Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged lymph nodes Cecr2tm2b(EUCOMM)Hmgu HET Early adult 0.00
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
preweaning lethality, complete penetrance Cecr2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal craniofacial morphology Cecr2tm2b(EUCOMM)Hmgu HOM E15.5 0.00
increased circulating alkaline phosphatase level Cecr2tm2b(EUCOMM)Hmgu HET   Early adult 8.36×10-05
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal neural tube closure 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 HOM E12.5 0.00
decreased exploration in new environment Cecr2tm2b(EUCOMM)Hmgu HET Early adult 6.62×10-07
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
abnormal midbrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal hindbrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM 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.

Immunophenotyping

Panel B FCS file(s)

6 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

MicroCT E14.5-E15.5

Embryo reconstruction

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