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
preweaning lethality, complete penetrance Cdk13tm1b(EUCOMM)Hmgu HOM   Early adult 3.18×10-06
increased startle reflex Cdk13tm1b(EUCOMM)Hmgu HET Early adult 4.18×10-12

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
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 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
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 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
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.

Electrocardiogram (ECG)

Waveform Image

36 Images

Adult LacZ

LacZ Images Section

113 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
Camptodactyly, Prominent nasal bridge, Atrial septal defect, Ventricular septal defect, Polyhydra... OMIM:617360

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Meckel Syndrome, Type 8
Encephalocele, Polycystic kidney dysplasia, Enlarged kidney, Short neck, Short nose, Occipital en... OMIM:613885
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... OMIM:115197
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Choanal Atresia And Lymphedema
Choanal atresia, High palate, Lymphedema, Pericardial effusion OMIM:613611
Nephrosialidosis
Renal insufficiency, Nephropathy, Nephrotic syndrome, Pericardial effusion, Ascites OMIM:256150
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Depressed nasal bridge, Edema, Short neck, Short... OMIM:608776
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Anasarca, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... OMIM:614702
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Micropenis, Upturned corners of mouth, Perianal abscess, Long philtrum, Pericardi... OMIM:614684
Primary Effusion Lymphoma
Pleural effusion, Abnormality of the peritoneum, Pericardial effusion ORPHA:48686
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... ORPHA:300751
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... ORPHA:2414
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... ORPHA:1041
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Cantu Syndrome
Depressed nasal bridge, Short neck, Umbilical hernia, Anteverted nares, Bicuspid aortic valve, Co... OMIM:239850
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Protein-losing en... OMIM:235510
Craniofaciofrontodigital Syndrome
Atrial septal defect, Ventricular septal defect, Prominent median palatal raphe, Persistent fetal... ORPHA:363705
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Nasal congestion, Atrial situs ambigu... ORPHA:244
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
High palate, Limb hypertonia, Atrial septal defect, Polyhydramnios, Urinary incontinence, Short s... OMIM:620070
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co... OMIM:181350
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Jaundice, Anteriorly placed anus, Tachy... ORPHA:26793
Microphthalmia, Syndromic 12
Broad nasal tip, Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Neonatal death,... OMIM:615524
Pai Syndrome
Encephalocele, Midline defect of the nose, Bifid uvula, Nasal polyposis, Cleft palate, Abnormal o... ORPHA:1993
Gaucher Disease Type 1
Delayed puberty, Pulmonary arterial hypertension, Proteinuria, Gingival bleeding, Biliary tract o... ORPHA:77259
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Alkuraya-Kucinskas Syndrome
Camptodactyly, High palate, Arthrogryposis multiplex congenita, Micropenis, Edema, Hydrocephalus,... OMIM:617822
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Ventricular septal defect... OMIM:616037
Alg9-Cdg
Enlarged kidney, Ventricular septal defect, Atrial septal defect, Bifid uvula, Rhizomelia, Hypopl... ORPHA:79328
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the nose, Esophageal neoplasm, Nasal polyposis, Abnormality o... ORPHA:2869
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... ORPHA:555874
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Lower limb hypertonia, Hepatosplenomegaly, Proteinuria, Micrope... OMIM:619487
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Proteinuria, Endocarditis, Tubuloin... ORPHA:183
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Hypocomplementemic Urticarial Vasculitis
Proteinuria, Small vessel vasculitis, Angioedema, Renal insufficiency, Abnormal heart valve morph... ORPHA:36412
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, Abnormal heart morphology, Facial cleft OMIM:239800
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Mosaic Trisomy 9
Hydronephrosis, Dextrocardia, Asplenia, Ventricular septal defect, Spina bifida, Atrial septal de... ORPHA:99776
Unilateral Ocular Duplication
Encephalocele, Polyhydramnios, Midline facial cleft ORPHA:3374
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
High palate, Alpha-aminoadipic aciduria, Cardiomyopathy, Skeletal muscle atrophy, Elevated urine ... OMIM:620089
Polyvalvular Heart Disease Syndrome
High palate, Pulmonic stenosis, Arrhythmia, Abnormal heart valve morphology, Short stature, Tricu... ORPHA:228410
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Nasal polyposis, Chronic ... OMIM:615444
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele, Facial cleft OMIM:601357
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Persistent feta... OMIM:618775
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypertens... ORPHA:79126
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Tetralogy of Fallot, Ventricular s... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Cardiomyopathy,... OMIM:619003
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Br... OMIM:614935
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Nasal polyposis, Chronic rhinitis, Abdominal situs ambiguus, Recurrent pn... OMIM:617092
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Ch... OMIM:608647
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Nasal polyposis, Bronchie... OMIM:606763
Heart-Hand Syndrome, Slovenian Type
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... ORPHA:168796
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorchidism, Arrhythmia, Intraut... ORPHA:1194
Juvenile Idiopathic Arthritis
Joint swelling, Malabsorption, Abnormal pleura morphology, Hepatomegaly, Psoriasiform dermatitis,... ORPHA:92
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Prominent nasal bridge, Pulmonary hypoplas... OMIM:300978
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Recurrent respiratory infections, Abnormal axonemal organization of respi... OMIM:613808
Myopathy, X-Linked, With Postural Muscle Atrophy
Short neck, Arrhythmia, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypertro... OMIM:300696
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Mitral regurgitation, Increased myocard... OMIM:620236
Congenital Enterovirus Infection
Myocarditis, Hypotension, Hydrops fetalis, Cholestasis, Polyhydramnios, Cardiomyopathy, Fetal asc... ORPHA:292
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Lipoid Proteinosis
Recurrent respiratory infections, High palate, Nasal polyposis, Abnormal oral mucosa morphology, ... ORPHA:530
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft OMIM:600776
Hennekam Syndrome
Camptodactyly of finger, Tooth agenesis, Horseshoe kidney, Malabsorption, Narrow mouth, Supernume... ORPHA:2136
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula, Nasal polyposis OMIM:155145
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Right bundle branch block, Mitral regurgitation, Left atr... ORPHA:75566
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Webbed neck, Micropenis, Ventricular septal defect, Short neck, Hydrops fetalis, ... OMIM:616897
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Proteinuria, Edema, Renal cyst, Steatorrhea, Cardiomyopathy, Villous a... OMIM:212065
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Pulmonary hypoplas... OMIM:616733
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Polycystic kidney dysplasia, Increased nuchal translucency, Edema, Abnorm... ORPHA:1505
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Recurr... OMIM:620197
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Q Fever
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Abnormality of the liver, Abnormal hea... ORPHA:781
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Atelectasis, Nasal polyposis, Communicating hydrocephalus, Asplenia, Chro... OMIM:244400
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neonatal death, Congestive hear... OMIM:614096
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Pulmonary hypoplasia, Abnormal biliary trac... ORPHA:3032
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Nonimmune hydrops fetalis, Hypoplastic spleen, Right atrial enlargement... OMIM:619313
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Proteinuria, Edema, Nephritis, Renal insufficiency, Nephrotic syndrome, Peric... ORPHA:93552
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Hematuria, Pericarditis, Pericardial effusion ORPHA:231111
Gaucher Disease Type 3
Recurrent respiratory infections, Pulmonary arterial hypertension, Proteinuria, Delayed puberty, ... ORPHA:77261
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, High palate, Dysplastic pulmonary valve, Anteriorly placed anus, Atri... OMIM:612863
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Intrauterine growth retardation, Congestive heart failure, Dilated cardiomyopathy, Hy... OMIM:616198
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... OMIM:611705
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Multiple re... ORPHA:464329
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Increased nuchal translucency, Intrauterine growth retardation, Ch... OMIM:620183
Double Outlet Right Ventricle
Pulmonary artery atresia, Depressed nasal bridge, Hypoplastic left heart, Pulmonic stenosis, Tetr... ORPHA:3426
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Bifid uvula, Tetralogy of Fallot, Accessory oral frenulum, Aganglion... ORPHA:2919
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Smooth philtrum, Patent for... OMIM:618316
Cirrhotic Cardiomyopathy
Reduced left ventricular ejection fraction, Hepatomegaly, Third heart sound, Left ventricular hyp... ORPHA:57777
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Bronchiectasis, Pericardial effusion, Pneumothorax ORPHA:411703
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Edema, Polyhydramnios, Pulmonary hypoplasia, Intrauterine growth retardati... OMIM:312150
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Asplenia, Cholestasis, Pulmonary hypo... OMIM:615415
Acrofacial Dysostosis, Catania Type
Short nose, Intrauterine growth retardation, Short stature, Spina bifida occulta, Hypospadias, Fa... ORPHA:1786
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Interlobular septal thickening,... ORPHA:199241
Oculomaxillofacial Dysostosis
Short stature, Wide nasal bridge, Facial cleft ORPHA:1794
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Primary Intestinal Lymphangiectasia
Edema, Peritoneal effusion, Pericardial effusion, Growth delay, Pleural effusion, Intestinal lymp... ORPHA:90362
Frontonasal Dysplasia 3
Wide nasal bridge, Facial cleft OMIM:613456
Aymé-Gripp Syndrome
Proteinuria, Camptodactyly, Oligodontia, Cryptorchidism, Depressed nasal bridge, Hydrocephalus, B... ORPHA:1272
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Renal Tubular Dysgenesis
Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Multiple renal cysts, Nephropathy, Pro... ORPHA:3033
Hardikar Syndrome
Atrial septal defect, Ventricular septal defect, Hydroureter, Unilateral cleft lip, Cholestasis, ... OMIM:301068
Lymphoproliferative Syndrome 1
Stomatitis, Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly OMIM:613011
Lethal Congenital Contracture Syndrome 11
Camptodactyly, Distal arthrogryposis, Polyhydramnios, Pulmonary hypoplasia, Intrauterine growth r... OMIM:617194
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Renal cyst, Hydranencephaly, Pulmonary hypoplasia, Neonatal death, Stillbirth, Anteve... OMIM:236500
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Growth delay, Abnormal penis ... ORPHA:139466
Maternally-Inherited Diabetes And Deafness
Proteinuria, Malabsorption, Arrhythmia, Renal insufficiency, Hypertension, Congestive heart failu... ORPHA:225
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Anteverted nares, Hypertrophic cardiomyopathy, Increased variabil... OMIM:617228
Burn-Mckeown Syndrome
Bilateral choanal atresia/stenosis, Prominent nasal bridge, Bifid uvula, Atrial septal defect, Hy... OMIM:608572
Marden-Walker Syndrome
Camptodactyly, Dextrocardia, High palate, Micropenis, Pyloric stenosis, Short neck, Decreased mus... OMIM:248700
1Q41Q42 Microdeletion Syndrome
Broad nasal tip, Cryptorchidism, Pulmonary hypoplasia, Submucous cleft hard palate, Holoprosencep... ORPHA:250999
Acromelic Frontonasal Dysostosis
Encephalocele, Wide nasal bridge, Midline facial cleft OMIM:603671
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... ORPHA:45453
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Edema, Limb hypertonia, Hypertension, Recurrent lower respiratory tract... OMIM:615846
Pentalogy Of Cantrell
Encephalocele, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Pulmonary hy... ORPHA:1335
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Shoulder girdle muscle ... ORPHA:263297
Cystic Fibrosis
Hepatosplenomegaly, Dehydration, Ileus, Nasal polyposis, Steatorrhea, Pancreatitis, Meconium ileu... OMIM:219700
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Cryptorchidism, Anasarca, Polyhydramnios, Protein-losing enteropathy, Elevated circ... OMIM:618183
Frontofacionasal Dysplasia
Encephalocele, Short nose, Short stature, Facial cleft ORPHA:1791
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Hepatomegaly, Acute pancreatitis, Bundle branch block, Bradycardi... ORPHA:99827
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft OMIM:600251
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Abnormality of the dentition, Broad nasal tip, Short nose, Short stature, Antevert... OMIM:618529
Wild Type Attr Amyloidosis
Abnormal EKG, Proteinuria, Arrhythmia, Renal insufficiency, Nephropathy, Hepatomegaly, Nephrotic ... ORPHA:330001
Oculofaciocardiodental Syndrome
Intestinal malrotation, Oligodontia, Tooth malposition, Abnormal palate morphology, Abnormality o... ORPHA:2712
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pulmonic stenosis, Arrhythmia, Short nose, Paroxysmal supraventricular tachycardia, ... OMIM:617877
Alg3-Cdg
Macroglossia, High palate, Pulmonary hypoplasia, Cardiomyopathy, Abnormality of the nose, Abnorma... ORPHA:79321
Al Amyloidosis
Reduced left ventricular ejection fraction, Monoclonal light chain cardiac amyloidosis, Albuminur... ORPHA:85443
Supernumerary Nostril
Facial cleft ORPHA:141096
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Multiple Pterygium Syndrome, Lethal Type
Depressed nasal ridge, Edema, Polyhydramnios, Pulmonary hypoplasia, Intrauterine growth retardati... OMIM:253290
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Bifid uvula, Atrial septal defect, Submucous cleft har... OMIM:617660
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Recurrent respiratory infections, Mitral regurgitation, Left atria... ORPHA:75249
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi... ORPHA:85451
Sick Sinus Syndrome 2
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Andersen-Tawil Syndrome
Prolonged QTc interval, Oligodontia, Renal tubular dysfunction, Abnormal T-wave, Torsade de point... ORPHA:37553
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Hand muscle weakness, Increased endomysial connective tissue, ... ORPHA:437572
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Broad nasal tip, Cryptorchidism, Ventricular septal defect, Supernumerary nipple, Pu... OMIM:612530
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Short neck, Polyhydramnios, Pulmonary hypoplasia, Underdeveloped nas... OMIM:263210
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Abnormal cardiac septum morphology, Bundle branch block ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, High palate, Minicore myopathy, Hydrops fetalis, Muscular dystr... OMIM:255320
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Aglossia, Polyhydramnios, Pulmonary hypopl... OMIM:202650
Anophthalmia Plus Syndrome
Spina bifida, Facial cleft ORPHA:1104
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Pallister-Hall-Like Syndrome
Micropenis, Hydrocephalus, Pulmonary hypoplasia, Occipital encephalocele, Short nose, Short statu... OMIM:241800
Acrofacial Dysostosis, Weyers Type
Mild short stature, Facial cleft ORPHA:952
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... OMIM:208540
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Pulmonary embolism, Hypertension, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hepatic calcification, Sudden cardiac... ORPHA:73224
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Left ventricular hypertr... OMIM:612098
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Camptodactyly, High palate, Distal arthrogryposis, Pulmonary hypoplasia, Knee flexion contracture... OMIM:617468
Peutz-Jeghers Syndrome
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Neoplasm ... OMIM:175200
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Atrial septal defect, Pulmonary hypoplasi... ORPHA:2847
Myhre Syndrome
Camptodactyly, Cryptorchidism, Prominent nasal bridge, Atrial septal defect, Ventricular septal d... OMIM:139210
Robinow Syndrome, Autosomal Dominant 2
Camptodactyly, Oligodontia, Abnormality of the dentition, Micropenis, Cryptorchidism, Umbilical h... OMIM:616331
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly, Short stature OMIM:618453
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, High palate, Arthrogryposis multiplex congenita, Spinal muscular a... OMIM:616866
Immunodeficiency 13
Nasal polyposis, Bronchiolitis obliterans organizing pneumonia, Recurrent pneumonia, Bronchiectas... OMIM:615518
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Facial cleft OMIM:607597
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Long nose, Oligodontia, Prominent nasal bridge, Atrial septal defect, Misalignment of incisors, A... OMIM:619184
Microphthalmia, Syndromic 9
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney, Multilobu... OMIM:601186
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Ventricular septal defect, Cleft lip, Pulmonary hypopla... OMIM:611812
Cerebrooculonasal Syndrome
Hypoplasia of penis, Facial cleft ORPHA:66625
Long Qt Syndrome 15
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis OMIM:604571
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Scapular winging, ... OMIM:612999
Sarcoidosis
Nephrocalcinosis, Hepatomegaly, Pneumothorax, Decreased liver function, Abnormal nasal mucosa mor... ORPHA:797
Lethal Congenital Contracture Syndrome 10
Macroglossia, Hypoplasia of the thymus, High palate, Torticollis, Ventricular septal defect, Shor... OMIM:617022
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Premature loss of teeth, Tooth malposition, Cryptorchidism, Umbilical hernia, Narrow... ORPHA:536532
19P13.12 Microdeletion Syndrome
Cryptorchidism, Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Arrhythmia... ORPHA:254346
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Inflammation of the large intestine, Abnormal salivary gland mor... OMIM:181000
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Syncope, Palpitations, Elevated jugular venous pressure, Hepatom... ORPHA:422
Short-Rib Thoracic Dysplasia 12
Atelectasis, Ventricular septal defect, Median cleft lip and palate, Hypoplastic nipples, Hepatom... OMIM:269860
Loeys-Dietz Syndrome 5
High palate, Mitral regurgitation, Prominent nasal bridge, Bifid uvula, Atrial septal defect, Ven... OMIM:615582
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... ORPHA:216694
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Arrhythmia, Cardiomyopathy, Hepatomegaly, Elevated ... OMIM:235200
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Congestive heart failure, Dilated cardiomyop... OMIM:602390
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Pulmonary hypoplasia, Knee flexion contracture, Absent uvul... OMIM:616531
Propionic Acidemia
Arrhythmia, Cardiomyopathy, Hepatomegaly, Organic aciduria ORPHA:35
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Choanal atresia, Camptodactyly, Cryptorchidism, Irregular dentition, P... OMIM:619148
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Chronic rhinitis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:618695
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... OMIM:540000
Lymphangioleiomyomatosis
Recurrent respiratory infections, Abnormal urinary color, Atelectasis, Renal angiomyolipoma, Hydr... ORPHA:538
Orofaciodigital Syndrome Xix
High palate, Bifid nasal tip, Underdeveloped nasal alae, Tongue nodules, Accessory oral frenulum,... OMIM:620107
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Esophageal atresia, Dextrocardia, Anal atresia, Enlarged kidney, Hydrocephalus, A... OMIM:314390
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Camptodactyly, Anal atresia, Abnormality of the dentition, Micropenis, Atrial septal d... ORPHA:363444
Czeizel-Losonci Syndrome
Hydronephrosis, High palate, Dextrocardia, Aplasia of the left hemidiaphragm, Hydrocephalus, Spin... ORPHA:2437
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Ventricular septal defect, Cleft palate, Microglossia, Smooth philtrum, Intrauterine... OMIM:608670
Fixed Subaortic Stenosis
Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Bacterial endocarditis, Ventricul... ORPHA:3092
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Bifid uvula, Ventricular septal defect, Chronic hepatitis, Hepatomegaly, Cleft p... OMIM:614921
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Short neck, Arrhythmia, Microdontia, Subvalvular aortic stenosis, Memb... ORPHA:3191
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis, Atrial septal defect OMIM:619239
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy ORPHA:104
Gitelman Syndrome
Delayed puberty, Decreased urinary potassium, Renal potassium wasting, Abnormal T-wave, Proteinur... ORPHA:358
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Pulmonary hypoplasia, Cleft palate, Thin vermilion border, Abnormal lung... ORPHA:2631
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Hydrocephalus, Heart block, Arrhythmia, Cho... ORPHA:398124
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Arrhythmia, Submucous cleft hard palate, Short stature, High, narrow pal... ORPHA:3201
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Paroxysmal atrial fibrillation, Reduced left ventricular ... ORPHA:1677
Congenital Hypothyroidism
Macroglossia, Goiter, Thyroid dysgenesis, Hypotension, Arrhythmia, Umbilical hernia, Hypertension... ORPHA:442
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Hepatic cysts, Pulmonary hypoplasia, ... OMIM:263200
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Recurrent respiratory infections, Dextrocardia, Ureteral stenosis,... ORPHA:2257
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Nephropathy, Atrioventricular block, Cardi... ORPHA:85447
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Depressed nasal tip, Abnormal preputium morphology, Thick nasal alae, Smooth philtrum, Glandular ... ORPHA:293725
Poems Syndrome
Pulmonary arterial hypertension, Edema, Increased circulating prolactin concentration, Pericardia... ORPHA:2905
Fryns Syndrome
Tetralogy of Fallot, Cleft palate, Multicystic kidney dysplasia, Hydronephrosis, Cryptorchidism, ... ORPHA:2059
Naxos Disease
Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula... ORPHA:34217
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Bulbous nose, Cleft so... OMIM:618779
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Short nose, Submucous cleft hard palate, Lobar holoprosencephaly, Short stat... OMIM:614701
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Dysplastic pulmonary valve, Ventricular septal defect, Horseshoe kidney, Unilater... OMIM:619103
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Hydrops fetalis, Arrhythmia, Supraventr... ORPHA:45452
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Cryptorchidism, Micropenis, Sh... ORPHA:2282
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Unilateral renal agenesis, Submucous cleft hard palate, Sho... OMIM:619227
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Cryptorchidism, Intestinal hypoplasia, Depressed nasal bridge, Polyhydra... ORPHA:994
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Noonan Syndrome 5
Depressed nasal bridge, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Short neck, Arrh... OMIM:611553
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, High palate, Agenesis of permanent teeth, Hydrops fetalis, Renal cys... OMIM:614091
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Atrioventricular canal defect, Abnormal mitral valve morphol... ORPHA:500
Diaphanospondylodysostosis
Increased nuchal translucency, Depressed nasal bridge, Enlarged kidney, Short neck, Horseshoe kid... OMIM:608022
Thanatophoric Dysplasia
Increased nuchal translucency, Hydrocephalus, Atrial septal defect, Polyhydramnios, Pulmonary hyp... ORPHA:2655
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Mitral regurgitation, Hypoplastic left heart, Bacterial endocar... ORPHA:1330
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Atrial septal defect, Smooth philtrum, Cleft soft palate, Facial hypotonia OMIM:614526
Constricting Bands, Congenital
Encephalocele, Bladder exstrophy, Ectopia cordis, Facial cleft OMIM:217100
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Submucous cleft hard palate, Premature ventricular contraction, Posteriorly placed tongu... OMIM:192445
Ogden Syndrome
Torticollis, Cryptorchidism, Postnatal growth retardation, Ventricular septal defect, Arrhythmia,... ORPHA:276432
3Mc Syndrome 3
Penoscrotal hypospadias, Micropenis, Horseshoe kidney, Short stature, Growth delay, Facial cleft OMIM:248340
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Antenatal intracerebral hemorrhage, Enlarged kidney, Hepatomegaly, N... OMIM:608836
Buratti-Harel Syndrome
High palate, Cryptorchidism, Bifid uvula, Atrial septal defect, Submucous cleft hard palate, Recu... OMIM:619314
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Nonimmune hydrops fetalis, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Anteverted nares OMIM:613124
Cardiac Diverticulum
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1686
Cerebrocostomandibular Syndrome
High palate, Anteriorly placed anus, Postnatal growth retardation, Atrial septal defect, Ventricu... OMIM:117650
Nephronophthisis 2
Situs inversus totalis, Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence ... OMIM:602088
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Recurrent respiratory infections, Jaundice, Gingival bleeding, Edema, Atrophy... ORPHA:167
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Severe short stature, Hydrops fetalis, Short neck, Hydrocephalus, ... ORPHA:1865
Polymyositis
Vasculitis, Arrhythmia, Abnormal mitral valve morphology, Hepatomegaly, Pulmonary fibrosis, Hyper... ORPHA:732
Meckel Syndrome, Type 6
Renal cyst, Horseshoe kidney, Hydrocephalus, Pulmonary hypoplasia, Occipital encephalocele, Bile ... OMIM:612284
Rheumatic Fever
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endocarditis, Arrhythmia, Abno... ORPHA:3099
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Nonimmune hydrops fetalis, Open mouth, Depressed nasal bridge, Polyhydramnios... OMIM:608013
Hydrolethalus
Cryptorchidism, Bifid uvula, Unilateral cleft lip, Hydrocephalus, Polyhydramnios, Submucous cleft... ORPHA:2189
Scimitar Syndrome
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Abn... ORPHA:185
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Polyhydramnios, Pulmonary hypoplasia, Skeletal muscle atrophy, Patent fo... OMIM:616867
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Ectopic kidney, Hydrops fetalis, Facial cleft ORPHA:268249
Ogden Syndrome
Secundum atrial septal defect, Polycystic kidney dysplasia, Enlarged kidney, Ventricular septal d... OMIM:300855
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdo... ORPHA:3309
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Arrhythm... OMIM:249270
Absence Of The Pulmonary Artery
Reduced left ventricular ejection fraction, Tetralogy of Fallot, Atrial septal defect, Abnormal h... ORPHA:980
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Elevated hepatic transaminase, Sudden cardiac ... ORPHA:156
Distal Triplication 15Q
Polycystic kidney dysplasia, Camptodactyly, Hydronephrosis, High palate, Atrial septal defect, Ho... ORPHA:314588
Myhre Syndrome
Cryptorchidism, Abnormal lip morphology, Severe short stature, Bifid uvula, Unilateral cleft lip,... ORPHA:2588
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventri... OMIM:608149
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis, Short neck, Hydrops fetalis, Atrial septal defect, Pulmo... OMIM:616546
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Pulmonary artery dilatation, Recurrent respiratory ... ORPHA:99106
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Webbed neck, Hydronephrosis, Pulmonic stenosis... OMIM:115150
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Rhizomelia, Knee flexion contracture, Cleft hard palate, Short stature ORPHA:166016
Mosaic Trisomy 1
Increased nuchal translucency, Pulmonary artery atresia, Camptodactyly of finger, Renal cortical ... ORPHA:1692
Amish Lethal Microcephaly
Spina bifida, Limb hypertonia, Hepatomegaly, Cleft soft palate, Organic aciduria ORPHA:99742
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia, Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricul... OMIM:619167
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy, Arrhythmia, Cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase... ORPHA:228305
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polycystic kidney dysplasia, Tubulointerstitial nephritis, Hydrocephalus, Heart block, Arrhythmia... ORPHA:228308
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Tetralogy of Fallot, Rhizomelia, Submucous cleft hard palate, Anteverted nares, Wide... OMIM:222765
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Short nose, Short stature,... OMIM:145420
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Velocardiofacial Syndrome
Pulmonary artery atresia, Open mouth, Cryptorchidism, Tetralogy of Fallot, Ventricular septal def... OMIM:192430
Oculocerebrocutaneous Syndrome
Facial cleft ORPHA:1647
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia, Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging OMIM:310095
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular... OMIM:300967
Dk1-Cdg
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Elevated hepatic transamina... ORPHA:91131
American Trypanosomiasis
Myocarditis, Edema, Arrhythmia, Cardiomyopathy, Periorbital edema, Hepatomegaly, Aganglionic mega... ORPHA:3386
Arthrogryposis, Distal, Type 3
Camptodactyly of toe, Camptodactyly of finger, High palate, Cryptorchidism, Distal arthrogryposis... OMIM:114300
Marden-Walker Syndrome
Situs inversus totalis, Camptodactyly of finger, Bifid uvula, Ventricular septal defect, Hydroure... ORPHA:2461
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Desmosterolosis
Depressed nasal bridge, Severe short stature, Bifid uvula, Hydrocephalus, Short nose, Submucous c... ORPHA:35107
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Bifid uvula, Short neck, Polyhydramnios, Cleft hard palate, Submucous cleft har... OMIM:300990
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Skeletal muscle atrophy, Thin skin, Gastrointestinal hemorrhage, Spina bifida occulta... ORPHA:230839
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Arrhythmia, Cardiomyopathy, Vaginal hydrocele, Endoc... ORPHA:2119
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Hydrocephalus, Short nose, Intrau... OMIM:619321
Wild Type Abeta2M Amyloidosis
Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Abnormal intestine ... ORPHA:85446
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Bifid uvula, Submucous cleft hard palate, Cleft palate, High, narrow palate... ORPHA:2780
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Recurrent respiratory infections, Hydronephrosis,... ORPHA:261494
Meckel Syndrome 14
Increased nuchal translucency, Polycystic kidney dysplasia, Mitral regurgitation, Short neck, Pul... OMIM:619879
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Hepatomegal... OMIM:212138
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Nasal polyposis OMIM:242670
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Goiter, Elevated circulating growth hormone concentration, Hypotension, Abnormal... ORPHA:91347
Cardiofaciocutaneous Syndrome
Hydronephrosis, High palate, Cryptorchidism, Depressed nasal bridge, Pulmonic stenosis, Atrial se... ORPHA:1340
Thoracoabdominal Syndrome
Hydrocephalus, Pulmonary hypoplasia, Cleft palate, Anencephaly, Transposition of the great arteri... OMIM:313850
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Contracture of the proximal interphalangeal joint of the 4th toe, Pyloric stenosis, ... ORPHA:457279
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Elevated hepa... ORPHA:42
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Fabry Disease
Delayed puberty, Proteinuria, Left ventricular hypertrophy, Arrhythmia, Renal insufficiency, Hype... OMIM:301500
Bartsocas-Papas Syndrome 1
Micropenis, Ectopic kidney, Short nose, Intrauterine growth retardation, Patent foramen ovale, Fa... OMIM:263650
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Arthrogryposis mul... ORPHA:2990
Oligomeganephronia
Secundum atrial septal defect, Proteinuria, Dehydration, Stage 5 chronic kidney disease, Decrease... ORPHA:2260
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Choanal atresia, Complete atrioventricular canal... OMIM:617063
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Renal insufficiency, Pancreatitis, Pulmonary edema, Oliguri... ORPHA:188
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydronephrosis, Anal atresia, High palate, Open mouth, Atrial septal defect, Polyhydramnios, Pulm... OMIM:614080
Combined Oxidative Phosphorylation Deficiency 33
Cardiac arrest, Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Intrauterine growth retar... OMIM:617713
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Polycystic kidney dysplasia, Arrhythmia, Cardiomyopathy, Skeletal muscle atrophy,... ORPHA:26791
Otopalatodigital Syndrome Type 2
Encephalocele, Hydronephrosis, Camptodactyly of finger, Oligodontia, Depressed nasal bridge, Anod... ORPHA:90652
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Elevated circulating a... OMIM:255120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Fibrofatty replacement of right ventricular myocardium, ... OMIM:609040
Holoprosencephaly
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the lungs, Tooth agenesis, Ventricular... ORPHA:2162
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Camptodactyly of finger, Short stature, Furrowed tongue ORPHA:2928
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, Arrhythmia, Umbilical hernia, Hypertension, Intrauterine growth retardation, Neon... OMIM:614052
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Broad nasal tip, Submucous cleft hard palate, Short stature, Protruding tongue, Dent... OMIM:618106
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Nephrocalcinosis, Edema, ... ORPHA:51608
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Atrial septal defect, Arrhythmia, Imperforate tricuspid valve, Atrial ... ORPHA:1880
Genitopatellar Syndrome
Hydronephrosis, Cryptorchidism, Prominent nasal bridge, Atrial septal defect, Pulmonary hypoplasi... ORPHA:85201
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Nonimmune hydrops fetalis, High palate, Cleft soft palate, De... ORPHA:124
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Short neck, Short nose, Short stature, Everted low... ORPHA:884
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Broad nasal tip, Ankyloglossia, Widely spaced teeth, Cleft palate, Unilateral renal hypoplasia, T... OMIM:619950
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Bifid uvula, Choanal atresia, Cleft palate, Growth delay, Rectovaginal f... ORPHA:2753
Tetrasomy 9P
Bifid uvula, Median cleft lip and palate, Horseshoe kidney, Abnormal mitral valve morphology, Mul... ORPHA:3310
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal pulmonary valve morphology, Broad nasal tip, Ventricular septal defect, Widely spaced te... ORPHA:268261
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Pulmonary hypoplasia, Intrauterine ... ORPHA:2470
Frontonasal Dysplasia 2
Encephalocele, Intrauterine growth retardation, Wide nasal bridge, Oligohydramnios, Tessier numbe... OMIM:613451
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency ORPHA:99772
Legionnaires Disease
Myocarditis, Proteinuria, Jaundice, Endocarditis, Hypotension, Arrhythmia, Abnormal pleura morpho... ORPHA:549
Microcephaly-Micromelia Syndrome
Short neck, Pulmonary hypoplasia, Aqueductal stenosis, Intrauterine growth retardation, Cleft pal... OMIM:251230
Neu-Laxova Syndrome
Abnormality of the philtrum, Arthrogryposis multiplex congenita, Depressed nasal ridge, Bifid uvu... ORPHA:2671
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Open mouth, Bifid uvula, Submucous cleft hard palate, Short stature, Supernumerary t... OMIM:617412
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Cardiomyopathy, Congestive heart failure, Anosmia, Cardiom... OMIM:266500
Raine Syndrome
Hydroureter, Choanal atresia, Cleft palate, Narrow mouth, Hydronephrosis, Short neck, Hydrocephal... OMIM:259775
Atelosteogenesis, Type Ii
Short neck, Pulmonary hypoplasia, Cleft palate, Stillbirth, Depressed nasal bridge OMIM:256050
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Cardiomyopathy, Hypertension, Renal insufficiency ORPHA:3222
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Hypoparathyroidism, Nephropathy, Short stature, Delayed eruption of teeth, ... ORPHA:2238
Mosaic Trisomy 16
Anteriorly placed anus, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Pulmon... ORPHA:1708
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Left bundle branch bloc... OMIM:618920
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular failure, Unroofed coron... ORPHA:99104
Mucopolysaccharidosis, Type Ix
Depressed nasal bridge, Submucous cleft hard palate, Short stature, Bifid uvula OMIM:601492
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, 3-Methylglutaconic aciduria, Neonatal death OMIM:615228
Fryns Syndrome
Atrial septal defect, Ventricular septal defect, Polysplenia, Cleft palate, Cleft upper lip, Join... OMIM:229850
Zttk Syndrome
Bifid uvula, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Narrow mouth, Int... OMIM:617140
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Cleft palate, Narrow mouth, Nonimmune hydrops fetalis, Depressed nasal t... OMIM:208150
Chromosome 2Q37 Deletion Syndrome
Broad nasal tip, Arrhythmia, Short stature, Subvalvular aortic stenosis, Wide nose, Anteverted na... OMIM:600430
Distal Deletion 15Q
Broad nasal tip, Hypoplastic left heart, Cleft palate, Bifid tongue, Multicystic kidney dysplasia... ORPHA:1596
Infantile Refsum Disease
Arrhythmia, Cardiomyopathy, Hepatomegaly, Short stature, Facial palsy ORPHA:772
Caudal Regression Syndrome
Anal atresia, Cryptorchidism, Arrhinencephaly, Decreased muscle mass, Abnormality of the ureter, ... ORPHA:3027
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Myopathy, Arrhythmia, Weakness of facial musculature, Nephrolithiasis, Dilated cardiomyopathy, Ge... ORPHA:352447
Oculodentodigital Dysplasia
High palate, Premature loss of teeth, Selective tooth agenesis, Neurogenic bladder, Atrial septal... OMIM:164200
Barth Syndrome
Arrhythmia, Skeletal myopathy, Tricuspid regurgitation, Growth delay, Congestive heart failure, D... OMIM:302060
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Cystic Fibrosis
Recurrent respiratory infections, Nasal polyposis, Malabsorption, Steatorrhea, Abnormality of the... ORPHA:586
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Muscular dystrophy, Generalized amyotrophy, Elbow flexion contracture, Joint contracture OMIM:616516
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Elevated circulating aspartate aminotransferase concentration, Myopathy, Hydrops ... OMIM:609015
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Flexion contracture ORPHA:157973
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Testicular atrophy, Joint swelling, Decreased muscle mass, Arrhythmia, ... ORPHA:465508
Congenital Myopathy 17
Hydronephrosis, High palate, Distal arthrogryposis, Myopathy, Polyhydramnios, Pulmonary hypoplasi... OMIM:618975
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Edema, Abnormal spleen morphology, Arrhythmia, Cardi... ORPHA:85448
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome