Gene Summary

Name:
cyclin-dependent kinase 13
Synonyms:
2310015O17Rik,  Cdc2l5

IMPC Data Collections

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
abnormal lens morphology Cdk13tm1b(EUCOMM)Hmgu HET Early adult 1.55×10-07
cataract Cdk13tm1b(EUCOMM)Hmgu HET Early adult 4.33×10-07
preweaning lethality, complete penetrance Cdk13tm1b(EUCOMM)Hmgu HOM   Early adult 3.18×10-06
shortened QRS complex duration Cdk13tm1b(EUCOMM)Hmgu HET Early adult 9.61×10-05
increased startle reflex Cdk13tm1b(EUCOMM)Hmgu HET Early adult 4.18×10-12

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 50% (1 of 2)
Bone  Section images heterozygote 0.0% (0 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 0.0% (0 of 2)
Cerebral cortex  Section images heterozygote 0.0% (0 of 2)
Chest bone  Section images heterozygote 0.0% (0 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gall bladder  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hindlimb  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 0.0% (0 of 2)
Hypothalamus  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote 0.0% (0 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lower urinary tract  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 0.0% (0 of 2)
Oral epithelium  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 0.0% (0 of 2)
Prostate gland  Section images heterozygote Not available
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Striatum  Section images heterozygote 0.0% (0 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote Not available
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
cranium
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
placenta 16.67% (7 of 42)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

Associated Images

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

Adult LacZ

LacZ Images Section

113 Images

Electrocardiogram (ECG)

Waveform Image

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Cdk13 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.

The table below shows human diseases associated to Cdk13 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Short philtrum, Wide nasal bridge, Atrial septal defect, Narrow mouth,... OMIM:617360

The table below shows human diseases predicted to be associated to Cdk13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spastic Paraparesis And Deafness
Tremor, Cataract OMIM:312910
Trichomegaly
Cataract OMIM:190330
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Hepatomegaly, Pericardial effusion, Ascites, Atri... OMIM:115197
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Galactosemia Iv
Cataract OMIM:618881
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Optic Atrophy 3, Autosomal Dominant
Tremor, Cataract OMIM:165300
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Depressed nasal bridge, Wide mouth, Pericardial effusion, Long philtrum, Ascites, E... OMIM:608776
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Choanal Atresia And Lymphedema
Choanal atresia, High palate, Pericardial effusion, Lymphedema OMIM:613611
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
X-Linked Retinoschisis
Cataract ORPHA:792
Nephrosialidosis
Pericardial effusion, Ascites, Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Pericardial effusion, Long philtrum, Wide nasal bridge, Perianal abscess, Micropenis,... OMIM:614684
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy, Cataract OMIM:225740
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Galactosemia Ii
Cataract OMIM:230200
Cantu Syndrome
Thick lower lip vermilion, Bicuspid aortic valve, Depressed nasal bridge, Pericardial effusion, L... OMIM:239850
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Primary Effusion Lymphoma
Abnormality of the peritoneum, Pericardial effusion, Pleural effusion ORPHA:48686
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Growth delay, Ascites, Pulmonary arterial hypertension, Tricuspid... ORPHA:2414
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Short stature, Gastrointestinal hemorrhage, Aortic valve... ORPHA:363705
Hydrops Fetalis
Lymphedema, Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, ... ORPHA:1041
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Rectal prolapse, Oligodontia, Joint contracture of the hand, Delayed eruption of... OMIM:235510
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Alkuraya-Kucinskas Syndrome
High palate, Depressed nasal bridge, Pericardial effusion, Webbed neck, Edema, Short nose, Arthro... OMIM:617822
Cataract 47
Microcornea, Cataract OMIM:612018
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Gaucher Disease Type 1
Hepatomegaly, Gingival bleeding, Pericardial effusion, Ascites, Growth delay, Biliary tract obstr... ORPHA:77259
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Short neck, ... OMIM:300696
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract ORPHA:401830
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Situs inversus totalis, Abnormal heart morpho... ORPHA:244
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Absent outer dynein arm... OMIM:616037
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Prolonged QT interval, Pericardi... ORPHA:26793
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Cleft palate, Hip contracture, High palate, Short stature, Thin ver... OMIM:619110
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Alg9-Cdg
Smooth philtrum, Hypoplastic nipples, Torticollis, Short nose, Abnormal left ventricular outflow ... ORPHA:79328
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Intrauterine growth retardation, Growth delay, Short stature, T... ORPHA:2872
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the rectum, Stomach cancer, Esophageal neoplasm, Abnormality of the ... ORPHA:2869
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Cleft palate, Underdeveloped nasal alae, Short philt... OMIM:608572
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right... ORPHA:555874
Pallister-Hall-Like Syndrome
Cleft palate, Depressed nasal bridge, Abnormal heart morphology, Microglossia, Short nose, Microp... OMIM:241800
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... OMIM:619487
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Nasal polyp... ORPHA:183
Mosaic Trisomy 9
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Intrauterine growth re... ORPHA:99776
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hypospadias, Hepatomegaly, Intrauterine growth retardation, Wide mou... ORPHA:1194
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Angioedema, Hematuria, Splenomegaly, Abnormal heart ... ORPHA:36412
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Temple Syndrome
High palate, Cleft palate, Short philtrum, Depressed nasal bridge, Short stature, Intrauterine gr... OMIM:616222
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal heart morphology, Ectopic kidney, Facial cleft OMIM:239800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia 2
Aniridia, Cataract OMIM:617141
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Cataract, Pulmonary embolism... ORPHA:1345
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract OMIM:278780
Polyvalvular Heart Disease Syndrome
Prominent nose, High palate, Mitral valve prolapse, Short philtrum, Dental crowding, Short statur... ORPHA:228410
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Nasal polyp... ORPHA:1993
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nonimmune hydrops fetalis, Depressed nasal bridge, Pericardial effusion, Nephrotic ... OMIM:212065
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Proximal Myotonic Myopathy
Cataract ORPHA:606
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Limb tremor, Cataract OMIM:616647
Cataract 11, Multiple Types
Cataract OMIM:610623
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Intrauterine growth retardation, Lacticaciduria, Elevated urinary 4-hy... OMIM:619003
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypertension, Pericardial effusion, Bronchiectasis, In... ORPHA:79126
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Bronchiectasis, Rhinitis, Situs inversus totalis, Absent inner and outer dyne... OMIM:614935
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Hepatomegaly, Pericardial effusion, Malabsorption, Splenomegaly, Abnorma... ORPHA:92
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Bronchiectasis, Rhinitis, Situs inversus totalis, Absent inner and outer dyne... OMIM:615444
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Bronchiectasis, Situs inversus totalis, Absent inner and outer dynein arms, Recurre... OMIM:606763
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Recurrent respiratory infections, Nasal... OMIM:617092
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respir... OMIM:613808
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula, Nasal polyposis OMIM:155145
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Fryns Microphthalmia Syndrome
Facial cleft, Neural tube defect OMIM:600776
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Tongue nodules, Abnormality of the gingiva, Microglossia,... ORPHA:530
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Hepatitis, Cardiomyopathy, Polyhydramnios, Chol... ORPHA:292
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Facial cleft OMIM:601357
Tonne-Kalscheuer Syndrome
Hypospadias, Prominent nose, Growth delay, Short stature, Abnormal heart morphology, Congenital d... OMIM:300978
Triopia
Polyhydramnios, Midline facial cleft ORPHA:3374
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Left ventricular hypertrophy, Abnormal renal corti... OMIM:616733
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Short Rib-Polydactyly Syndrome
Hypospadias, Intrauterine growth retardation, Hepatic fibrosis, Facial cleft, Abnormal heart morp... ORPHA:1505
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Hennekam Syndrome
Pyloric stenosis, Delayed eruption of teeth, Splenomegaly, Camptodactyly of finger, Ectopic kidne... ORPHA:2136
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Atrial sep... OMIM:617300
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Nephrotic syndrome, Myositis, Ascites, Hematuria, Nephritis, Edema, Raynaud... ORPHA:93552
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Pneumonia, Endocarditis, Hematuria... ORPHA:781
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Intrauterine growth retarda... OMIM:612938
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Flexion contracture, Scapuloperoneal myopathy, Scapular wingin... OMIM:300695
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Cleft palate, Pierre-Robin sequence, Short stature, Increased hepatic gly... OMIM:614921
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Intrauterine growth retardation, Arrhythmia, Cardiomyopathy OMIM:616198
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Depressed nasal bridge, Short stature, Long philtrum, Cleft soft palate, Umbilic... OMIM:616331
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Pulmonary ... OMIM:615415
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Cleft palate, Hydronephrosis... OMIM:616897
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Mitral valve calcification, Growth delay, Hematuria, Pulmonar... ORPHA:77261
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Drug-Induced Lupus Erythematosus
Hematuria, Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Retinitis Pigmentosa 84
Cataract OMIM:618220
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Pericardial effusion, Pulmonary capillary hemangiomatosis, Interlobula... ORPHA:199241
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Subconjunctival hemorrhage, Epistaxi... ORPHA:464329
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Decreased liver functio... OMIM:617021
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas, Multicystic kidney dysplasia... ORPHA:3032
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Frontonasal Dysplasia 3
Facial cleft, Wide nasal bridge OMIM:613456
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Aymé-Gripp Syndrome
Cleft palate, Pericarditis, Pericardial effusion, Oligodontia, Long philtrum, Depressed nasal bri... ORPHA:1272
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Stomatitis, Splenomegaly, Pleural effusion OMIM:613011
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Neonatal death, Renal cyst, Arthrogryposis multiplex congenita... OMIM:236500
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Growth delay, Congenital diaph... ORPHA:139466
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Cleft palate, Intrauterine growth retardation, Cleft upper lip, Edema, Pol... OMIM:312150
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Restrictive cardiomyopathy, Endocardial fibroela... OMIM:619313
Oculomaxillofacial Dysostosis
Facial cleft, Wide nasal bridge, Short stature ORPHA:1794
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Recurrent bronchitis, Bronchiectasis, Si... OMIM:244400
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... ORPHA:263297
Acrofacial Dysostosis, Catania Type
Hypospadias, Intrauterine growth retardation, Facial cleft, Short stature, Short nose, Spina bifi... ORPHA:1786
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Pleural effusion, Pericardial effusion, Bronchiectasis ORPHA:411703
Emanuel Syndrome
Cleft palate, Truncus arteriosus, Delayed eruption of teeth, Low hanging columella, Micropenis, H... ORPHA:96170
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Double Outlet Right Ventricle
Pulmonary artery atresia, Ventricular septal defect, Cleft palate, Truncus arteriosus, Depressed ... ORPHA:3426
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Abnormal EKG, Aortic valve stenosis, Abnormal left ventricular fu... ORPHA:2041
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Malabsorption, Congestive heart failure, Proteinuria, ... ORPHA:225
Cataract 43
Subcapsular cataract OMIM:616279
Marden-Walker Syndrome
Dextrocardia, Decreased muscle mass, Pyloric stenosis, Cleft palate, High palate, High, narrow pa... OMIM:248700
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Renal Tubular Dysgenesis
Proximal tubulopathy, Polyhydramnios, Oligohydramnios, Tetralogy of Fallot, Multiple renal cysts,... ORPHA:3033
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Diffuse al... ORPHA:99827
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, Hepatomegaly, High palate, Microdontia, Wide mouth, Hepatic fibrosis, Macrog... OMIM:266920
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Growth delay, Edema, Intestinal lymphangiectasia, Abnormality of s... ORPHA:90362
Supernumerary Nostril
Facial cleft ORPHA:141096
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Smooth philtrum, Convex nasal ridge, Abnormal lung lobation, Abnormal ... OMIM:263210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Cleft palate, Short stature, Mitral stenosis, Bifid uvula, Hypoplastic left hea... OMIM:617660
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Diamond-Blackfan Anemia 6
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Growth delay, Mitral regurgitatio... OMIM:612561
Alg3-Cdg
High palate, Neural tube defect, Macroglossia, Arthrogryposis multiplex congenita, Cardiomyopathy... ORPHA:79321
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid va... OMIM:612863
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Pellagra-Like Syndrome
Cataract OMIM:260650
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Multiple Pterygium Syndrome, Lethal Type
Depressed nasal ridge, Cleft palate, Intrauterine growth retardation, Edema, Polyhydramnios, Hypo... OMIM:253290
Cystic Fibrosis
Cor pulmonale, Hepatomegaly, Rectal prolapse, Bronchiectasis, Dehydration, Recurrent bronchopulmo... OMIM:219700
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft palate, Cleft upper lip, Bifid uvula, Wide nasal bridge, Dysplastic pulmonary valve, Bulbou... OMIM:300958
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Broad nasal tip, Congenital diaphragmatic her... OMIM:615524
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Cryptorchidism, Polyur... OMIM:618183
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Bronchiectasis, Rhinitis, Respiratory tract infection, Recurrent respirator... OMIM:608647
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Short stature, Subvalvular aortic stenosis, Anteverted nares, Short neck, Biliary tr... ORPHA:3191
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtrum, Torticoll... OMIM:617022
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Renal tubular dysfunction, Ventricular arrhyth... ORPHA:37553
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Smooth philtrum, Depressed nasal bridge, Double outlet ri... OMIM:618316
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Hepatomegaly, Atrial fibrillation,... ORPHA:75249
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Al Amyloidosis
Abnormal cardiac atrium morphology, Gastrointestinal hemorrhage, Abnormal EKG, Monoclonal light c... ORPHA:85443
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Nephrocalcinosis, Abnormal r... ORPHA:73224
Acrofacial Dysostosis, Weyers Type
Mild short stature, Facial cleft ORPHA:952
Frontofacionasal Dysplasia
Short nose, Facial cleft, Short stature ORPHA:1791
Myhre Syndrome
Hypertension, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Skeletal ... OMIM:139210
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Nasal polyposis, Precocious puberty with Sertoli cell... OMIM:175200
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Cleft palate, Anencephaly, Congenital diaphragmatic herni... ORPHA:1335
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature, Camptodactyly OMIM:618453
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodont... OMIM:619184
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Meckel diverticulum, Palpitations, Abnormal heart morphology, Congenital d... ORPHA:2847
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Broad nasal tip, Gingival overgrowth, Bifid uvula, Wide n... OMIM:618658
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Mitral valve prolapse, Pericardial effusion, Premature loss of teeth, Webbed neck, T... ORPHA:536532
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Hepatomegaly, Esophageal varix, Pulmonary hypoplasia, Pancreatic cysts, Dehydration... OMIM:263200
Congenital Varicella Syndrome
Cataract ORPHA:291
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Growth delay, Skeletal myopathy, Endocardial... OMIM:302060
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Cleft palate, Depressed nasal bridge, Broad nasal tip, Short stature, ... ORPHA:250999
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Cataract OMIM:617228
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, High palate, Minicore myopathy, Skeletal muscle ... OMIM:255320
Intellectual Developmental Disorder, X-Linked 90
Enuresis, High palate, Bifid uvula OMIM:300850
Cerebrooculonasal Syndrome
Hypoplasia of penis, Facial cleft ORPHA:66625
19P13.12 Microdeletion Syndrome
Hypospadias, Ventricular septal defect, Cleft palate, Hypodontia, Intrauterine growth retardation... ORPHA:254346
Immunodeficiency 13
Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract ... OMIM:615518
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Pericardia... OMIM:181000
Anencephaly 2
Anencephaly, Cleft of alveolar ridge of maxilla, Bifid nose, Median cleft palate, Median cleft lip OMIM:619452
Autosomal Recessive Centronuclear Myopathy
High palate, Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular win... ORPHA:169186
Naxos Disease
Paroxysmal ventricular tachycardia, Cleft upper lip, Cardiomyopathy, Congestive heart failure, Su... ORPHA:34217
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... ORPHA:422
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Carious teeth, Hypospadias, Smooth philtrum, Low hanging columella, Micropen... ORPHA:363444
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis, Congestive heart f... OMIM:602390
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Chromosome 18Q Deletion Syndrome
Hypospadias, Cleft palate, Short stature, Micropenis, Thin upper lip vermilion, Recurrent respira... OMIM:601808
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Cleft palate, Mitral valve prolapse, Oligodontia, Long philtrum, Peri... ORPHA:2712
Meckel Syndrome 12
Renal hypoplasia, Intrauterine growth retardation, Bifid uvula, Wide nasal bridge, Arthrogryposis... OMIM:616258
Retinitis Pigmentosa 4
Cataract OMIM:613731
Trichohepatoenteric Syndrome 1
Hypospadias, Short stature, Anteverted nares, Large placenta, Jaundice, Depressed nasal ridge, Ve... OMIM:222470
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Bifid uvula ORPHA:2669
Satb2-Associated Syndrome Due To A Pathogenic Variant
Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Growth delay, Drooling... ORPHA:576283
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Depressed nasal bridge, Wide mouth, Short stature, Webbed neck, Poly... OMIM:611553
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema OMIM:604571
Thymic Aplasia With Fetal Death
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Bulbous nose, Long-chain dicarboxylic aciduria, Elbow flexion contracture... OMIM:608836
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia ORPHA:99772
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Smooth philtrum, Cleft palate, Depressed nasal bridge, Long philtrum, ... ORPHA:404440
Sarcoidosis
Abnormal cardiac ventricular function, Tubulointerstitial nephritis, Parotitis, Enlargement of pa... ORPHA:797
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Chronic rhinitis, Nasal polyposis, Recurrent sinusitis OMIM:618695
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Congenital... OMIM:611812
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Hydrocephalus, Bifid uvula OMIM:258320
Hemochromatosis, Type 1
Testicular atrophy, Telangiectasia, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly... OMIM:235200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy, Organic aciduria ORPHA:35
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pulmonary hypoplasia, Pancreatic cysts, Hepatic fibrosis, Asplenia, Bile duct proli... OMIM:208540
Hardikar Syndrome
Cholangitis, Esophageal varix, Short stature, Intrahepatic bile duct cysts, Splenomegaly, Hepatos... OMIM:301068
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Short philtrum, Depressed nasal bridge, Short statur... ORPHA:96184
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Hypospadias, Short stature, Delayed eruption of teeth, Low hanging columella, C... OMIM:619148
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Ogden Syndrome
Short stature, Postnatal growth retardation, Thin upper lip vermilion, Pulmonary artery stenosis,... OMIM:300855
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Microphthalmia, Syndromic 9
Truncus arteriosus, Short stature, Single ventricle, Bilateral lung agenesis, Ventricular septal ... OMIM:601186
Congenital Hypothyroidism
Hypertension, Depressed nasal ridge, Thyroid dysgenesis, Goiter, Short stature, Macroglossia, Ora... ORPHA:442
Czeizel-Losonci Syndrome
Dextrocardia, Hydronephrosis, High palate, Hypoplastic nipples, Myelomeningocele, Congenital mega... ORPHA:2437
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Ankle flexion contracture, High palate, Hip contracture, Arthrogryposis mu... OMIM:617468
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Depressed nasal bridge, Short stature, Webbed neck, Joint contracture of... OMIM:612350
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Leber Congenital Amaurosis 16