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
increased circulating alkaline phosphatase level Cecr2tm2b(EUCOMM)Hmgu HET   Early adult 5.90×10-05
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal neural tube closure Cecr2tm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal 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 hindbrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
hyperactivity Cecr2tm2b(EUCOMM)Hmgu HET   Early adult 1.14×10-05
enlarged lymph nodes Cecr2tm2b(EUCOMM)Hmgu HET Early adult 0.00
abnormal neural tube closure Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
preweaning lethality, complete penetrance Cecr2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal forebrain morphology Cecr2tm2b(EUCOMM)Hmgu HET E12.5 0.00
abnormal QT variability Cecr2tm2b(EUCOMM)Hmgu HET Early adult 1.31×10-05
abnormal craniofacial morphology Cecr2tm2b(EUCOMM)Hmgu HOM E15.5 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 1.92% (1 of 52)
brain 1.5% (6 of 400)
central nervous system ganglion 1.72% (1 of 58)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
gut 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 415)
placenta 15.15% (5 of 33)
skeleton 0.0%
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)
trachea 2.56% (1 of 39)
urinary system 0.0%

Associated Images

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

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

Eye Morphology

Images Ophthalmoscopy

5 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Pontocerebellar Hypoplasia, Type 12
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem, Cerebral hypoplasia OMIM:618266
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Dk Phocomelia Syndrome
Encephalocele OMIM:223340
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Parietal Foramina 3
Encephalocele OMIM:609566
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele ORPHA:1003
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele OMIM:213010
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Microcephaly, Hypoplasia of the brainstem, Cortical dysplasia, Polymicrogyria OMIM:615771
Cocaine Embryofetopathy
Encephalocele ORPHA:1911
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Parietal Foramina 2
Encephalocele OMIM:609597
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Meckel Syndrome, Type 11
Occipital encephalocele OMIM:615397
Parietal Foramina 1
Encephalocele OMIM:168500
Immunodeficiency 8
Hyperactivity OMIM:615401
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Isolated Dandy-Walker Malformation
Encephalocele ORPHA:217
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele OMIM:200130
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Facial cleft OMIM:601357
Triopia
Midline facial cleft, Encephalocele ORPHA:3374
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Fetal Akinesia Syndrome, X-Linked
Telecanthus, Narrow palpebral fissure, Blepharophimosis, Stillbirth, Arrhinencephaly OMIM:300073
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Lower eyelid coloboma, Telecanthus, Conjunctiv... OMIM:167730
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Hypokalemia, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Oculotrichoanal Syndrome
Upper eyelid coloboma, Cryptophthalmos, Nasolacrimal duct obstruction ORPHA:2717
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele OMIM:614416
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:324416
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele OMIM:218670
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Oculocerebrocutaneous Syndrome
Orbital cyst, Orbital encephalocele, Eyelid coloboma OMIM:164180
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Ablepharon-Macrostomia Syndrome
Absent eyelashes, Ablepharon, Cryptophthalmos, Absent eyebrow OMIM:200110
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Porencephalic cyst, Subcortical band ... OMIM:615191
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Barber-Say Syndrome
Ablepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Ectropion, Telecanthus ORPHA:1231
Schisis Association
Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Supernumerary Nostril
Facial cleft ORPHA:141096
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:166024
Joubert Syndrome 16
Encephalocele OMIM:614465
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Microcephaly, Dandy-Walker malformation, Age... OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Facial cleft OMIM:607597
Frontofacionasal Dysplasia
Encephalocele, Absent inner eyelashes, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Ptosi... ORPHA:1791
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly OMIM:614175
Anophthalmia Plus Syndrome
Blepharophimosis, Spina bifida, Eyelid coloboma ORPHA:1104
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Leber Congenital Amaurosis
Encephalocele ORPHA:65
Frontonasal Dysplasia 3
Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow OMIM:613456
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid, Encephalocele ORPHA:398156
Lissencephaly 8
Occipital encephalocele OMIM:617255
Hartsfield Syndrome
Lobar holoprosencephaly, Encephalocele ORPHA:2117
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Nathalie Syndrome
Abnormal EKG OMIM:255990
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Meckel Syndrome, Type 2
Anencephaly, Meningocele, Encephalocele OMIM:603194
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Meckel Syndrome, Type 8
Encephalocele OMIM:613885
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Distal Monosomy 13Q
Holoprosencephaly, Anencephaly, Encephalocele ORPHA:1590
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Hypoplasia of the brainstem, Brains... OMIM:611560
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Spina bifida occulta, Ptosis, Eyelid coloboma OMIM:268850
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Hydr... ORPHA:1532
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Joubert Syndrome 9
Encephalocele OMIM:612285
Pseudoprogeria Syndrome
Cranium bifidum occultum ORPHA:2985
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Temporal cortical atrophy, Hypoplasia of ... OMIM:615665
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Upslanted palpebral fissure, Pterygium, Popliteal pterygium, Absent ey... OMIM:263650
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Meningocele, Encephalocele ORPHA:1908
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Myofibrillar Myopathy 10
Increased QRS voltage, Increased circulating troponin I concentration, Elevated circulating creat... OMIM:619040
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology OMIM:617757
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Molar tooth sign on MRI, Superior cerebellar dyspl... OMIM:617622
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Bartsocas-Papas Syndrome
Popliteal pterygium, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, Sparse or absent eyelash... ORPHA:1234
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Reduced ejection fraction, Arrhythmia, Congestive ... ORPHA:85451
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:615287
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:93274
Fraser Syndrome 3
Cryptophthalmos OMIM:617667
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion of lower eyelids, Eyelid coloboma ORPHA:246
Burn-Mckeown Syndrome
Short palpebral fissure, Blepharophimosis, Lower eyelid coloboma OMIM:608572
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma ORPHA:1784
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele ORPHA:521308
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Neu-Laxova Syndrome 1
Short umbilical cord, Pterygium, Absent eyelashes, Ablepharon, Hydranencephaly, Spina bifida, Sma... OMIM:256520
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus OMIM:607361
Joubert Syndrome 14
Encephalocele, Hydrocephalus OMIM:614424
Slc35A2-Cdg
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal midb... ORPHA:356961
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Cerebellar cyst, Occipital encephalocele, ... ORPHA:370959
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Frontofacionasal Dysplasia
Absent inner eyelashes, S-shaped palpebral fissures, Cranium bifidum occultum, Blepharophimosis, ... OMIM:229400
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Pai Syndrome
Encephalocele ORPHA:1993
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Helsmoortel-Van Der Aa Syndrome
Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis, Eyelid coloboma OMIM:615873
Ablepharon Macrostomia Syndrome
Cryptophthalmos, Absent eyelashes, Ablepharon, Absent eyebrow, Umbilical hernia ORPHA:920
Acromelic Frontonasal Dysostosis
Encephalocele OMIM:603671
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Nager Syndrome
Aplasia/Hypoplasia of the eyebrow, Lower eyelid coloboma, Ptosis, Downslanted palpebral fissures,... ORPHA:245
Constricting Bands, Congenital
Encephalocele, Facial cleft OMIM:217100
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Sparse eyelashes, Sparse eyebrow OMIM:616367
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal cerebral cortex morphology, Abnormal brainstem morphology ORPHA:411493
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Abnormal substantia nigra morphology, Cerebral white matter atrophy, ... ORPHA:98756
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Fraser Syndrome 1
Myelomeningocele, Cryptophthalmos, Absent eyelashes, Absent eyebrow, Lacrimal duct aplasia, Malfo... OMIM:219000
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Abnormal conjunctiva morphology, Blepharophimosis, Eyelid coloboma, Limb... ORPHA:3339
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal brainstem morphology, I... ORPHA:370022
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ptosis, Eyelid coloboma ORPHA:1647
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Frontorhiny
Cranium bifidum occultum, Encephalocele, Basal encephalocele ORPHA:391474
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Abnormality of the medulla oblonga... ORPHA:206448
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Eyelid coloboma, Downslanted palpebral fissures, Exencephaly, Encephalocele ORPHA:2211
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Elevated circulating ... OMIM:310200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele ORPHA:228390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval OMIM:615351
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Joubert Syndrome 2
Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Molar tooth sign on ... OMIM:608091
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Frontonasal Dysplasia 2
Encephalocele OMIM:613451
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Facial cleft ORPHA:1786
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon OMIM:601374
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Dandy-Walker malformation, Agenesis of cerebellar vermis, Abnormal... ORPHA:163961
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Momo Syndrome
Epicanthus, Downslanted palpebral fissures, Eyelid coloboma OMIM:157980
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Coach Syndrome 1
Occipital encephalocele, Encephalocele OMIM:216360
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Prolonged QT interval, Atrioventricular block, ... ORPHA:398124
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Agyria, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morphology, Hypoplasia of t... ORPHA:370997
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Iniencephaly
Myelomeningocele, Anencephaly, Spinal dysraphism, Spina bifida, Hydrocephalus, Holoprosencephaly,... ORPHA:63259
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Dilated fourth ventricle... OMIM:619306
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:277170
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Hypoproteinemia, Ventricular tachycardia, Arrhy... ORPHA:26793
Jacobsen Syndrome
Abnormal eyelash morphology, Nasolacrimal duct obstruction, Ptosis, Eyelid coloboma, Hydrocephalu... OMIM:147791
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Limbal dermoid, Eyelid coloboma OMIM:613001
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Fraser Syndrome
Myelomeningocele, Cryptophthalmos, Lacrimal duct aplasia, Malformed lacrimal duct, Death in infan... ORPHA:2052
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Upper eyelid coloboma OMIM:603463
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus OMIM:612284
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:610688
Gorlin-Chaudhry-Moss Syndrome
Upper eyelid coloboma, Umbilical hernia, Abnormal eyelid morphology ORPHA:2095
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus ORPHA:220497
Momo Syndrome
Epicanthus, Downslanted palpebral fissures, Eyelid coloboma ORPHA:2563
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, ... ORPHA:36913
Joubert Syndrome 8
Occipital encephalocele OMIM:612291
Timothy Syndrome
Bradycardia, Hypocalcemia, Prolonged QT interval OMIM:601005
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:608629
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus ORPHA:1335
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Familial Hyperaldosteronism Type Iii
Hypokalemia, Prolonged QT interval, Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:251274
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Proboscis Lateralis
Orbital cyst, Unilateral narrow palpebral fissure, Holoprosencephaly, Nasolacrimal duct obstructi... ORPHA:141099
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Neural tube defect, Microcephaly, Da... ORPHA:79321
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Occipital en... ORPHA:397715
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Sparse eyebrow, Ptosis, Eyelid coloboma, Sparse eyelashes, Epicanthus ORPHA:306542
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus ORPHA:220493
Joubert Syndrome 39
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619562
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Encephalocele OMIM:619148
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, Hypercholesterolemia, ST segment depression, Ische... ORPHA:90065
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:619185
Mosaic Trisomy 9
Spina bifida, Facial cleft ORPHA:99776
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Elevated circulating creatine kinase concentration, Prolonged QT interval, Atrial f... OMIM:613327
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Encephalocele, Hydrocephalus OMIM:264480
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Increased C-peptide level, Hypertrophic cardiomyopathy, Mildly elevated c... ORPHA:71212
Jacobsen Syndrome
Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma, Downslanted palpebral fissures, Spina... ORPHA:2308
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormal pons morphology, Abnormality of the ba... ORPHA:68
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Ectropion, Eyelid coloboma OMIM:263750
Morm Syndrome
Hyperactivity ORPHA:75858
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, Micr... ORPHA:314621
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Joubert Syndrome 1
Occipital myelomeningocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Dysgenesis of ... OMIM:213300
Fish-Eye Disease
Angina pectoris, Splenomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration ORPHA:79292
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Treacher Collins Syndrome 1
Lacrimal duct stenosis, Ptosis, Sparse lower eyelashes, Downslanted palpebral fissures, Lower eye... OMIM:154500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Vacterl/Vater Association
Occipital encephalocele, Anencephaly ORPHA:887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Encephalocele, Hydrocephalus OMIM:253800
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Joubert Syndrome 38
Small pituitary gland, Molar tooth sign on MRI, Decreased response to growth hormone stimulation ... OMIM:619476
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Arachnoid Cyst
Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:2356
Arima Syndrome
Occipital meningocele, Dilated fourth ventricle, Molar tooth sign on MRI, Hypoplasia of the brain... OMIM:243910
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... ORPHA:75566
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia OMIM:616546
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypokalemia, Hypertension, Decreased circulating renin level, Palpitations, Intr... ORPHA:231625
Cerebellar-Facial-Dental Syndrome
Cerebellar hypoplasia, Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Micro... ORPHA:444072
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Mycophenolate Mofetil Embryopathy
Facial cleft, Hydrocephalus ORPHA:268249
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus OMIM:613150
Japanese Encephalitis
Cerebral edema, Abnormal pons morphology, Abnormal caudate nucleus morphology, Abnormal substanti... ORPHA:79139
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Facial cleft ORPHA:861
Sweeney-Cox Syndrome
Upper eyelid coloboma OMIM:617746
Acrofacial Dysostosis 1, Nager Type
Lower eyelid coloboma, Sparse lower eyelashes, Downslanted palpebral fissures, Hydrocephalus, Aqu... OMIM:154400
Otopalatodigital Syndrome Type 2
Myelomeningocele, Encephalocele, Hydrocephalus ORPHA:90652
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prom... OMIM:170390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus OMIM:614643
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Elevated c... OMIM:616878
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus OMIM:605627
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Elevated circulating acylcarnitine concentration, Abnormal EKG, Elevated circulating ... ORPHA:480864
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Branchioskeletogenital Syndrome
Blepharochalasis, Highly arched eyebrow, Eyelid coloboma, Downslanted palpebral fissures, Synophr... ORPHA:1299
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Ventricular fibrillation, Shortened P... ORPHA:79102
Holoprosencephaly
Spinal dysraphism, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Encephalocele ORPHA:2162
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Oculoectodermal Syndrome
Epicanthus, Limbal dermoid, Eyelid coloboma OMIM:600268
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele OMIM:616300
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Elevated circulatin... ORPHA:90068
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Brain ste... ORPHA:1136
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Abnormal brainstem morphology, Abnormal brainstem MR... ORPHA:88619
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal brainstem morphology, P... ORPHA:251937
3Mc Syndrome 3
Facial cleft OMIM:248340
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Spina bifida, Hydrocephalus, Spina bifida oc... ORPHA:2369
Al Amyloidosis
Increased circulating troponin I concentration, Increased circulating NT-proBNP concentration, Ga... ORPHA:85443
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Umbilical hernia, Encephalocele, Hydrocephalus ORPHA:2166
Scalp-Ear-Nipple Syndrome
Telecanthus, Palpebral edema, Eyelid coloboma ORPHA:2036
Gitelman Syndrome
Hypokalemia, Ventricular tachycardia, Increased circulating renin level, Hypotension, Prolonged Q... OMIM:263800
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ce... ORPHA:98755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Meningoencephalocele, Hydrocephalus OMIM:236670
Atelosteogenesis, Type I
Encephalocele OMIM:108720
Pagod Syndrome
Spina bifida, Meningocele, Encephalocele ORPHA:991
Short Rib-Polydactyly Syndrome
Facial cleft ORPHA:1505
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia OMIM:612716
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphol... ORPHA:2720
Joubert Syndrome 21
Occipital encephalocele OMIM:615636
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Increased circulating inosine concentration, Cerebral vasculitis, Hypouricemia, Lym... OMIM:613179
Meckel Syndrome
Lobar holoprosencephaly, Anencephaly, Encephalocele, Hydrocephalus ORPHA:564
Ethylene Glycol Poisoning
Congestive heart failure, Hyperkalemia, Hypocalcemia, Hypotension, Prolonged QT interval, Atrial ... ORPHA:31826
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
47,Xyy Syndrome
Cerebellar dysplasia, Abnormal brainstem morphology, Dysgenesis of the cerebellar vermis, Hydroce... ORPHA:8
Graves Disease, Susceptibility To, 1
Hyperactivity, Congestive heart failure OMIM:275000
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Attention deficit hyperactivity disorder OMIM:300352
Aicardi-Goutières Syndrome
Arrhinencephaly, Ptosis, Eyelid coloboma ORPHA:51
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hyperkalemia, Hypocalcemia, Hypotens... ORPHA:466650
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Elevated circulating creatine kinase concentration, Righ... ORPHA:268
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Hyperactivity OMIM:618314
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Telecanthus, Eyelid coloboma ORPHA:140952
Faundes-Banka Syndrome
Broad eyebrow, Downslanted palpebral fissures, Hypoplasia of the lower eyelids, Long palpebral fi... OMIM:619376
Joubert Syndrome 5
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Molar tooth sign on M... OMIM:610188
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Elevated circulating glutaric acid concentration ORPHA:66634
Charge Syndrome
Highly arched eyebrow, Ptosis, Eyelid coloboma, Epicanthus, Holoprosencephaly, Aqueductal stenosis ORPHA:138
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Hydrocephalus OMIM:249000
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Splenomegaly, Hypervalinemia, Elevated circulating creatine kinase... OMIM:615673
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Hypokalemia, Ventricular fibrillation, Hypocalcemia, Palp... ORPHA:358
Friedreich Ataxia
Abnormal echocardiogram, Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly, Facial cleft OMIM:236100
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Encephalomalacia ORPHA:231160
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... ORPHA:230
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Hypoplasia o... OMIM:619479
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Increased HDL chol... ORPHA:70591
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... ORPHA:860
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Hydrocephalus OMIM:619321
Knobloch Syndrome 1
Occipital meningocele, Spina bifida occulta, Occipital encephalocele OMIM:267750
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Splenomegaly OMIM:252920
Dextrocardia
T-wave inversion, Abnormal EKG, Abnormality of the spleen ORPHA:1666
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity, Splenomegaly OMIM:252900
Roberts-Sc Phocomelia Syndrome
Shallow orbits, Frontal encephalocele, Downslanted palpebral fissures, Eyelid coloboma, Hydroceph... OMIM:268300
Poland Syndrome
Spina bifida occulta, Encephalocele ORPHA:2911
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Hypothalamic hamartoma, Molar tooth sign on MRI, Cereb... ORPHA:2754
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Scorpion Envenomation
Increased circulating troponin I concentration, Hypokalemia, Increased circulating NT-proBNP conc... ORPHA:466677
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Pulmonic stenosis OMIM:619239
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Increased serum pyruvate ORPHA:94125
Adams-Oliver Syndrome 1
Encephalocele OMIM:100300
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Hyperactivity, Splenomegaly, Atrial fibrillation, Hy... ORPHA:525731
Congenital Sialidosis Type 2
Hepatosplenomegaly, Telangiectasia, Abnormal EKG ORPHA:93400
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Microcephaly, Simplified... OMIM:615948
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal brainstem morphology, Abnorm... ORPHA:70474
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Prolonged QT interval, Calcinosis, Hypocalcemic tetany, Hype... ORPHA:79444
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Hyperactivity, Splenomegaly OMIM:252930
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Prolonged QT interval, Hypertension, Hypocalcemic tetany, Ca... ORPHA:79443
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Molar tooth sign on MRI, Open operculum, Micro... ORPHA:434179
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal midbrain morphology, Increased circ... ORPHA:293987
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus OMIM:192350
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Shortened QT interval, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Shortened QT interval, Hypophosphatemia, Hypercalcemia ORPHA:143
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Splenomegaly, Prolonged QT interval, Cardiomyopathy, Polysplenia ORPHA:373
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Craniofacial Microsomia
Hydrocephalus, Occipital encephalocele, Blepharophimosis, Ptosis, Limbal dermoid, Branchial anoma... OMIM:164210
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Friedreich Ataxia And Congenital Glaucoma
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Con... OMIM:229310
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Cerebral cortical atrophy, Diffuse cerebellar atrophy ORPHA:93256
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type