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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
abnormal embryo size Sppl3em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Sppl3em1(IMPC)Bay HOM   Early adult 0.00
abnormal facial morphology Sppl3em1(IMPC)Bay HOM E18.5 0.00
prolonged RR interval Sppl3em1(IMPC)Bay HET Early adult 3.99×10-05
abnormal body wall morphology Sppl3em1(IMPC)Bay HOM E18.5 0.00
microphthalmia Sppl3em1(IMPC)Bay HOM E18.5 0.00
decreased locomotor activity Sppl3em1(IMPC)Bay HET   Early adult 8.68×10-06

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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

7 Images

View images

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, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... 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
Diaphragmatic Hernia 5, X-Linked
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
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Gombo Syndrome
Microphthalmia OMIM:233270
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... ORPHA:3077
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Nanophthalmos
Microphthalmia ORPHA:35612
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Nanophthalmos 4
Microphthalmia OMIM:615972
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Postnatal growth retardation, Short attention span, Aggressive beh... OMIM:620242
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Postnatal growth retardation, Cognitive i... ORPHA:309246
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Decreased bo... 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
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Lethargy,... OMIM:212138
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Microphthalmia ORPHA:1135
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Omphalocele, Microphthalmia, Meningocele, Anencep... OMIM:603194
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:2117
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Pierpont Syndrome
Microphthalmia ORPHA:487825
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Microphthalmia ORPHA:93267
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Pierpont Syndrome
Microphthalmia OMIM:602342
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Atrioventricular block, Bradycardia OMIM:614407
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Gait disturbance, Cardiomyopathy, Bradycardia OMIM:609286
Congenital Rubella Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Temtamy Syndrome
Microphthalmia ORPHA:1777
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia OMIM:136760
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Oligomenorrhea, Abdominal obesity OMIM:219090
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia OMIM:610756
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Microphthalmia ORPHA:3191
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Inguinal hernia, Umbilical hernia OMIM:618914
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:611134
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia OMIM:300863
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Illum Syndrome
Bradycardia OMIM:208155
Trisomy 13
Aplasia/Hypoplasia of the iris, Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:3378
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:228390
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Hydrolethalus
Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Omphalocele, Microphthalmia OMIM:248450
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Microphthalmia OMIM:169550
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia ORPHA:370959
Nance-Horan Syndrome
Microphthalmia ORPHA:627
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia ORPHA:163966
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Seckel Syndrome 2
Microphthalmia OMIM:606744
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:494344
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Marden-Walker Syndrome
Intrauterine growth retardation, Inguinal hernia, Microphthalmia OMIM:248700
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Inguinal hernia, Umbilical hernia ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Joubert Syndrome 37
Microphthalmia OMIM:619185
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Monosomy 18P
Microphthalmia ORPHA:1598
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia OMIM:616395
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Necrotizing Enterocolitis
Shock, Lethargy, Hypotension, Bradycardia ORPHA:391673
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Rodrigues Blindness
Microphthalmia OMIM:268320
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1915
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Moebius Syndrome
Microphthalmia OMIM:157900
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Tip-toe gait, Bradycardia ORPHA:565624
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Waddling gait, Bradycardia OMIM:620351
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Joubert Syndrome 14
Meningocele, Encephalocele, Microphthalmia OMIM:614424
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia ORPHA:2728
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Vacterl With Hydrocephalus
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Spina bifida, Microphthalmia ORPHA:3412
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Microphthalmia OMIM:616449
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Frontorhiny
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia ORPHA:391474
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Micro Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2510
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Martsolf Syndrome 1
Inguinal hernia, Microphthalmia OMIM:212720
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia OMIM:618775
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Galloway-Mowat Syndrome 3
Hiatus hernia, Intrauterine growth retardation, Microphthalmia OMIM:617729
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Frontonasal Dysplasia 2
Intrauterine growth retardation, Encephalocele, Microphthalmia OMIM:613451
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Microphthalmia OMIM:264480
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Lethargy, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Proximal Spinal Muscular Atrophy
Difficulty walking, Inability to walk, Bradycardia ORPHA:70
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele, Microphthalmia OMIM:619148
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:251230
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Inguinal hernia, Microphthalmia ORPHA:250989
Focal Dermal Hypoplasia
Hypoplasia of the iris, Umbilical hernia, Inguinal hernia, Spina bifida, Omphalocele, Microphthalmia ORPHA:2092
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Galloway-Mowat Syndrome 1
Hiatus hernia, Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia OMIM:251300
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... ORPHA:353281
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
D-Glyceric Aciduria
Bradycardia OMIM:220120
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Ohdo Syndrome, X-Linked
Hiatus hernia, Inguinal hernia, Microphthalmia OMIM:300895
Trisomy 18
Intrauterine growth retardation, Spina bifida, Omphalocele, Microphthalmia, Anencephaly ORPHA:3380
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida, Microphthalmia ORPHA:99776
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Mosaic Trisomy 1
Omphalocele, Microphthalmia ORPHA:1692
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Microphthalmia ORPHA:2250
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Cohen Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia OMIM:603467
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Microphthalmia ORPHA:464738
Fryns Syndrome
Omphalocele, Microphthalmia ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Encephalocele, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2714
Dubowitz Syndrome
Hypoplasia of the iris, Intrauterine growth retardation, Inguinal hernia, Microphthalmia OMIM:223370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Omphalocele, Microphthalmia OMIM:616300
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia OMIM:236670
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Microphthalmia OMIM:601707
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia OMIM:619879
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Duane-Radial Ray Syndrome
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia OMIM:607323
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Omphalocele, Microphthalmia ORPHA:2162
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia ORPHA:90674
Pelvis-Shoulder Dysplasia
Hydranencephaly, Spina bifida, Bilateral microphthalmos ORPHA:2839
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Microphthalmia ORPHA:251014
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Omphalocele, Umbilical hernia ORPHA:2166
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos OMIM:601186
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:364577
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Postnatal growth reta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Postnatal growth reta... ORPHA:353277
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Microphthalmia OMIM:227645
Hallermann-Streiff Syndrome
Spina bifida, Microphthalmia OMIM:234100
Jacobsen Syndrome
Macular hypoplasia, Intrauterine growth retardation, Microphthalmia OMIM:147791
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Inguinal hernia, Omphalocele, Microphthalmia OMIM:263650
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:146510
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Anophthalmia, Microphthalmia ORPHA:2538
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Holoprosencephaly 7
Occipital meningocele, Omphalocele, Bilateral microphthalmos, Microphthalmia OMIM:610828
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia OMIM:614083
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Lethargy, Internal hemorrhage, Br... ORPHA:99826
Basal Cell Nevus Syndrome 1
Spina bifida, Microphthalmia OMIM:109400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Atelis Syndrome 2
Microphthalmia OMIM:620185
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Aicardi Syndrome
Hiatus hernia, Spina bifida, Microphthalmia OMIM:304050
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Anencephaly ORPHA:564
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Microphthalmia ORPHA:508498
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1052
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Microphthalmia ORPHA:861
Cockayne Syndrome B
Hypoplasia of the iris, Intrauterine growth retardation, Microphthalmia OMIM:133540
Aicardi Syndrome
Hiatus hernia, Microphthalmia ORPHA:50
Meckel Syndrome, Type 1
Occipital encephalocele, Intrauterine growth retardation, Large placenta, Omphalocele, Microphtha... OMIM:249000
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia OMIM:616975
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Microphthalmia OMIM:603457
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Microphthalmia ORPHA:3186
22Q11.2 Deletion Syndrome
Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, Spina bifida, Microphthalmia,... ORPHA:567
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Fanconi Anemia
Umbilical hernia, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Spina bifida, ... ORPHA:84
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Buphthalmos, Inguinal hernia, Umbilical hernia ORPHA:534
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Inguinal hernia, Umbilical hernia OMIM:613884
Bohring-Opitz Syndrome
Inability to walk, Bradycardia ORPHA:97297
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Inguinal hernia, Microphthalmia OMIM:609945
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia ORPHA:1587
Focal Dermal Hypoplasia
Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Inguinal hernia, Hiatus hernia, Ompha... OMIM:305600
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Myhre Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:139210
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Charge Syndrome
Umbilical hernia, Intrauterine growth retardation, Anophthalmia, Omphalocele, Microphthalmia ORPHA:138
Fryns Syndrome
Omphalocele, Microphthalmia OMIM:229850
Roberts Syndrome
Microphthalmia, Severe intrauterine growth retardation ORPHA:3103
Steinfeld Syndrome
Microphthalmia OMIM:184705
Fraser Syndrome 2
Microphthalmia OMIM:617666
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome