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Gene: Cecr2 MGI:1923799

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Gene Summary

Name:
CECR2, histone acetyl-lysine reader
Synonyms:
Gtl4,  2810409N01Rik,  cat eye syndrome chromosome region, candidate 2,  2610101O16Rik

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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 craniofacial morphology Cecr2tm2b(EUCOMM)Hmgu HOM E15.5 0.00
enlarged lymph nodes Cecr2tm2b(EUCOMM)Hmgu HET Early adult 0.00
preweaning lethality, complete penetrance Cecr2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal neural tube closure Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
increased circulating alkaline phosphatase level Cecr2tm2b(EUCOMM)Hmgu HET   Early adult 9.32×10-05
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal hindbrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal midbrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal hindbrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal midbrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
decreased exploration in new environment Cecr2tm2b(EUCOMM)Hmgu HET Early adult 5.18×10-06
abnormal QT variability Cecr2tm2b(EUCOMM)Hmgu HET Early adult 1.31×10-05
abnormal neural tube closure Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 66.67% (2 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 66.67% (2 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 66.67% (2 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

6 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

6 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

View images
Eye Morphology

Images Ophthalmoscopy

5 Images

View images

Human diseases caused by Cecr2 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 Cecr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Parietal Foramina 3
Encephalocele OMIM:609566
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Isolated Dandy-Walker Malformation
Cleft palate, Encephalocele ORPHA:217
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
Parietal Foramina 1
Cleft palate, Encephalocele OMIM:168500
Parietal Foramina 2
Encephalocele OMIM:609597
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Holoprosencephaly, Bilateral cleft... OMIM:601357
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Unilateral Ocular Duplication
Midline facial cleft, Cleft palate, Encephalocele ORPHA:3374
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Muscular Dystrophy, Becker Type
Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia OMIM:300376
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Orofacial cleft, Occipital encephalocele ORPHA:324416
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Schisis Association
Anencephaly, Encephalocele, Spina bifida, Cleft palate, Unilateral cleft lip ORPHA:63862
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Elevated circulating creatine kinase concentration, Abnormal EKG OMIM:309930
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... OMIM:606685
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Cleft pa... ORPHA:1104
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Telecanthus, Conjunctival hyperemia, Absent lacrimal punctum, Sparse eyebr... OMIM:167730
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Incr... OMIM:601494
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI, Occipital encephalocele OMIM:617562
Hartsfield Syndrome
Lobar holoprosencephaly, Non-midline cleft of the upper lip, Cleft palate, Encephalocele ORPHA:2117
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Narrow palpebral fissure, Blepharophimosis, Telecanthus OMIM:300073
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate OMIM:600251
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... ORPHA:101016
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Treacher Collins Syndrome 4
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:618939
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft palate, Anencephaly OMIM:611561
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Oculocerebrocutaneous Syndrome
Orbital cyst, Orbital encephalocele, Eyelid coloboma OMIM:164180
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Cleft palate, Ethmoidal encephalocele OMIM:607597
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft palate, Encephalocele OMIM:613885
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Manitoba Oculotrichoanal Syndrome
Cryptophthalmos, Corneopalpebral synechiae, Eyelid coloboma, Nasolacrimal duct obstruction OMIM:248450
Meckel Syndrome, Type 2
Cleft palate, Anencephaly, Encephalocele, Meningocele OMIM:603194
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Enlarged Parietal Foramina
Occipital encephalocele, Cleft palate, Myelomeningocele ORPHA:60015
Joubert Syndrome 16
Encephalocele OMIM:614465
Barber-Say Syndrome
Ectropion, Sparse or absent eyelashes, Telecanthus, Ablepharon, Aplasia/Hypoplasia of the eyebrow ORPHA:1231
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate OMIM:611134
Craniotelencephalic Dysplasia
Frontal encephalocele OMIM:218670
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Ethmoidal encephalocele, Abnormal midbrain morpho... ORPHA:280195
Supernumerary Nostril
Tessier cleft ORPHA:141096
Frontofacionasal Dysplasia
Upper eyelid coloboma, Telecanthus, Encephalocele, Limbal dermoid, Ptosis, Aplasia/Hypoplasia of ... ORPHA:1791
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Cleft... ORPHA:1908
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Oculoauriculofrontonasal Syndrome
Cleft palate, Encephalocele ORPHA:398156
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:607361
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Treacher Collins Syndrome 3
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:248390
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Joubert Syndrome 15
Exencephaly OMIM:614464
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Nathalie Syndrome
Abnormal EKG OMIM:255990
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow OMIM:613456
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Pai Syndrome
Cleft palate, Encephalocele ORPHA:1993
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Median cleft palate OMIM:136760
Joubert Syndrome 18
Occipital encephalocele, Cleft palate OMIM:614815
Neu-Laxova Syndrome 2
Spina bifida, Ablepharon OMIM:616038
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Fraser Syndrome 3
Stillbirth, Cryptophthalmos, Hydrocephalus OMIM:617667
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Joubert Syndrome 9
Encephalocele OMIM:612285
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Cleft palate OMIM:241800
Richieri-Costa/Guion-Almeida Syndrome
Ptosis, Downslanted palpebral fissures, Spina bifida occulta, Eyelid coloboma OMIM:268850
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Bartsocas-Papas Syndrome 1
Ectropion, Axillary pterygium, Popliteal pterygium, Pterygium, Absent eyelashes, Ablepharon, Abse... OMIM:263650
Teebi Hypertelorism Syndrome 2
Ptosis, Thick eyebrow, Upper eyelid coloboma OMIM:619736
Distal Deletion 13Q
Holoprosencephaly, Anencephaly, Encephalocele ORPHA:1590
Bartsocas-Papas Syndrome
Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypoplasia of the eyebr... ORPHA:1234
Lissencephaly 8
Occipital encephalocele OMIM:617255
Meckel Syndrome, Type 10
Occipital encephalocele, Cleft palate, Anencephaly OMIM:614175
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Elevated circulating creatine kinase concentration, First degree atrioventricu... OMIM:310300
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Elevated pulmonary artery pressure... ORPHA:57777
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression, Confusion, ... ORPHA:36913
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Eyelid coloboma ORPHA:246
Anencephaly 2
Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:94090
Constricting Bands, Congenital
Tessier cleft, Cleft palate, Encephalocele OMIM:217100
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Pentalogy Of Cantrell
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Non-midline cleft of the upper lip, C... ORPHA:1335
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ... OMIM:618052
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration OMIM:619040
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Joubert Syndrome 7
Encephalocele OMIM:611560
Acrofrontofacionasal Dysostosis
Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Frontorhiny
Cranium bifidum occultum, Cleft palate, Basal encephalocele, Encephalocele ORPHA:391474
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus OMIM:619111
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Molar tooth sign on... OMIM:617622
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft palate OMIM:239800
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Burn-Mckeown Syndrome
Short palpebral fissure, Lower eyelid coloboma, Blepharophimosis OMIM:608572
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Telecanthus, Ptosis, Cranium bifidum occultum, Eyelid coloboma, Abse... OMIM:229400
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Oculomaxillofacial Dysostosis
Tessier cleft, Cleft palate ORPHA:1794
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Epicanthus, Long eyelashes OMIM:615877
Joubert Syndrome With Renal Defect
Hydrocephalus, Orofacial cleft, Cleft palate, Encephalocele ORPHA:220497
Acromelic Frontonasal Dysostosis
Midline facial cleft, Cleft palate, Submucous cleft soft palate, Encephalocele OMIM:603671
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... OMIM:610688
Ablepharon Macrostomia Syndrome
Absent eyelashes, Absent eyebrow, Ablepharon, Cryptophthalmos, Umbilical hernia ORPHA:920
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio... ORPHA:90065
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow... ORPHA:245
Joubert Syndrome 14
Hydrocephalus, Cleft palate, Encephalocele, Meningocele OMIM:614424
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Spina bifida ORPHA:2476
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Small placenta, Pterygium, Hydranencephaly, Absent eyelashes, A... OMIM:256520
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus ORPHA:1647
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele ORPHA:521308
Iniencephaly
Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holop... ORPHA:63259
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Acrofacial Dysostosis, Weyers Type
Tessier cleft ORPHA:952
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Cleft palate, Anencephaly OMIM:612284
Joubert Syndrome With Ocular Defect
Hydrocephalus, Orofacial cleft, Cleft palate, Encephalocele ORPHA:220493
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Cleft palate, Encephalocele OMIM:224400
Joubert Syndrome
Hydrocephalus, Orofacial cleft, Encephalocele ORPHA:475
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft palate, Meningocele ORPHA:1827
Acrofacial Dysostosis, Catania Type
Tessier cleft, Spina bifida occulta ORPHA:1786
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Telecanthus, Eyelid coloboma, Epicanthus, Limbal dermoid, Blepharophimos... ORPHA:3339
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Fraser Syndrome 1
Upper eyelid coloboma, Encephalocele, Hydrocephalus, Absent eyelashes, Myelomeningocele, Absent e... OMIM:219000
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly ORPHA:2211
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Ablepharon-Macrostomia Syndrome
Absent eyelashes, Absent eyebrow, Ablepharon, Cryptophthalmos, Hypoplasia of eyelid OMIM:200110
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele ORPHA:228390
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment ORPHA:1177
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Lower eyelid coloboma OMIM:616367
Cerebrooculonasal Syndrome
Tessier cleft ORPHA:66625
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Elevated circulating creatine kinase concentration OMIM:615351
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Epicanthus OMIM:157980
Coach Syndrome 1
Occipital encephalocele, Encephalocele OMIM:216360
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Upper eyelid coloboma, Pterygium, Hydrocephalus, Ablepharon, Long palpebral ... OMIM:616462
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele ORPHA:370959
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cleft palate, Encephalocele ORPHA:1865
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation... OMIM:615745
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concen... ORPHA:26793
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Encephalocele OMIM:613451
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Splenomegaly, Arrhythmia, Atrioventricular block, Dilated car... ORPHA:398124
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 8
Occipital encephalocele OMIM:612291
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Upper eyelid coloboma, Umbilical hernia ORPHA:2095
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Vacterl/Vater Association
Non-midline cleft of the upper lip, Occipital encephalocele, Cleft palate, Anencephaly ORPHA:887
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele OMIM:614195
Diamond-Blackfan Anemia 11
Eyelid coloboma OMIM:614900
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Pseudotrisomy 13 Syndrome
Hydrocephalus, Holoprosencephaly, Encephalocele, Median cleft palate OMIM:264480
Jacobsen Syndrome
Telecanthus, Hydrocephalus, Abnormal eyelash morphology, Ptosis, Holoprosencephaly, Eyelid colobo... OMIM:147791
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Decreased circulating carnitine concentration, Confusion, Abnormal circula... ORPHA:71212
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Dilated cardiomyop... OMIM:610198
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Limbal dermoid, Eyelid coloboma OMIM:613001
Momo Syndrome
Downslanted palpebral fissures, Eyelid coloboma, Epicanthus ORPHA:2563
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Mosaic Trisomy 9
Tessier cleft, Cleft palate, Spina bifida ORPHA:99776
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated circulati... ORPHA:231111
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly OMIM:207770
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele OMIM:224410
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:608629
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft palate, Encephalocele OMIM:613150
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression, Hypocalcemi... ORPHA:94089
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Encephalocele, Hydrocephalus, Cleft palate, Holoprosencephaly, Umbilical hernia ORPHA:2166
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Ptosis, Sparse eyebrow, Eyelid coloboma, Epicanthus, Cranium bifidum occultum ORPHA:306542
Fraser Syndrome
Encephalocele, Myelomeningocele, Death in infancy, Umbilical hernia, Cryptophthalmos, Lacrimal du... ORPHA:2052
Proboscis Lateralis
Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of the ocular adnexa, Abnormal... ORPHA:141099
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly OMIM:601374
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Elevated circulating... OMIM:300257
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele ORPHA:974
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypokalemia, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Hydrocephalus ORPHA:268249
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele OMIM:619148
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Slc35A2-Cdg
Dandy-Walker malformation, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abno... ORPHA:356961
Duplication Of The Pituitary Gland
Cleft palate, Encephalocele ORPHA:314621
Fish-Eye Disease
Angina pectoris, Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Orofacial cleft, Occipital encephalocele ORPHA:1454
Otopalatodigital Syndrome Type 2
Hydrocephalus, Cleft palate, Encephalocele, Myelomeningocele ORPHA:90652
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Jacobsen Syndrome
Ectropion, Death in infancy, Spina bifida, Ptosis, Downslanted palpebral fissures, Epicanthus, Ap... ORPHA:2308
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Postaxial Acrofacial Dysostosis
Ectropion, Downslanted palpebral fissures, Eyelid coloboma OMIM:263750
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Hydrocephalus OMIM:617542
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Elevated circulating creatine kinase concentration, Arr... OMIM:310200
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Treacher-Collins Syndrome
Tessier cleft, Cleft palate, Branchial fistula, Encephalocele ORPHA:861
Treacher Collins Syndrome 1
Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Lower eyelid coloboma, Sparse lowe... OMIM:154500
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomenin... ORPHA:2369
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Hydrocephalus, Abnormal brainstem morpho... ORPHA:163961
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevated circulati... OMIM:613327
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Median cleft palate, Holoprosencephaly, Spinal d... ORPHA:2162
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Tachycardia, Supraventricular arrhythmia, Hypertension, E... ORPHA:90068
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Dilated fourth ven... OMIM:619306
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2356
3Mc Syndrome 3
Tessier cleft, Cleft palate OMIM:248340
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Occipital encephalocele, Cleft palate, Meningoencephalocele OMIM:236670
Cerebrooculonasal Syndrome
Hydrocephalus, Cleft palate, Encephalocele OMIM:605627
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Hypertension, Epistaxis, Intracranial hemorrhage,... ORPHA:231625
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Short palpebral fissure, Ptosis, Downslanted palpebral fissures, Ectropion of l... OMIM:615873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Encephalocele OMIM:614643
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Encephalocele OMIM:616300
Atelosteogenesis, Type I
Cleft palate, Encephalocele OMIM:108720
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology ORPHA:300573
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Prolonged QT interval, Hypocalcemia, Atrial fibrillation,... ORPHA:31826
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Hypokalemia, Depression, Prominent U wave, Prolonged QTc interval, Syncope... OMIM:170390
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly OMIM:619879
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Prolonged QTc interval, Cardiac arrest, Elevated circulating creatine kinase concentration, Hyper... OMIM:616878
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperammonemia, Arrhyt... ORPHA:480864
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Confusion, Sinus tachycardia, Abnormal pulse p... ORPHA:466650
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Occipital meni... OMIM:616546
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Episodic hypokalemia, Ventricula... ORPHA:79102
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:467166
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Branchioskeletogenital Syndrome
Telecanthus, Highly arched eyebrow, Synophrys, Umbilical hernia, Downslanted palpebral fissures, ... ORPHA:1299
Treacher Collins Syndrome 2
Lower eyelid coloboma, Downslanted palpebral fissures OMIM:613717
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Lobar holoprosencephaly, Cleft palate ORPHA:564
Sweeney-Cox Syndrome
Upper eyelid coloboma OMIM:617746
Joubert Syndrome 5
Occipital encephalocele, Cleft palate OMIM:610188
Joubert Syndrome 21
Occipital encephalocele, Encephalocele OMIM:615636
Pagod Syndrome
Spina bifida, Encephalocele, Meningocele ORPHA:991
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft ORPHA:1236
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Increased serum pyruvate, Cognitive impairment ORPHA:94125
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morph... ORPHA:370997
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal midbrain morphology, Hypoplasia of the pons, Cere... ORPHA:444072
Holoprosencephaly 1
Tessier cleft, Ethmocephaly, Median cleft palate, Alobar holoprosencephaly OMIM:236100
Scalp-Ear-Nipple Syndrome
Palpebral edema, Telecanthus, Eyelid coloboma ORPHA:2036
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Isolated Arrhinia
Tessier cleft ORPHA:1134
Rett Syndrome
Prolonged QTc interval, Motor deterioration, Abnormal T-wave OMIM:312750
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Scalp-Ear-Nipple Syndrome
Palpebral edema, Telecanthus, Lower eyelid coloboma, Epicanthus, Narrow palpebral fissure, Blepha... OMIM:181270
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Eyelid coloboma ORPHA:140952
Oculoectodermal Syndrome
Limbal dermoid, Eyelid coloboma, Epicanthus OMIM:600268
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Downslanted palpebral fissures, Sparse lower eyelashes, Lower... OMIM:154400
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... ORPHA:70591
Gitelman Syndrome
Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin level, Hypomagnesemi... OMIM:263800
Alg3-Cdg
Hypoplasia of the pons, Dandy-Walker malformation, Neural tube defect ORPHA:79321
Knobloch Syndrome 2
Encephalocele OMIM:618458
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cel... ORPHA:98755
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Right axis deviati... OMIM:232300
Arima Syndrome
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Brainstem dysplasia, Dilated fourth ventri... OMIM:243910
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia OMIM:619476
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating inosine concentration, Lymph node hypoplasia, Splenomegaly, I... OMIM:613179
Cerebral Creatine Deficiency Syndrome 1
Attention deficit hyperactivity disorder, Prolonged QT interval, Elevated circulating creatine co... OMIM:300352
Al Amyloidosis
Gastrointestinal hemorrhage, Increased circulating NT-proBNP concentration, Hypertrophic cardiomy... ORPHA:85443
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology ORPHA:79139
Faundes-Banka Syndrome
Broad eyebrow, Hypoplasia of the lower eyelids, Long palpebral fissure, Downslanted palpebral fis... OMIM:619376
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression,... ORPHA:79444
Charge Syndrome
Aqueductal stenosis, Highly arched eyebrow, Umbilical hernia, Ptosis, Holoprosencephaly, Eyelid c... ORPHA:138
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Hydrocephalus, Cleft palate OMIM:249000
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal cerebellum morpho... ORPHA:68
Adams-Oliver Syndrome 1
Cleft palate, Encephalocele OMIM:100300
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Prolonged QT interval ORPHA:66634
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Occipital encephalocele, Anencephaly, Communicating hydrocephalus OMIM:615287
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta OMIM:267750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Elevated circulating creatine kinase concentration, Reduced left ventr... ORPHA:268
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morp... ORPHA:8
Gitelman Syndrome
Hypermagnesemia, Prolonged QT interval, Hypokalemia, Hypocalcemia, Prominent U wave, Low-to-norma... ORPHA:358
Aicardi-Goutières Syndrome
Ptosis, Eyelid coloboma ORPHA:51
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of eyelid OMIM:619321
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Depression,... ORPHA:79443
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Poland Syndrome
Spina bifida occulta, Encephalocele ORPHA:2911
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Orthostatic syncope, Increased blood urea nitrogen, Syncope, Elevated ci... ORPHA:230
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... ORPHA:860
Femoral-Facial Syndrome
Cleft palate, Encephalocele, Spina bifida OMIM:134780
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Attention deficit hyperactivity disorder, Prolonged QT interval, Pulmonary arterial hypertension OMIM:620029
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:2720
Dextrocardia
T-wave inversion, Abnormality of the spleen, Abnormal EKG ORPHA:1666
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cleft palate, Holoprosencephaly OMIM:615948
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Congenital Sialidosis Type 2
Hepatosplenomegaly, Abnormal EKG, Telangiectasia ORPHA:93400
Roberts-Sc Phocomelia Syndrome
Stillbirth, Hydrocephalus, Shallow orbits, Downslanted palpebral fissures, Eyelid coloboma, Front... OMIM:268300
Friedreich Ataxia
Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Vater/Vacterl Association
Occipital encephalocele, Patent urachus, Spina bifida OMIM:192350
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
17Q24.2 Microdeletion Syndrome
Emotional lability, Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Multiple Endocrine Neoplasia Type 1
Hematemesis, Melena, Depression, Confusion, Hypertension, Short attention span, Hypercalcemia, Sh... ORPHA:652
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Craniofacial Microsomia 1
Occipital encephalocele, Upper eyelid coloboma, Hydrocephalus, Branchial anomaly, Ptosis, Limbal ... OMIM:164210
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Polysplenia ORPHA:373
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Alternating Hemiplegia Of Childhood
Emotional lability, Cardiomyopathy, Cardiac conduction abnormality, Progressive neurologic deteri... ORPHA:2131
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:99880
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Dpagt1-Cdg
Emotional blunting, Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Parathyroid Carcinoma
Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:143
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Abnormal brainstem morphology, Cerebellar hypoplasia, Cerebellar atrophy OMIM:301310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft ORPHA:93271
African Trypanosomiasis
Myocarditis, Irritability, Congestive heart failure, Lymphadenopathy, Pericarditis, Hepatosplenom... ORPHA:3385
Noonan Syndrome
Abnormality of the lymphatic system, Hypertrophic cardiomyopathy, Abnormality of the spleen, Arrh... ORPHA:648
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:99228
Monosomy X
Prolonged QT interval, Depression, Hypertension, Attention deficit hyperactivity disorder, Myocar... ORPHA:99226
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI ORPHA:434179
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Wilson Disease
Face of the giant panda sign OMIM:277900
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Diffuse cerebellar atrophy ORPHA:93256
Woodhouse-Sakati Syndrome
Hyperlipidemia, Mental deterioration, Abnormal T-wave ORPHA:3464
Semilobar Holoprosencephaly
Abnormal brainstem morphology, Neural tube defect, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Abnormal brainstem morphology, Neural tube defect, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal brainstem morphology, Neural tube defect, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Abnormal brainstem morphology, Neural tube defect, Hydrocephalus ORPHA:93924
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology ORPHA:464311
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Woodhouse-Sakati Syndrome
Hyperlipidemia, Abnormal T-wave OMIM:241080
Schinzel-Giedion Syndrome
Neural tube defect, Chiari type I malformation, Umbilical hernia ORPHA:798

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 Cecr2

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 Cecr2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cecr2 mutant mice as a model for human cat eye syndrome. Scientific reports (February 2021) Cecr2tm2b(EUCOMM)Hmgu PMC7862319

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
Cecr2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cecr2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cecr2tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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