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Gene: Sppl3 MGI:1891433

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Gene Summary

Name:
signal peptide peptidase 3
Synonyms:
4833416I09Rik,  Usmg3

Order Alleles

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
preweaning lethality, complete penetrance Sppl3em1(IMPC)Bay HOM   Early adult 0.00
abnormal body wall morphology Sppl3em1(IMPC)Bay HOM E18.5 0.00
decreased locomotor activity Sppl3em1(IMPC)Bay HET   Early adult 9.71×10-06
microphthalmia Sppl3em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Sppl3em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Sppl3em1(IMPC)Bay HOM E18.5 0.00
prolonged RR interval Sppl3em1(IMPC)Bay HET Early adult 4.23×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

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MicroCT E18.5

Embryo reconstruction

7 Images

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Human diseases caused by Sppl3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sppl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Pyknoachondrogenesis
Stillbirth OMIM:265880
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Gombo Syndrome
Microphthalmia OMIM:233270
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Short stature, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obes... ORPHA:3077
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Nanophthalmos
Microphthalmia ORPHA:35612
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Nanophthalmos 4
Microphthalmia OMIM:615972
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria... OMIM:620242
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Mmep Syndrome
Microphthalmia ORPHA:3434
Gm2 Gangliosidosis, Ab Variant
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Inappropriate behavi... ORPHA:309246
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Intrauterine growth retardation OMIM:616171
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Short stature, Postnatal growth retardation, Decreased body ... OMIM:608747
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Cofs Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1466
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Cln3 Disease
Ataxia, Bradykinesia, T-wave inversion, Bradycardia, Shuffling gait, Loss of ambulation ORPHA:228346
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:195
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Inguinal hernia ORPHA:1135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retarda... OMIM:603194
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Meckel Syndrome, Type 8
Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia OMIM:613885
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:48431
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation ORPHA:858
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Pierpont Syndrome
Microphthalmia ORPHA:487825
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Microphthalmia ORPHA:93267
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Truncal ataxia OMIM:614407
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Pierpont Syndrome
Microphthalmia OMIM:602342
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia OMIM:609286
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation ORPHA:290
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Temtamy Syndrome
Microphthalmia ORPHA:1777
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Intrauterine growth retardation OMIM:610756
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Inguinal hernia ORPHA:3191
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Inguinal hernia, Lens coloboma, Umbilical hernia OMIM:618914
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Illum Syndrome
Bradycardia OMIM:208155
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Intrauterine growth retardation OMIM:300863
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Manitoba Oculotrichoanal Syndrome
Omphalocele, Microphthalmia, Anophthalmia OMIM:248450
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Seckel Syndrome 2
Microphthalmia OMIM:606744
Pseudo-Torch Syndrome 2
Lethargy, Bradycardia, Cerebral hemorrhage OMIM:617397
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly ORPHA:2189
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Necrotizing Enterocolitis
Shock, Lethargy, Bradycardia, Hypotension ORPHA:391673
Nance-Horan Syndrome
Microphthalmia ORPHA:627
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Intrauterine growth retardation ORPHA:163966
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:494344
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Marden-Walker Syndrome
Microphthalmia, Inguinal hernia, Intrauterine growth retardation OMIM:248700
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Joubert Syndrome 37
Microphthalmia OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Inguinal hernia, Umbilical hernia ORPHA:2505
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Intrauterine growth retardation OMIM:616395
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Temtamy Syndrome
Microphthalmia OMIM:218340
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Tip-toe gait, Bradycardia ORPHA:565624
Fetal Alcohol Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1915
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Moebius Syndrome
Microphthalmia OMIM:157900
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Bradycardia OMIM:620351
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele OMIM:614424
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Intrauterine growth retardation ORPHA:2728
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos ORPHA:369891
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Spina bifida, Microphthalmia, Intrauterine growth retardation ORPHA:3412
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Inguinal hernia OMIM:616449
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Micro Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2510
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Martsolf Syndrome 1
Microphthalmia, Inguinal hernia OMIM:212720
Pseudotrisomy 13 Syndrome
Omphalocele, Microphthalmia, Encephalocele OMIM:264480
Galloway-Mowat Syndrome 3
Microphthalmia, Intrauterine growth retardation, Hiatus hernia OMIM:617729
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, C... ORPHA:353281
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation OMIM:613451
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly OMIM:619148
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Proximal Spinal Muscular Atrophy
Inability to walk, Bradycardia, Difficulty walking ORPHA:70
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Hiatus hernia OMIM:251300
D-Glyceric Aciduria
Bradycardia OMIM:220120
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Spina bifida, Hypoplasia of the iris, Umbilical hernia, Microphthalmia ORPHA:2092
1Q21.1 Microdeletion Syndrome
Microphthalmia, Inguinal hernia, Intrauterine growth retardation ORPHA:250989
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Trisomy 18
Omphalocele, Spina bifida, Anencephaly, Microphthalmia, Intrauterine growth retardation ORPHA:3380
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Mosaic Trisomy 9
Microphthalmia, Spina bifida, Intrauterine growth retardation ORPHA:99776
Ohdo Syndrome, X-Linked
Microphthalmia, Inguinal hernia, Hiatus hernia OMIM:300895
Mosaic Trisomy 1
Omphalocele, Microphthalmia ORPHA:1692
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Inguinal hernia, Anophthalmia ORPHA:2250
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:193
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Fanconi Anemia, Complementation Group F
Microphthalmia, Intrauterine growth retardation OMIM:603467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Fryns Syndrome
Omphalocele, Microphthalmia ORPHA:2059
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Inguinal hernia ORPHA:464738
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Microphthalmia, Encephalocele OMIM:616300
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Inguinal hernia, Intrauterine growth retardation OMIM:223370
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2714
Holoprosencephaly
Omphalocele, Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Meckel Syndrome 14
Microphthalmia, Occipital encephalocele OMIM:619879
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia ORPHA:90674
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Spina bifida ORPHA:2839
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Microphthalmia, Encephalocele, Umbilical hernia ORPHA:2166
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos OMIM:601186
2Q31.1 Microdeletion Syndrome
Microphthalmia, Inguinal hernia ORPHA:251014
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:364577
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation OMIM:227645
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida OMIM:234100
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Papillorenal Syndrome
Microphthalmia OMIM:120330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Bartsocas-Papas Syndrome 1
Omphalocele, Microphthalmia, Inguinal hernia, Intrauterine growth retardation OMIM:263650
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Pallister-Hall Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:146510
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fanconi Anemia, Complementation Group L
Microphthalmia, Intrauterine growth retardation OMIM:614083
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Holoprosencephaly 7
Omphalocele, Microphthalmia, Occipital meningocele, Bilateral microphthalmos OMIM:610828
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Hiatus hernia ORPHA:2538
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Atelis Syndrome 2
Microphthalmia OMIM:620185
Aicardi Syndrome
Microphthalmia, Spina bifida, Hiatus hernia OMIM:304050
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1052
Meckel Syndrome, Type 1
Omphalocele, Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine g... OMIM:249000
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
22Q11.2 Deletion Syndrome
Inguinal hernia, Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microph... ORPHA:567
Aicardi Syndrome
Microphthalmia, Hiatus hernia ORPHA:50
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Intrauterine growth retardation OMIM:616975
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Microphthalmia ORPHA:3186
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation OMIM:133540
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:620005
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Inguinal hernia OMIM:603457
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia, Inguinal hernia, Umbilical hernia ORPHA:534
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Inguinal hernia, Umbilical hernia OMIM:613884
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Fanconi Anemia
Spina bifida, Aplasia/Hypoplasia of the iris, Umbilical hernia, Microphthalmia, Intrauterine grow... ORPHA:84
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Inguinal hernia OMIM:609945
Monosomy 13Q14
Microphthalmia, Intrauterine growth retardation ORPHA:1587
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Anophthalmia, Hiatus hernia, Myelomeningocele, Umbilical hernia, An... OMIM:305600
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Tetraamelia Syndrome 1
Microphthalmia, Gastroschisis OMIM:273395
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Steinfeld Syndrome
Microphthalmia OMIM:184705
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Fryns Syndrome
Omphalocele, Microphthalmia OMIM:229850
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Fraser Syndrome 2
Microphthalmia OMIM:617666
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia, Intrauterine growth retardation OMIM:620186
Myhre Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:139210
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Fraser Syndrome
Omphalocele, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Degcags Syndrome
Microphthalmia, Intrauterine growth retardation, Hiatus hernia OMIM:619488
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation OMIM:608670
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Monosomy 9P
Microphthalmia ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Mend Syndrome
Microphthalmia ORPHA:401973
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia OMIM:300166
Charge Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:138
Fontaine Progeroid Syndrome
Microphthalmia, Umbilical hernia, Intrauterine growth retardation OMIM:612289
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia, Intrauterine... OMIM:256520
Hydrolethalus Syndrome 1
Omphalocele, Microphthalmia, Anencephaly, Intrauterine growth retardation OMIM:236680
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Cockayne Syndrome
Microphthalmia ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Bilateral microphthalmos ORPHA:93325
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Witteveen-Kolk Syndrome
Microphthalmia, Inguinal hernia, Intrauterine growth retardation, Branchial fistula OMIM:613406
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia OMIM:619539
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
8Q24.3 Microdeletion Syndrome
Branchial cyst, Inguinal hernia, Optic nerve hypoplasia, Bilateral microphthalmos, Intrauterine g... ORPHA:508488
Charge Syndrome
Omphalocele, Anophthalmia, Unilateral microphthalmos, Umbilical hernia, Microphthalmia OMIM:214800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Pallister-Hall Syndrome
Microphthalmia, Inguinal hernia, Umbilical hernia, Intrauterine growth retardation ORPHA:672
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation OMIM:113620
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Frontal encephalocele, Severe intrauterine growth retardation OMIM:268300
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sppl3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sppl3.

No publications found that use IMPC mice or data for Sppl3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sppl3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sppl3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sppl3em1(IMPC)Bay Exon Deletion Mice

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