphagia, Corneal opacity, Depression ORPHA:355
Neurofibromatosis Type 1
Cataract, Ataxia, Hypertension, Attention deficit hyperactivity disorder, Memory impairment, Corn... ORPHA:636
Mucopolysaccharidosis Type 1
Congestive heart failure, Corneal opacity, Hypertrophic cardiomyopathy ORPHA:579
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Gait disturbance, Corneal opacity OMIM:259600
Oculocerebrorenal Syndrome Of Lowe
Cataract, Lentiglobus, Anxiety, Attention deficit hyperactivity disorder, Abnormal pupil morpholo... ORPHA:534
Al-Gazali Syndrome
Sclerocornea, Corneal opacity OMIM:609465
Wilson Disease
Limb dystonia, Hand tremor, Glycosuria, Dementia, Tremor, Dysphagia, Kayser-Fleischer ring, Dystonia OMIM:277900
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Legius Syndrome
Cataract, Hyperactivity, Pulmonic stenosis, Cognitive impairment, Attention deficit hyperactivity... ORPHA:137605
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Megalocornea, Buphthalmos, Corneal opacity, Peters anomaly OMIM:236670
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Cardiomyopathy, Hypertension, Cognitive impairment, Mental deterioration, Corneal opa... ORPHA:217085
Corneal opacity ORPHA:349
Mucopolysaccharidosis Type 2, Attenuated Form
Arrhythmia, Cardiomyopathy, Hypertension, Cognitive impairment, Mental deterioration, Corneal opa... ORPHA:217093
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Iris coloboma ORPHA:251038
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency OMIM:614437
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Hutchinson-Gilford Progeria Syndrome
Raynaud phenomenon, Left ventricular diastolic dysfunction, Pulmonary arterial hypertension, Mitr... ORPHA:740
Spondylodysplastic Ehlers-Danlos Syndrome
Iris coloboma, Pulmonic stenosis, Megalocornea, Aortic valve stenosis, Corneal opacity, Posterior... ORPHA:536471
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Dystonia OMIM:251290
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Arrhythmia, Tricuspid regurgitation, Sclerocornea, Corneal opacity, Dilated... ORPHA:2556
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Lens subluxation, Corneal opacity ORPHA:85167
Oculoectodermal Syndrome
Hyperactivity, Astigmatism, Transient ischemic attack, Opacification of the corneal stroma, Hyper... OMIM:600268
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Aortic regurgitation, Hyperopic astigmatism OMIM:252600
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)
Brushfield spots, Cataract, Mitral regurgitation, Aortic regurgitation, Athetosis, Tricuspid regu... OMIM:614866
Stromme Syndrome
Cataract, Iris coloboma, Sclerocornea, Microcornea, Peters anomaly OMIM:243605
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Corneal ulceration, Hyperactivity, Abnormal emotion/affect behavior, Difficulty ... ORPHA:642
Moebius Syndrome
Dysphagia, Corneal opacity ORPHA:570
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma OMIM:601499
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma ORPHA:77298
Fryns Syndrome
Corneal opacity ORPHA:2059
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma, Pulmonic stenosis OMIM:201000
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Unsteady gait, Loss of ambulation, Dysphagia, Opacification of the co... OMIM:214100
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... OMIM:158310
Unilateral Polymicrogyria
Epistaxis, Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Pulmonary arterial hypertension, Aortic valve stenosis, Iris coloboma ORPHA:2396
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Aortic regurgitation ORPHA:1052
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Opacification of the corneal stroma OMIM:214110
Cockayne Syndrome A
Cataract, Gait disturbance, Ataxia, Arrhythmia, Hypertension, Dementia, Tremor, Opacification of ... OMIM:216400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Ectopia pupillae, Microcornea OMIM:615877
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Mucopolysaccharidosis Type 6
Cognitive impairment, Opacification of the corneal stroma ORPHA:583
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Hypoplasia of the iris, Sclerocornea OMIM:613001
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Opacification of the corneal stroma, Conjunctival telangiectasia OMIM:256540
Xeroderma Pigmentosum
Cataract, Ataxia, Cognitive impairment, Telangiectasia, Pterygium, Opacification of the corneal s... ORPHA:910
Cockayne Syndrome B
Ataxia, Arrhythmia, Hypertension, Tremor, Hypoplasia of the iris, Opacification of the corneal st... OMIM:133540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Osteogenesis Imperfecta
Gait disturbance, Cerebral hemorrhage, Ataxia, Loss of ambulation, Aortic regurgitation, Dysphagi... ORPHA:666
Galloway-Mowat Syndrome 1
Cataract, Ataxia, Hypoplasia of the iris, Opacification of the corneal stroma, Dystonia OMIM:251300
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
3Mc Syndrome 3
Corneal opacity OMIM:248340
Smith-Lemli-Opitz Syndrome
Cataract, Iris coloboma, Attention deficit hyperactivity disorder, Self-injurious behavior, 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, Limb ataxia, Corneal opacity, Spontaneous, recurrent epistaxis, ... ORPHA:2072
Mucopolysaccharidosis, Type Iva
Waddling gait, Opacification of the corneal stroma OMIM:253000
Autosomal Dominant Cutis Laxa
Mitral regurgitation, Aortic regurgitation, Congestive heart failure, Corneal opacity, Developmen... ORPHA:90348
Mucolipidosis Ii Alpha/Beta
Mitral regurgitation, Megalocornea, Tip-toe gait, Aortic regurgitation, Congestive heart failure,... OMIM:252500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity ORPHA:79396
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal erosion, Astigmatism, Dementia, Conjunctivitis, Mental deterioration, Corneal opacity, Ke... ORPHA:2273
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Wiedemann-Rautenstrauch Syndrome
Cataract, Ataxia, Pulmonic stenosis, Tremor, Type II diabetes mellitus, Corneal opacity, Action t... ORPHA:3455
Larsen Syndrome
Corneal opacity OMIM:150250