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Gene: Ssr2 MGI:1913506

Gene Summary

Name:

signal sequence receptor, beta

Synonyms:

TRAPbeta

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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Viewing: all phenotypes

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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
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	100% (2 of 2)
Blood vessel	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	Ambiguous
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	50% (1 of 2)
Mammary gland	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	Ambiguous
Peyer's patch	N/A	heterozygote	Ambiguous
Pituitary gland	N/A	heterozygote	50% (1 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	100% (2 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Ssr2^{tm1b(EUCOMM)Wtsi}
HET, Female, WTSI

View all 91 images

Ssr2^{tm1b(EUCOMM)Wtsi}
HOM, Female, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
HOM, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
TS20 chorioallantoic placenta, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
TS20 hindbrain, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
TS20 dorsal root ganglion, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
TS20 spinal cord, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
abnormal snout morphology, head, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
asymmetric snout, head, abnormal snout morphology, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
head, abnormal snout morphology, asymmetric snout, HET, Male, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
abnormal retinal blood vessel pattern, HET, Female, WTSI

Ssr2^{tm1b(EUCOMM)Wtsi}
persistence of hyaloid vascular system, HET, Female, WTSI

Human diseases caused by Ssr2 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.

Human diseases associated with Ssr2 (0 diseases)
Human diseases predicted to be associated with Ssr2 (1001 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ssr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Verheij Syndrome	Retrognathia, Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular se...	OMIM:615583
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Emanuel Syndrome	Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular...	OMIM:609029
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Ventriculomegaly, Tetralogy of Fallot, Postnatal growth retardatio...	OMIM:179613
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, H...	OMIM:182410
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Emanuel Syndrome	Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular...	ORPHA:96170
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Micrognathia, Joint stiffness, Abnormal aortic morphology, Trunc...	ORPHA:2516
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic hemivertebrae, Micrognathia, Ventricular septal defect, Agenesis of corpus callosum, Bic...	ORPHA:508498
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ...	OMIM:220210
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Stankiewicz-Isidor Syndrome	Retrognathia, Micrognathia, Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Abnorm...	OMIM:617516
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Cholestasis, Ascites, Intrauterine growth retardation, Oligohydramnios,...	OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Limited elbow extension and supination, Cryptorchidism, Truncus arteri...	ORPHA:401935
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Lateral ventricle dilatation, Cryptorchidism, Myo...	OMIM:616816
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Retrognathia, Premature graying of hair, Moyamoya phenomenon, Decreased r...	ORPHA:280679
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Lateral ventricle dilatation, Umbilical hernia, Intrauterine growth retard...	OMIM:617751
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal peripheral nervous system morphology, Hip contracture, Gastrointestinal hemorrhage, Diff...	ORPHA:464321
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Ventriculomegaly, Retrognathia, Sparse medial eyebrow, Muscular ventricula...	OMIM:618804
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Ventriculomegaly, Skeletal muscle atrophy, Subdural hemorrhage, Later...	OMIM:618291
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Ca...	OMIM:620135
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Ventricular septal defect, Atrial septal defect, Short stature, Pat...	OMIM:618330
Microphthalmia, Syndromic 9	Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Neonata...	OMIM:601186
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Atri...	ORPHA:371428
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Micrognathia, Ventricular s...	ORPHA:1727
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery...	OMIM:300845
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Cryptorchidism, Ventricular septal defect, Agenesis of corpus callosum, Hepatomegaly, Butterfly v...	OMIM:301056
Snijders Blok-Campeau Syndrome	Ventriculomegaly, Umbilical hernia, Joint hypermobility, Taurodontia, Perimembranous ventricular ...	OMIM:618205
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Delayed skeletal maturation, Spondylolisthesis, Perimembranous ventricular septal def...	OMIM:617877
Chromosome 22Q11.2 Deletion Syndrome, Distal	Short stature, Highly arched eyebrow, Intrauterine growth retardation, Truncus arteriosus	OMIM:611867
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Ventriculomegaly, Carious teeth, Dental malocclusion, Retrognathia, High anterior hairline, Abnor...	ORPHA:363444
Halperin-Birk Syndrome	Optic atrophy, Ventriculomegaly, Umbilical hernia, Intrauterine growth retardation, Micrognathia,...	OMIM:618651
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Verte...	OMIM:618845
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Limb hypertonia, Pol...	OMIM:616920
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal cranial nerve morphology, Congenital muscular torti...	ORPHA:2345
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Sparse eyebrow, Carious teeth, Multiple muscular ventricular septal defects, Micrognathia, Polyhy...	OMIM:620070
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal def...	OMIM:265380
Dural Sinus Malformation	Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage...	ORPHA:97339
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Congenital hip dislocation, Contractures of the large joints, Lateral ventricle di...	ORPHA:3078
Pseudo-Torch Syndrome 2	Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Secundum atrial septal...	OMIM:617397
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi...	OMIM:610168
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ventricular septal defec...	OMIM:619995
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Macular degeneration, Medial calcification of large arteries, Angioi...	OMIM:177850
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Cryptorchid...	OMIM:620371
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Decreased nerve conduction velocity, Foot dorsiflex...	ORPHA:477817
Periventricular Nodular Heterotopia 1	Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:300049
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Ascites, Anemi...	OMIM:619487
Sotos Syndrome	Ventriculomegaly, Sparse eyebrow, High anterior hairline, Muscular ventricular septal defect, Gen...	OMIM:117550
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans...	ORPHA:66634
Slc35A2-Cdg	Osteopenia, Elevated circulating hepatic transaminase concentration, Lateral ventricle dilatation...	ORPHA:356961
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma	OMIM:107550
Alg12-Cdg	Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Micrognathia, Cryptorch...	ORPHA:79324
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Lateral ventricle dilatation, Umbilical hernia, Micrognathia, Joint contracture of ...	OMIM:618914
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Hydranencephaly, Ventricular septal defect	OMIM:601355
Cach Syndrome	Optic atrophy, Arthrogryposis multiplex congenita, Lateral ventricle dilatation, Intrauterine gro...	ORPHA:135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Ventriculomegaly, Skeletal muscle atrophy, Ky...	OMIM:606612
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Truncus arter...	OMIM:617478
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Hypoparathyroidism, Truncus arteriosus...	ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula...	OMIM:600001
Adams-Oliver Syndrome 6	Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,...	OMIM:616589
Arnold-Chiari Malformation Type I	Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ce...	ORPHA:268882
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Highly arched eyebrow, Tetralogy of Fallot, Congenital diaphragmatic her...	OMIM:300887
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Dilated fourth ventricle, Situs inversus totalis, Right ao...	OMIM:620642
Congenital Factor Xiii Deficiency	Gingival bleeding, Prolonged bleeding after dental extraction, Abnormal umbilical stump bleeding,...	ORPHA:331
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Secundum atrial septal defect, Ven...	OMIM:600987
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a...	ORPHA:2255
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial s...	ORPHA:980
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Leukocytosis, Abnormal cer...	ORPHA:90065
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Genitopalatocardiac Syndrome	Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the great arteries, ...	OMIM:231060
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Bicuspi...	OMIM:609192
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Limitation of joint mobility, S...	ORPHA:169805
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Intraute...	ORPHA:79243
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal...	ORPHA:567
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Peters Plus Syndrome	Postnatal growth retardation, Micrognathia, Cryptorchidism, Short neck, Iris coloboma, Patent duc...	ORPHA:709
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Joint stiffness, Micrognathia, Abnormal aortic morphology, Congenital diaphr...	ORPHA:1166
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defec...	OMIM:601808
Kyphoscoliotic Ehlers-Danlos Syndrome	Micrognathia, Myopathy, Bicuspid aortic valve, Dextrocardia, Hip dislocation, Osteopenia, Congeni...	ORPHA:536545
Cerebral Cavernous Malformations	Retinal vascular malformation, Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic ...	OMIM:116860
Hydranencephaly	Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Dilatation of the ventric...	ORPHA:2177
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Micrognathia, Thick eyebrow, Cryptorchidism, Macrocytic anemia	OMIM:620071
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Lateral ventricle dilatation, Tricuspid regurgitation, Intrauterin...	OMIM:612863
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Delayed cranial suture closure, Postnatal growth retardation, Micrognathia...	OMIM:180849
Acrocardiofacial Syndrome	Joint dislocation, Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation,...	ORPHA:2008
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septa...	OMIM:618164
Charge Syndrome	Chorioretinal coloboma, Postnatal growth retardation, Abnormal cranial nerve morphology, Cryptorc...	ORPHA:138
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Interrupted aortic arch, Ventriculomegaly, Alopecia, Capillary hemangioma,...	ORPHA:2396
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Highly arched eyebrow, Hypertrichosis, Tetralogy of Fallot, Cryptorchidis...	OMIM:618316
Mosaic Trisomy 1	Microretrognathia, Lateral ventricle dilatation, Camptodactyly of finger, Elbow flexion contractu...	ORPHA:1692
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Iris coloboma, Intrauterine growth retardation, Cryptorchidism, Joint hy...	ORPHA:250989
Joubert Syndrome 14	Optic atrophy, Highly arched eyebrow, Morning glory anomaly, Encephalocele, Intracranial hemorrha...	OMIM:614424
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Retrognathia, Skeletal muscle atrophy, Decreased liver function, C...	OMIM:608779
Congenital Hydrocephalus	Optic atrophy, Ventriculomegaly, Abnormal heart morphology, Macular hypoplasia, Colpocephaly, Hyd...	ORPHA:2185
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Cranial nerve compression, Congestive heart fa...	ORPHA:94080
Lateral Meningocele Syndrome	Coarse hair, Kyphosis, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Microgna...	OMIM:130720
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr...	ORPHA:98878
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de...	OMIM:618280
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Noonan Syndrome 14	Aortic regurgitation, Sparse eyebrow, Lateral ventricle dilatation, Bruising susceptibility, Hype...	OMIM:619745
Osteogenesis Imperfecta	Carious teeth, Aortic root aneurysm, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Mitr...	ORPHA:666
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Retinal vas...	OMIM:192430
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Abnormal cranial nerve morphology, Venous insuffi...	ORPHA:624
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Benign Schwannoma	Peripheral schwannoma, Schwannoma, Abnormality of the liver, Vestibular schwannoma, Abnormal cran...	ORPHA:252164
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Ventriculomegaly, Atrial septal defect, Umbilical hernia	OMIM:618354
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Chromosome 9P Deletion Syndrome	Highly arched eyebrow, Retrognathia, Fair hair, Micrognathia, Ventricular septal defect, Perimemb...	OMIM:158170
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra...	ORPHA:136
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Lateral ventricle dilatation, Bicoronal synostosis, Agenesis of corp...	OMIM:618736
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	High anterior hairline, Muscular ventricular septal defect, Short stature, Notched primary centra...	OMIM:620062
Pontocerebellar Hypoplasia, Type 12	Polyhydramnios, Micrognathia, Lateral ventricle dilatation, Joint contracture	OMIM:618266
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc...	OMIM:620278
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Cryptorchidism, Hand muscle atrophy, Ventricular septal defect, Age...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Cryptorchidism, Hand muscle atrophy, Ventricular septal defect, Age...	ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Hip contracture, Ventricular septa...	OMIM:619503
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Dilated third ventricle, Sparse eyebrow, Retrognathia, Lateral ventricle dilatati...	ORPHA:464738
Distal Deletion 10Q	Hip dislocation, Lateral ventricle dilatation, Postnatal growth retardation, Lumbar hyperlordosis...	ORPHA:96148
Methanol Poisoning	Abnormal optic nerve morphology, Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebr...	ORPHA:31825
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Lateral ventricle dilatation, Supernumerary nipple, Abnormal heart mo...	ORPHA:457279
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Ogden Syndrome	Delayed cranial suture closure, Torsade de pointes, Postnatal growth retardation, Micrognathia, C...	OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Lateral ventricle dilatation, Elbow dislocation, Micrognathia, C...	OMIM:210710
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Branchial cyst, Ventricular...	ORPHA:508488
Cerebral Cavernous Malformations 2	Stroke, Cerebral cavernous malformation, Telangiectasia, Cerebral hemorrhage	OMIM:603284
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Gillespie Syndrome	Aniridia, Ventriculomegaly, Truncus arteriosus	OMIM:206700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Micrognathia, Cryptorchidism, Persistent left superior vena cava, Overriding...	ORPHA:3304
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Highly arched eyebrow, Branchial fistula, Camptodactyly of finger, Intraute...	ORPHA:261330
Adams-Oliver Syndrome 2	Optic atrophy, Alopecia, Lateral ventricle dilatation, Micrognathia, Oligohydramnios, Low anterio...	OMIM:614219
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Osteopenia, Platyspondyly, Highly arched eyebrow, High anterior ha...	OMIM:620662
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Myelomen...	OMIM:613686
Double Outlet Left Ventricle	Systolic heart murmur, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonar...	ORPHA:3427
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Lateral ventricle dilatation, Intrauterine growth retardation, Microgn...	ORPHA:284417
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation,...	OMIM:611209
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration...	OMIM:608836
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se...	OMIM:113000
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse eyebrow, Lateral ventricle dilatation, Patent foramen ovale, Kyphoscoliosis, Hyposegmentat...	OMIM:620075
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Pontocerebellar Hypoplasia, Type 1A	Distal amyotrophy, Congenital contracture, Lateral ventricle dilatation, Spinal muscular atrophy,...	OMIM:607596
Joubert Syndrome 3	Highly arched eyebrow, Pigmentary retinopathy, Enlarged fossa interpeduncularis, Lateral ventricl...	OMIM:608629
Wyburn-Mason Syndrome	Retinal vascular malformation, Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal...	ORPHA:53719
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Sparse eyebrow, Lateral ventricle dilatation, Intrauterine gr...	OMIM:617557
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Abeta Amyloidosis, Iowa Type	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Primary Ciliary Dyskinesia	Ventriculomegaly, Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial...	ORPHA:244
Monosomy 18Q	Aortic valve stenosis, Mitral regurgitation, Patent ductus arteriosus, Delayed skeletal maturatio...	ORPHA:1600
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Hypo...	ORPHA:449285
Koolen-De Vries Syndrome	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se...	OMIM:610443
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Micrognathia, ...	OMIM:312150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Capillary hemangioma, Absent gallbladder, Cryptorchidism, Ventricular se...	ORPHA:163979
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma...	ORPHA:1900
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Thoracic hemivertebrae, Micrognathia, Butterfly vertebrae, Patent foramen...	OMIM:301043
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Decreased nerve conduction velocity, Intrauterine growth retardatio...	ORPHA:565624
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, HbH hemoglobin, Umbilical hernia, Postnatal growth retardation, Cryptorchidism, Ven...	OMIM:301040
3C Syndrome	Aortic valve stenosis, Chorioretinal coloboma, Postnatal growth retardation, Micrognathia, Abnorm...	ORPHA:7
Giant Axonal Neuropathy 1, Autosomal Recessive	Distal amyotrophy, Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropat...	OMIM:256850
Cardiospondylocarpofacial Syndrome	Delayed skeletal maturation, Carpal synostosis, Muscular ventricular septal defect, Fusion of mid...	OMIM:157800
Shashi-Pena Syndrome	Highly arched eyebrow, Ventriculomegaly, Dilation of Virchow-Robin spaces, Retrognathia, Kyphosis...	OMIM:617190
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Increased variability in muscle fiber diameter, Elevated circulating hep...	ORPHA:17
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, High anterior hairline, Micrognathia, Curly eyelashes, Congenital diaphra...	OMIM:301022
Fumarase Deficiency	Optic atrophy, Ventriculomegaly, Cutaneous leiomyoma, Intrahepatic cholestasis, Polycythemia, Hep...	OMIM:606812
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Retrognathia, Lateral ventricle dilatation, Tetralogy of Fallot, Dilated fourth v...	OMIM:619869
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Kyphosis, Decreased response to growth hormone stimulation test, Cont...	OMIM:618223
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin...	OMIM:620300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Hypertrichosis, Muscular ventricular septal defect, Butterfly vertebrae, Low poster...	OMIM:619227
Mungan Syndrome	Barrett esophagus, Tricuspid regurgitation, Abnormality of the autonomic nervous system, Perimemb...	OMIM:611376
Femoral-Facial Syndrome	Micrognathia, Encephalocele, Humeroradial synostosis, Ventricular septal defect, Limited elbow mo...	OMIM:134780
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Thick eyebrow, Cryptorchidism, ...	ORPHA:2332
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Limitation of joint mobility, Subdural ...	ORPHA:169802
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Talipes valgus, Decreased nerve conduction velocity, Ventricular septal def...	OMIM:616652
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Micrognathia, ...	OMIM:253290
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Atrial septal defect, Torticollis, Short stature, Patent ductus arteri...	OMIM:249670
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Dilation of Virchow...	OMIM:619517
Fibronectin Glomerulopathy	Hypertension, Pedal edema, Cerebral hemorrhage	ORPHA:84090
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Wrinkly Skin Syndrome	Hypoplasia of the musculature, Carious teeth, Delayed cranial suture closure, Cryptorchidism, Spa...	OMIM:278250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro...	OMIM:607155
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Ventriculomegaly, Atrioventricular canal defect, Tricuspid regurgitation, Congenital diaphragmati...	ORPHA:1120
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Cerebral hemorrhage, Anem...	OMIM:618886
Diabetic Embryopathy	Spinal dysraphism, Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of ...	ORPHA:1926
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Wideni...	OMIM:606842
Malan Overgrowth Syndrome	Ventriculomegaly, Optic disc hypoplasia, Lateral ventricle dilatation, Low posterior hairline, Ac...	ORPHA:420179
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Martsolf Syndrome 2	Short stature, Camptodactyly, Lateral ventricle dilatation, Camptodactyly of finger	OMIM:619420
Weaver Syndrome	Sparse hair, Joint contracture of the hand, Ventriculomegaly, Kyphosis, Retrognathia, Lateral ven...	OMIM:277590
Down Syndrome	Shallow acetabular fossae, Atlantoaxial instability, Tetralogy of Fallot, Atrioventricular canal ...	OMIM:190685
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Micrognathia, Myopathy, Telangiectasia, Visceral angiomatosis, Abnorm...	ORPHA:109
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, T...	ORPHA:210122
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Sinus tachycardia, Cranial nerve com...	ORPHA:29072
Noonan Syndrome 12	Ventriculomegaly, Tetralogy of Fallot, Decreased response to growth hormone stimulation test, Lym...	OMIM:618624
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Bruising susceptibility, ...	ORPHA:99828
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Abnormal thalamus morphology, Congenital fibrosis of extraocular mu...	ORPHA:300570
Brain Small Vessel Disease 2	Ventriculomegaly, Intracranial hemorrhage, Growth delay	OMIM:614483
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr...	OMIM:619657
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Micrognathia, Subependymal cysts	OMIM:600721
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Micrognathia, Cryptorchidism, Mitral valve prolapse, Low posterior hairline...	OMIM:618000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Aganglionic megacolon, Int...	OMIM:613603
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Cranial nerve compression, Congestive heart fai...	ORPHA:276621
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Micrognath...	OMIM:201000
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of tee...	OMIM:619229
Craniofacioskeletal Syndrome	Interrupted aortic arch, Intrauterine growth retardation, Micrognathia, Absent gallbladder, Crypt...	OMIM:300712
Perlman Syndrome	Interrupted aortic arch, Renal hamartoma, Nephroblastomatosis, Ascites, Micrognathia, Congenital ...	OMIM:267000
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Cardiomyopathy, Micrognathia, Acetabular dysplasia, Myopathy, Cervical C2/C3 ver...	OMIM:616549
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage	ORPHA:98880
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Vertebral hypoplasia, Butterfly vertebrae, Cry...	OMIM:206900
Erythrocytosis, Familial, 2	Hypotension, Increased hematocrit, Varicose veins, Increased red blood cell mass, Stroke, Increas...	OMIM:263400
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventri...	OMIM:603387
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ...	OMIM:609053
Circumvallate Placenta Syndrome	Polyhydramnios, Intracranial hemorrhage	OMIM:215550
Holt-Oram Syndrome	Elbow dislocation, Micrognathia, Atrioventricular dissociation, Mitral regurgitation, Hypoplasia ...	OMIM:142900
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar...	ORPHA:363705
Glossopharyngeal Neuralgia	Cranial nerve compression, Schwannoma, Neoplasm, Abnormal glossopharyngeal nerve morphology, Abno...	ORPHA:221098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Muscular dystrophy, Dilated third ventricle, Increased endomysial connective tissu...	OMIM:613154
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Metastatic a...	OMIM:304050
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Pseudopapilledema, Stroke, Intracranial hemorrhage	ORPHA:140989
Microphthalmia, Syndromic 2	Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Contract...	OMIM:300166
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Micrognathia, Ventricular septal defect, Tr...	ORPHA:1913
Giant Cell Arteritis	Optic atrophy, Vasculitis, Hepatic failure, Epistaxis, Aortic dissection, Double outlet right ven...	ORPHA:397
Methylmalonic Acidemia With Homocystinuria Type Cblf	Abnormal heart morphology, Intrauterine growth retardation, Reduced number of intrahepatic bile d...	ORPHA:79284
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation...	ORPHA:91387
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat...	ORPHA:1667
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Abnormal optic nerve morphology, Bruising susceptibi...	ORPHA:3226
Tarp Syndrome	Optic atrophy, Hepatic failure, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth ret...	OMIM:311900
Meningioma	Neoplasm of the skin, Lower limb muscle weakness, Increased circulating prolactin concentration, ...	ORPHA:2495
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow flexion contracture...	OMIM:178110
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Intrauterine growth retardation, ...	ORPHA:572798
Alg2-Cdg	Hepatomegaly, Iris coloboma, Lateral ventricle dilatation	ORPHA:79326
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Cog5-Cdg	Joint contracture of the hand, Elevated circulating hepatic transaminase concentration, Abnormali...	ORPHA:263487
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Pleural effus...	ORPHA:464329
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Ventriculomegaly, Dysplastic pulmonary valve, Scoliosis	OMIM:300958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrop...	OMIM:253800
Tetrasomy 15Q26	Microretrognathia, Intrauterine growth retardation, Kyphoscoliosis, Atrial septal defect, Hydroce...	OMIM:614846
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation...	ORPHA:544488
Prader-Willi Syndrome Due To Translocation	Carious teeth, Retrognathia, Lateral ventricle dilatation, Abnormal heart morphology, Decreased r...	ORPHA:177907
Craniosynostosis 6	Lateral ventricle dilatation, Right unilambdoid synostosis, Delayed cranial suture closure, Bicor...	OMIM:616602
Phaver Syndrome	Abnormal form of the vertebral bodies, Camptodactyly of finger, Myelomeningocele, Pterygium, Intr...	ORPHA:2876
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Delayed sk...	ORPHA:2326
Propionic Acidemia	Cardiomyopathy, Pancytopenia, Hepatomegaly, Cerebellar hemorrhage, Anemia, Limb hypertonia, Pancr...	OMIM:606054
Coffin-Siris Syndrome 3	Sparse scalp hair, Delayed skeletal maturation, Umbilical hernia, Abnormal heart morphology, Hype...	OMIM:614608
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Edema, Congestive heart...	ORPHA:90308
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Lateral ventricle dilatation, Optic nerve dysplasia, Limb hypertonia, Po...	OMIM:617296
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regu...	ORPHA:313892
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Post-partum hemorrhage, Prolonged bleed...	ORPHA:465
Frank-Ter Haar Syndrome	Osteopenia, Secundum atrial septal defect, Dental malocclusion, Delayed cranial suture closure, M...	OMIM:249420
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Micrognathia, Bicuspid aortic valve, Short neck, Atrial septal defect, Patent du...	OMIM:612474
Hemiparkinsonism-Hemiatrophy Syndrome	Scoliosis, Lateral ventricle dilatation	ORPHA:306669
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Neonatal death, Bradycardia, Camptodactyly, Flexion contracture, Su...	OMIM:610015
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Decreased muscle mass, Recurrent fractures, Joint hyper...	OMIM:616507
Fryns Syndrome	Abnormal aortic arch morphology, Ventriculomegaly, Tetralogy of Fallot, Micrognathia, Abnormal ao...	ORPHA:2059
Digeorge Syndrome	Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Hepatic ...	OMIM:188400
Weiss-Kruszka Syndrome	Highly arched eyebrow, Ventriculomegaly, Dextrotransposition of the great arteries, Ventricular s...	OMIM:618619
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Lateral ventricle dilatation, Abnormality of the hairline, Cryptorchidism, ...	OMIM:607872
8p23.1 deletion syndrome	Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto...	DECIPHER:39
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h...	OMIM:619534
Distal 7Q11.23 Microduplication Syndrome	Benign neoplasm of the central nervous system, Congenital diaphragmatic hernia, Cryptorchidism, A...	ORPHA:261102
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Axonal loss, Peripheral demyelination, Lateral ventricle dilatation, Pathologic fracture	OMIM:221770
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility, Coarctation of aorta, Transp...	ORPHA:261243
Congenital Factor Ii Deficiency	Epistaxis, Joint hemorrhage, Abnormal bleeding, Prolonged bleeding following circumcision, Excess...	ORPHA:325
Neurocutaneous Melanocytosis	Ventriculomegaly, Chorioretinal coloboma, Neoplasm, Intracranial hemorrhage, Abnormality of retin...	ORPHA:2481
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Cockayne Syndrome Type 3	Carious teeth, Aortic root aneurysm, Dry hair, Premature graying of hair, Peripheral axonal neuro...	ORPHA:90324
Distal Triplication 15Q	Kyphosis, Retrognathia, Hydrocele testis, Abnormal heart morphology, Intrauterine growth retardat...	ORPHA:314588
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Cryptorchid...	OMIM:615524
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Distal amyotrophy, Lateral ventricle dilatation, Lower limb muscle weakness...	ORPHA:2822
Sarcosinemia	Hypertrophic cardiomyopathy, Optic atrophy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Normocytic anemia, Aortic regurgitation, Joint hemorrhage, Hypochromic ane...	ORPHA:99147
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lateral ventricle dilatation, Absent gallbladder, Atrial septal defect, Curly hair, Hypoplasia of...	ORPHA:500150
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:600348
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Enlarged vertebral pedicles, Cryptorchidism,...	OMIM:139210
8P23.1 Duplication Syndrome	Highly arched eyebrow, Tetralogy of Fallot, Ventricular septal defect, Exostoses, Pulmonic stenosis	ORPHA:251076
Feingold Syndrome Type 1	Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,...	ORPHA:391641
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventriculomegaly, Chorioretinal coloboma, Abnormal heart morphology, Ven...	ORPHA:284169
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Peripheral demyelination, Neutropenia, Jaundice, Macular coloboma, Abnormal heart morphology, Hyd...	ORPHA:79282
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Bea...	OMIM:150250
Skraban-Deardorff Syndrome	Ventriculomegaly, Sparse lateral eyebrow, Hyperplasia of the maxilla, Micrognathia, Right aortic ...	OMIM:617616
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Elbow flexion contracture, Micrognathia, Polyhydramnios, Knee flexi...	OMIM:300868
Frontonasal Dysplasia 1	Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand, Anterior basa...	OMIM:136760
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Chorioretinal coloboma, Ventricular septal defect, Elevated circul...	OMIM:280000
Ring Chromosome 21 Syndrome	Thoracic hemivertebrae, Abnormal heart morphology, Fused thoracic vertebrae, Short stature, Scoli...	ORPHA:1445
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Aortic root aneurysm, Cryptorchidism, Mitral regurgitation, Ventricular septal defect, Low poster...	OMIM:617506
Microgastria-Limb Reduction Defect Syndrome	Elbow dislocation, Abnormality of the spleen, Congenital muscular torticollis, Truncus arteriosus...	ORPHA:2538
Feingold Syndrome 1	Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Micrognathia, Ventricul...	OMIM:164280
Koolen-De Vries Syndrome	Ventriculomegaly, Kyphosis, Abnormal dental enamel morphology, Cryptorchidism, Vertebral segmenta...	ORPHA:96169
German Syndrome	Limitation of joint mobility, Camptodactyly of finger, Tetralogy of Fallot, Lymphedema, Abnormal ...	ORPHA:2077
Sifrim-Hitz-Weiss Syndrome	Ventriculomegaly, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Wormian bones, ...	OMIM:617159
Duane-Radial Ray Syndrome	Iris coloboma, Optic disc hypoplasia, Retinal coloboma, Shoulder dislocation, Pectoralis hypoplas...	OMIM:607323
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Decrease...	OMIM:615368
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef...	OMIM:270100
Sneddon Syndrome	Arterial stenosis, Hypertension, Intracranial hemorrhage	ORPHA:820
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Hypertensive retinop...	OMIM:171420
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Peripheral pulmonary artery stenosis, Lumbar hypertrichosis, Nail dystrophy,...	ORPHA:163956
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum m...	ORPHA:99811
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral ...	OMIM:305620
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Bruising s...	OMIM:277450
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Polyhydramnios, Alopecia of scalp, Abnorma...	OMIM:615280
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, S...	OMIM:214300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle di...	OMIM:619575
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Muscular ventricular septal defect, Low anterior hairline, Dysplastic corpus callosum, ...	OMIM:618569
Donnai-Barrow Syndrome	Umbilical hernia, Widow's peak, Congenital diaphragmatic hernia, Ventricular septal defect, Retin...	ORPHA:2143
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Carious teeth, High anterior hairline, Lateral ventricle dilatation, Abnormal h...	OMIM:615873
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Decreased liver function, Edema, Long eyelashes, Pleural effusion, ...	OMIM:618606
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Premature graying of hair, ...	ORPHA:363618
De Barsy Syndrome	Prominent veins on trunk, Decreased muscle mass, Postnatal growth retardation, Cryptorchidism, Ve...	ORPHA:2962
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage, Craniosynostosis	ORPHA:401986
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Postnatal growth retardation, Micrognathia, Low posterior hairline, Short n...	OMIM:213980
Lowry-Maclean Syndrome	Osteopenia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, Retrognathia, Bilater...	ORPHA:2409
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Hip dislocation, Double outlet right ven...	ORPHA:1596
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Mitral regurgitation, Ventricular ...	OMIM:615355
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1780
15Q24 Microdeletion Syndrome	High anterior hairline, Abnormal heart morphology, Postnatal growth retardation, Myelomeningocele...	ORPHA:94065
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Bilateral cryptorchidism	OMIM:300982
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	ORPHA:99901
Alkaptonuria	Aortic valve calcification, Limited hip movement, Thickened Achilles tendon, Intervertebral disk ...	OMIM:203500
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Flexion contracture, Scoliosis, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation	ORPHA:2148
Nestor-Guillermo Progeria Syndrome	Micrognathia, Mitral regurgitation, Limited elbow movement, Sparse eyelashes, Right atrial enlarg...	OMIM:614008
Seckel Syndrome 9	Pulmonary artery hypoplasia, Ventriculomegaly, Hypertrichosis, Intrauterine growth retardation, M...	OMIM:616777
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Cerebral Visual Impairment	Optic atrophy, Ischemic stroke, Hydrocephalus, Retinopathy of prematurity, Optic disc pallor, Int...	ORPHA:447788
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis of the externa...	OMIM:619472
Bainbridge-Ropers Syndrome	Sparse hair, Highly arched eyebrow, Retrognathia, Lateral ventricle dilatation, Supernumerary nip...	OMIM:615485
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentrati...	ORPHA:394
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Hepatic fibrosis, Lateral ventricle dilatation, Hamartoma of tongue, Tricuspid reg...	OMIM:263520
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Intrauterine growth retardation, V...	OMIM:618775
Aarskog-Scott Syndrome	Genu recurvatum, Hypoplasia of the maxilla, High anterior hairline, Delayed eruption of teeth, Ca...	ORPHA:915
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Stiff neck, Lim...	ORPHA:297
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Aortic root aneurysm, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, Mitral valve pr...	OMIM:245600
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Aortic root aneurysm, Intrauterine growth retardation, Congenital diaphragmatic he...	OMIM:617602
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Micrognathia, Polyhydramnios, A...	OMIM:619833
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,...	ORPHA:373
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Frontal hirsutism, Retrognathia, Micrognathia, Diastasis recti, Spleno...	OMIM:608149
Meacham Syndrome	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar...	OMIM:608978
Menkes Disease	Micrognathia, Tarsal synostosis, Sparse hair, Gastrointestinal hemorrhage, Osteomyelitis, Vascula...	ORPHA:565
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of finger, Intrauterine gr...	ORPHA:2311
Chops Syndrome	Optic atrophy, Coarse hair, Tracheomalacia, Long eyelashes, Thick eyebrow, Cryptorchidism, Patent...	OMIM:616368
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Macular hyp...	OMIM:615219
Zaki Syndrome	Sparse eyebrow, Sparse scalp hair, Sparse lateral eyebrow, Dilated fourth ventricle, Micrognathia...	OMIM:619648
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Cantu Syndrome	Platyspondyly, Congenital hypertrophy of left ventricle, Delayed skeletal maturation, Umbilical h...	OMIM:239850
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Mitral regurgitation, Ventricular ...	OMIM:614866
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Hypertrichosis, Postnatal growth retardation, Intrauterine growth retardation, Olig...	OMIM:620113
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ...	OMIM:605376
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Tetralogy of Fallot, Postnata...	ORPHA:959
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Disproportionate short stature, Tetralogy of Fallot, Micrognathia, Knee c...	OMIM:222765
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Hellp Syndrome	Generalized edema, Hypotension, Elevated circulating hepatic transaminase concentration, Microang...	ORPHA:244242
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Ischemic stroke, Prolonged QRS compl...	ORPHA:90068
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Intervertebr...	OMIM:619656
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc...	ORPHA:1335
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Vert...	OMIM:277300
Kabuki Syndrome 1	Abnormal vertebral morphology, Lateral ventricle dilatation, Postnatal growth retardation, Microg...	OMIM:147920
Aspergillosis	Abnormality of the vertebral column, Hepatitis, Osteomyelitis, Pleural effusion, Stroke, Eosinoph...	ORPHA:1163
Idiopathic Hypereosinophilic Syndrome	Angioedema, Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutroph...	ORPHA:3260
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Disproportionate short-limb short stature, Stillbirth...	OMIM:241500
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Visceral angi...	ORPHA:774
Charge Syndrome	Postnatal growth retardation, Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defec...	OMIM:214800
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Bilateral Generalized Polymicrogyria	Short stature, Growth delay, Lateral ventricle dilatation	ORPHA:208447
Mirage Syndrome	Lymphopenia, Intrauterine growth retardation, Decreased testicular size, Leukopenia, Cryptorchidi...	OMIM:617053
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Ventriculomegaly, Dilated cardiomyopathy, Increased mean corpuscular volum...	ORPHA:261250
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve...	OMIM:609008
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Frontotemporal hypertrichosis, Retrognathia, Abnormal heart morphology, Micr...	OMIM:263210
Holoprosencephaly	Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Congenital diaphragmatic hernia...	ORPHA:2162
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Ventriculomegaly, Pigmentary retinopathy, Trichiasis, Tricuspid regurgitat...	OMIM:618460
Basal Cell Nevus Syndrome 1	Iris coloboma, Hamartomatous stomach polyps, Vertebral wedging, Cardiac rhabdomyoma, Medulloblast...	OMIM:109400
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Intrauterine growth retar...	ORPHA:2209
Developmental Delay With Or Without Dysmorphic Facies And Autism	Highly arched eyebrow, Ventriculomegaly, Optic disc coloboma, Umbilical hernia, Supernumerary nip...	OMIM:618454
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather...	ORPHA:494424
Factor Vii Deficiency	Epistaxis, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after...	OMIM:227500
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Optic neuritis, B lymphocytopenia, Neutropeni...	OMIM:301081
Microcephaly With Cervical Spine Fusion Anomalies	Short stature, Spinal instability, Vertebral fusion	OMIM:251250
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Intellectual Disability-Strabismus Syndrome	Highly arched eyebrow, Joint contracture of the hand, Limitation of joint mobility, Decreased res...	ORPHA:363528
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hematochezia, Highly arched eyebrow, Dilation of Virchow-R...	ORPHA:261311
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Patent foramen ovale, Short neck, Coloboma, Transposition of the great arteries, ...	OMIM:616789
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Adrenal hyperplasia, Ve...	ORPHA:369929
Holoprosencephaly 14	Ventriculomegaly, Partial agenesis of the corpus callosum, Ventricular septal defect, Double outl...	OMIM:619895
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Coarse hair, Retrognathia, Pancreatic hypoplasia, Postn...	ORPHA:83617
Toriello-Carey Syndrome	Wide anterior fontanel, Ventriculomegaly, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Po...	ORPHA:3338
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Hypomimic face	OMIM:617854
Noonan Syndrome With Multiple Lentigines	Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Melanoma, Arrhythmia, Hy...	ORPHA:500
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Degcags Syndrome	Premature graying of hair, Cholestasis, Hepatosplenomegaly, Micrognathia, Genu valgum, Pancytopen...	OMIM:619488
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa...	OMIM:187300
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Ventricular septal defect, Telangiectasia, Short neck, Cirrhosi...	OMIM:606003
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Abnormal vertebral morphology, Sparse scalp hair, Prominent scalp veins, S...	ORPHA:536471
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Retrognathia, Tracheomalacia, Persist...	OMIM:612561
Alg3-Cdg	Osteopenia, Cardiomyopathy, Decreased liver function, Dandy-Walker malformation, Coarctation of t...	ORPHA:79321
Rhizomelic Syndrome, Urbach Type	Wide anterior fontanel, Rhizomelia, Limitation of joint mobility, Abnormal form of the vertebral ...	ORPHA:3098
Trisomy 1Q	Ventriculomegaly, Microretrognathia, Camptodactyly of finger, Increased nuchal translucency, Cong...	ORPHA:261344
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ...	OMIM:601927
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Age...	OMIM:619244
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation, Synophrys	OMIM:609637
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Carious teeth, Delayed skeletal maturation, Hypertrophic cardiomyopathy, Crypt...	ORPHA:2701
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Gorlin Syndrome	Abnormal vertebral morphology, Iris coloboma, Carious teeth, Vertebral wedging, Meningioma, Neopl...	ORPHA:377
Menkes Disease	Alopecia, Intrauterine growth retardation, Joint hypermobility, Wormian bones, Brittle hair, Shor...	OMIM:309400
Hemophilia B	Joint hemorrhage, Prolonged bleeding after dental extraction, Spontaneous, recurrent epistaxis, C...	ORPHA:98879
Medulloblastoma	Neoplasm of the lung, Elevated circulating hepatic transaminase concentration, Delayed cranial su...	ORPHA:616
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Abnormal heart morphology, Postnatal growth retardation,...	ORPHA:91412
Proteus Syndrome	Venous malformation, Splenomegaly, Kyphoscoliosis, Multiple lipomas, Hemangioma, Lipoma, Spinal c...	OMIM:176920
White-Sutton Syndrome	Iris coloboma, Hypoplastic cervical vertebrae, Intrauterine growth retardation, Micrognathia, Fac...	OMIM:616364
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Postnatal growth retardation, Tr...	ORPHA:75249
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Renal artery stenosi...	OMIM:171300
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg...	ORPHA:1110
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di...	OMIM:613795
Pseudotrisomy 13 Syndrome	Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Cryptorchidism,...	OMIM:264480
Prune Belly Syndrome	Congenital hip dislocation, Tetralogy of Fallot, Decreased testicular size, Oligohydramnios, Cryp...	ORPHA:2970
Parkes Weber Syndrome	Arteriovenous malformation, Myelopathy, Vascular tortuosity, Lower limb muscle weakness, Abnormal...	ORPHA:90307
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Cryptorchidism, Ventricular septal defect, Cerebral hemorrhage, Scoliosis, Reduced b...	OMIM:616682
Fliedner-Zweier Syndrome	Hypoplastic aortic arch, Ventricular septal defect, Joint hypermobility, Bicuspid aortic valve, M...	OMIM:620511
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne...	OMIM:601596
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Tracheomalacia, Chorioretinal coloboma, Micrognathia, Congenital diaphr...	ORPHA:268249
Mosaic Trisomy 20	Retrognathia, Spinal canal stenosis, Intrauterine growth retardation, Micrognathia, Cryptorchidis...	ORPHA:1724
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Factor X Deficiency	Gingival bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolonged proth...	OMIM:227600
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal...	ORPHA:2847
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Abnormal thalamus morphology, Sacral dimple, Micrognathia, Knee flexion ...	ORPHA:435638
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Intrauterine growth retardation, Abnormal lateral ventricle morphology, Joint hypermobility, Grow...	ORPHA:488635
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation	OMIM:602200
Lissencephaly 4	Short stature, Colpocephaly, Growth delay, Agenesis of corpus callosum	OMIM:614019
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hemangioma, Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Micrognathia, Complet...	OMIM:619343
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Sparse hair, Lateral ventricle dilatation	OMIM:614105
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydram...	OMIM:614702
Dworschak-Punetha Neurodevelopmental Syndrome	Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Sparse lateral eyebrow, Agenesis of corp...	OMIM:619955
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intrauterine growth retardation, Neonatal death, Intraventricular hemorrhage, Prolonged prothromb...	OMIM:619055
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Intrauterine growth retardation, Micrognathia, Abnormality of the ...	ORPHA:2075
Noonan Syndrome 10	Sparse eyebrow, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mit...	OMIM:616564
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Iris coloboma, Retrognathia, Optic disc coloboma, Ventricular septal defect, Agenesis of corpus c...	ORPHA:52055
Robinow Syndrome	High anterior hairline, Dental malocclusion, Umbilical hernia, Abnormal heart morphology, Persist...	ORPHA:97360
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Glycogen Storage Disease Ii	Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Splenom...	OMIM:232300
Arterial Tortuosity Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Aortic root aneurysm, Bruis...	OMIM:208050
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial tel...	OMIM:600376
Cooper-Jabs Syndrome	Umbilical hernia, Camptodactyly of finger, Reduced bone mineral density, Congenital diaphragmatic...	ORPHA:1488
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Left ventricular hypertrophy, Prolonged QT interval, Intracranial...	ORPHA:251274
Wildervanck Syndrome	Pseudopapilledema, Low posterior hairline, Short neck, Meningocele, Facial palsy, Fused cervical ...	ORPHA:3456
Kniest Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, S...	ORPHA:485
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, Atrial septal def...	OMIM:614262
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Hemothorax, Abno...	ORPHA:79
Noonan Syndrome 9	Sparse eyebrow, Cryptorchidism, Ventricular septal defect, Short neck, Coarctation of aorta, Prol...	OMIM:616559
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular...	ORPHA:96121
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Agenesis of corpu...	OMIM:194190
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation	OMIM:615716
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Sparse lateral eyebrow, Cryptorchidism, Ventricular septal defect, Dysplastic corpus callosum, Dy...	OMIM:619103
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Leukopenia, Cerebellar hemorrhage, Pancreatitis, Thrombocytopenia, Neutropenia, H...	OMIM:251000
Superficial Siderosis	Arteriovenous malformation, Abnormal bleeding, Lower limb muscle weakness, Abnormality of the ves...	ORPHA:247245
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Disproportionate short stature, Delayed skeletal maturation, Abnormal heart valve morphology, Mit...	ORPHA:2868
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid ca...	OMIM:300952
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Sparse hair, Growth delay, Pulmonic stenosis	OMIM:615508
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Reduced bone mineral density, Ventricular septal defect, Short neck,...	OMIM:615279
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Secundum atrial septal defect, Increased mean corpuscular ...	OMIM:612562
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Pigmentary retinopathy, Congenital diaphragmatic hernia, Histiocy...	OMIM:309801
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Hematochezia, Bruisi...	ORPHA:326
Opitz Gbbb Syndrome	Natal tooth, Aortic root aneurysm, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism,...	ORPHA:2745
Takenouchi-Kosaki Syndrome	Optic atrophy, Ventriculomegaly, Sparse eyebrow, Dental malocclusion, Highly arched eyebrow, Lymp...	OMIM:616737
Fetal Alcohol Syndrome	Intrauterine growth retardation, Micrognathia, Joint stiffness, Congenital diaphragmatic hernia, ...	ORPHA:1915
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Cong...	ORPHA:2916
Warsaw Breakage Syndrome	Optic disc coloboma, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retar...	OMIM:613398
Phace Association	Optic atrophy, Cavernous hemangioma of the face, Arterial stenosis, Ventricular septal defect, Li...	OMIM:606519
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Fetal ascites, Advanced tarsal ossification, Micrognathia, Preduct...	OMIM:215045
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Bruising susceptibility, Edema, Abnorma...	ORPHA:324636
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste...	OMIM:614300
Cutis Laxa-Marfanoid Syndrome	Limitation of joint mobility, Abnormal heart valve morphology, Congenital diaphragmatic hernia, F...	ORPHA:171719
Rhizomelic Syndrome	Wide anterior fontanel, Rhizomelia, Micrognathia, Short stature, Hip dislocation, Pulmonic stenosis	OMIM:268250
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Osteopenia, Sparse scalp hair, Sparse eyebrow, Skeletal muscle atrophy, Te...	ORPHA:75496
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Lymphopenia, Pancytopenia, Micrognathia, Ventricul...	OMIM:620654
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Micrognathia, Congenital diap...	ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 25	Short stature, Ventriculomegaly, Intraventricular hemorrhage	OMIM:616430
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
X-Linked Intellectual Disability, Wilson Type	Growth delay, Lateral ventricle dilatation, Abnormal position of hair whorl, Hydrocele testis, Ma...	ORPHA:85290
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Micrognathia, Aplasia/Hypoplasia of the patella, Abnormal cardiac septum mor...	ORPHA:3320
Lessel-Kreienkamp Syndrome	Dental malocclusion, Patent foramen ovale, Wide cranial sutures, Bicuspid aortic valve, Atrial se...	OMIM:619149
Tonne-Kalscheuer Syndrome	Fine hair, Abnormal heart morphology, Decreased testicular size, Micrognathia, Congenital diaphra...	OMIM:300978
Chime Syndrome	Sparse hair, Acute leukemia, Fine hair, Retinal coloboma, Tetralogy of Fallot, Osteolysis, Ventri...	ORPHA:3474
Arachnoid Cyst	Enlarged fossa interpeduncularis, Lower limb muscle weakness, Cranial nerve compression, Sciatica...	ORPHA:2356
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho...	ORPHA:555874
Paganini-Miozzo Syndrome	Mandibular prognathia, Lateral ventricle dilatation	OMIM:301025
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Delayed skeletal maturation, Abnormal heart valve morphology, Tricuspid re...	ORPHA:228410
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Accelerated skeletal maturation, Aplasia/Hypoplasia of the o...	ORPHA:137634
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Temporomandibular joint crepitus, Decreased ampl...	ORPHA:2388
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect...	OMIM:314390
Van Esch-O'Driscoll Syndrome	Retrognathia, Intrauterine growth retardation, Ventricular septal defect, Pulmonary artery stenos...	OMIM:301030
Scalp-Ear-Nipple Syndrome	Iris coloboma, Sparse pubic hair, Lateral ventricle dilatation, Fine hair, Congestive heart failu...	OMIM:181270
Costello Syndrome	Delayed skeletal maturation, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Abno...	ORPHA:3071
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Spondyloenchondrodysplasia	Platyspondyly, Vasculitis, Ventriculomegaly, Dental malocclusion, Delayed eruption of teeth, Hepa...	ORPHA:1855
Familial Cerebral Cavernous Malformation	Choroidal hemangioma, Meningioma, Neuroma, Venous malformation, Retinal cavernous hemangioma, Hem...	ORPHA:221061
Diamond-Blackfan Anemia 16	Anemia, Atrial septal defect, Pulmonic stenosis	OMIM:617408
Cirrhotic Cardiomyopathy	Pulmonary edema, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Fourth heart sound, Jau...	ORPHA:57777
Nephrosialidosis	Pericardial effusion, Bone-marrow foam cells, Ascites	OMIM:256150
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal v...	OMIM:616028
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, P...	OMIM:235510
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ...	OMIM:185070
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Stiff neck, Intrauterine growth retardation, Micr...	OMIM:617022
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Hepatosplenomegaly, Micrognathia, Facial capillary hemangioma, Patellar aplasi...	OMIM:274000
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysplastic patella...	OMIM:265000
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo...	ORPHA:2414
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Lateral ventricle dilatation, Hyphema, Genu valgum, Cryptorchidism, Ventri...	ORPHA:261552
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Pigmentary retinopathy, Abnormal heart morphology, Palpebral edema...	OMIM:214110
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Neoplasm, Internal hemorrhage, Thrombocytopenia, Prolong...	ORPHA:49566
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Abnormal heart valve morp...	ORPHA:90652
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Retinal dystrophy, Skeletal muscle atrophy, Secundum atrial septal defect,...	OMIM:615802
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Short stature, Central diaphragm...	OMIM:617450
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Natal tooth, Increased circulating prolactin concentration, Prominent scalp ve...	ORPHA:3455
Lamb-Shaffer Syndrome	Optic atrophy, Thoracic kyphosis, Micrognathia, Mild postnatal growth retardation, Scoliosis, Fus...	ORPHA:530983
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Ventriculomegaly, Abnormal heart morphology, Micrognathia, Congeni...	ORPHA:261197
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Dpagt1-Cdg	Optic atrophy, Elevated circulating hepatic transaminase concentration, Anasarca, Hypertrichosis,...	ORPHA:86309
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Dental malocclusion, Abnormal bleeding, Delayed skeletal ...	OMIM:610733
Bilateral Polymicrogyria	Ventriculomegaly, Micrognathia, Facial diplegia, Abnormal glossopharyngeal nerve morphology, Abno...	ORPHA:268940
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Noonan Syndrome 2	Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hai...	OMIM:605275
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Postnatal growth retardation, Hepatosplenomegaly, Micrognath...	ORPHA:96334
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr...	OMIM:605714
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ...	OMIM:619433
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocephalus	OMIM:616034
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Micrognathia, Situs inve...	ORPHA:1908
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Age...	ORPHA:280
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti...	ORPHA:903
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Splenomegaly, Femur fractur...	OMIM:612301
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Ventriculomegaly, Highly arched eyebrow, Tetralogy o...	ORPHA:96147
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Smith-Lemli-Opitz Syndrome	Micrognathia, Facial capillary hemangioma, Congenital diaphragmatic hernia, Cryptorchidism, Ventr...	ORPHA:818
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Short stature, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Thoracic hemivertebrae, Micrognathia, Cryptorchidism, Short neck,...	OMIM:268310
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Hip dislocation, Retrognathia, Tetralogy of Fallot, Temporomandibular joi...	OMIM:154400
Vascular Hyalinosis	Chorioretinal scar, Hematochezia, Premature graying of hair, Subarachnoid hemorrhage, Vascular di...	OMIM:277175
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Intrauterine growth retardation, Congenital diaphragmatic h...	OMIM:614294
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Micrognathia, Conotruncal def...	ORPHA:40366
Lymphatic Malformation 6	Facial edema, Periorbital edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lym...	OMIM:616843
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Umbilica...	OMIM:115470
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont...	OMIM:613225
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Osteomalacia, Pancreatic calcifi...	ORPHA:51608
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Intrauterine growth retardation, Micrognathia, Heart murmur, Cryptorchidism, Ventricula...	ORPHA:166035
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co...	ORPHA:3097
Nelson Syndrome	Increased circulating prolactin concentration, Lower limb muscle weakness, Pituitary carcinoma, O...	ORPHA:199244
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Lateral ventricle dilatation, Genu valgum, Cryptorchidism, Agenesis of cor...	ORPHA:261537
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, D...	OMIM:243500
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Polyhydramnios, Lateral ventricle dilatation, Cryptorchidism	OMIM:619847
Autosomal Dominant Spastic Paraplegia Type 10	Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac...	ORPHA:100991
Kaposi Sarcoma	Neoplasm of the skin, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous ins...	ORPHA:33276
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Epiphyseal stippling, Neonatal death, Colpocephaly, Hepatomegaly	OMIM:614870
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Agenesis of corpus ...	OMIM:222448
Familial Idiopathic Dilatation Of The Right Atrium	Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo...	ORPHA:1677
Kleefstra Syndrome	Highly arched eyebrow, Ventriculomegaly, Limitation of joint mobility, Delayed eruption of teeth,...	ORPHA:261494
Chromosome 1Q41-Q42 Deletion Syndrome	Ventriculomegaly, Sparse eyebrow, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc...	OMIM:612530
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar...	OMIM:166300
Noonan Syndrome 5	Sparse eyebrow, Fine hair, Hypertrophic cardiomyopathy, Polyhydramnios, Cryptorchidism, Cubitus v...	OMIM:611553
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Tachycardia, Purpura, Diff...	ORPHA:99827
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Retrognathia, Contractures of the large joints, Abnor...	ORPHA:96092
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Edema, Hypertrophic cardiomyopathy, Polyhydramnios, Cryptorchid...	OMIM:613224
Kabuki Syndrome	Highly arched eyebrow, Ventriculomegaly, Abnormal form of the vertebral bodies, Sparse lateral ey...	ORPHA:2322
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Microform Holoprosencephaly	Iris coloboma, Tetralogy of Fallot, Panhypopituitarism, Intrauterine growth retardation, Agenesis...	ORPHA:280200
Pagod Syndrome	Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Abnormality of the spleen, Si...	ORPHA:991
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Decreased muscle mass, Elbow contracture, Thick eyebrow, Cryptorchidi...	OMIM:617137
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Bruising susceptibil...	ORPHA:327
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Oligohydramnios, Increased nuchal translucency, Fetal intraventricular hemorrhage, Limb hypertoni...	OMIM:618480
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Chorioretinal coloboma, Cervical C5/C6 vertebrae fusion, Thoraci...	OMIM:613702
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Facial paralysis, Dilation of Virchow-Robin spaces, Hypopigmentation of the fundus, Retinal arter...	OMIM:175780
Focal Dermal Hypoplasia	Iris coloboma, Alopecia, Chorioretinal coloboma, Umbilical hernia, Abnormal dental enamel morphol...	ORPHA:2092
Wiskott-Aldrich Syndrome	Gingival bleeding, Acute leukemia, Abnormal eosinophil morphology, Microcytic anemia, Lymphopenia...	ORPHA:906
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Postnatal growth retardation, Micrognathia, Cr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Postnatal growth retardation, Micrognathia, Cr...	ORPHA:353277
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Ventriculomegaly, Coronal craniosyn...	OMIM:101200
Weill-Marchesani Syndrome	Aortic valve stenosis, Limitation of joint mobility, Mitral regurgitation, Ventricular septal def...	ORPHA:3449
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti...	OMIM:620025
Glutaric Acidemia I	Hepatomegaly, Hydrocephalus, Symmetrical progressive peripheral demyelination, Lateral ventricle ...	OMIM:231670
Tyshchenko Syndrome	Supernumerary nipple, Intrauterine growth retardation, Polyhydramnios, Cryptorchidism, Ventricula...	OMIM:615102
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Ankle clonus	ORPHA:363654
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Elbow dislocation, Prominent veins on trunk, Micrognathia, Cryptorchidism, ...	ORPHA:536532
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Intrauterine growth retardation, Oligohydramnios, Thick eyebrow, Hy...	OMIM:300896
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Skeletal muscle atrophy, Cardiomyopathy, Opto-chiasmatic atrophy, Micrognathia, Pe...	OMIM:620089
Kapur-Toriello Syndrome	Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Dysplastic corpus callosum, Sho...	ORPHA:2328
Frontoocular Syndrome	Coronal craniosynostosis, Capillary hemangioma, Micrognathia, Atrial septal defect, Glabellar hem...	OMIM:605321
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ...	ORPHA:261183
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari...	ORPHA:91350
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Aicardi Syndrome	Optic atrophy, Ventriculomegaly, Block vertebrae, Sparse lateral eyebrow, Optic disc coloboma, Ch...	ORPHA:50
Phace Syndrome	Retinal vascular malformation, Iris coloboma, Ectopic thyroid, Aortic root aneurysm, Capillary he...	ORPHA:42775
Serkal Syndrome	Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal defect, Growth delay, Pulmon...	ORPHA:139466
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ...	OMIM:620519
Cardiofaciocutaneous Syndrome	Genu valgum, Cryptorchidism, Low posterior hairline, Short neck, Atrial septal defect, Brittle ha...	ORPHA:1340
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver...	OMIM:615382
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding f...	ORPHA:35909
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Abnormal heart morphology, Hip dislocation, Congenital diaphragmatic hernia	OMIM:614100
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous...	ORPHA:853
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Arteriovenous malformation, Tetralogy of Fallot, Ascites, ...	ORPHA:974
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Wildervanck Syndrome	Pseudopapilledema, Fused cervical vertebrae	OMIM:314600
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu...	OMIM:618469
Ferguson-Bonni Neurodevelopmental Syndrome	Micrognathia, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ...	OMIM:619699
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Kawasaki Disease	Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:2331
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Lymphoma, Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusi...	ORPHA:36412
Orofaciodigital Syndrome V	Optic disc coloboma, Tetralogy of Fallot, Hamartoma of tongue, Ventricular septal defect, Agenesi...	OMIM:174300
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Absent pubertal growth spurt, Neoplasm, Congenital diaphragmatic hernia, Telangiectasia of the sk...	ORPHA:438134
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Micrognathia, Mitral regurgitation, Mitral valve p...	ORPHA:555877
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Joint hypermobility, Low posterior hairline, Lentigo maligna melanom...	OMIM:613706
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Ventriculomegaly, Retrognathia, Aortic dissection, Bruising susceptibility, Micrognathia, Joint h...	OMIM:618343
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dehydration, Pulmonic stenosis	ORPHA:79159
Keratoconus Posticus Circumscriptus	Short neck, Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation...	OMIM:244600
Coffin-Siris Syndrome 4	Macroglossia, Sparse scalp hair, Delayed skeletal maturation, Hypertrichosis, Mitral atresia, Int...	OMIM:614609
Distal Deletion 19P	Hypoplasia of the maxilla, Alopecia, Umbilical hernia, Thick eyebrow, Ventricular septal defect, ...	ORPHA:96129
Vacterl/Vater Association	Occipital encephalocele, Intrauterine growth retardation, Abnormality of the gallbladder, Congeni...	ORPHA:887
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Bic...	ORPHA:353281
Cardiofaciocutaneous Syndrome 1	Micrognathia, Absent eyelashes, Peripheral axonal neuropathy, Short neck, Low posterior hairline,...	OMIM:115150
17Q11 Microdeletion Syndrome	Glioma, Neurofibrosarcoma, Abnormal choroid morphology, Brainstem glioma, Brain neoplasm, Leukemi...	ORPHA:97685
Doors Syndrome	Optic atrophy, Macrodontia of permanent maxillary central incisor, Capillary hemangioma, Sirenome...	ORPHA:79500
Johnson Neuroectodermal Syndrome	Severe short stature, Sparse hair, Alopecia, Carious teeth, Tetralogy of Fallot, Absent eyelashes...	ORPHA:2316
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of...	ORPHA:2905
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Hamartoma of tongue, Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular...	OMIM:217085
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Mitral regurgitat...	OMIM:143095
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Kabuki Syndrome 2	Highly arched eyebrow, Natal tooth, Dental malocclusion, Sparse lateral eyebrow, Atrioventricular...	OMIM:300867
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Facial telangiectasia, Contracture of the proximal interphalangeal joint of the...	OMIM:620141
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Macrocytic anemia, ...	OMIM:613309
Ververi-Brady Syndrome	Delayed skeletal maturation, Intrauterine growth retardation, Transposition of the great arteries...	OMIM:617982
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Ventriculomegaly, Retinal coloboma, Hamartoma of tongue, Occipital meningocele, Congenital diaphr...	OMIM:616546
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Micrognathia, Limited elbow movemen...	ORPHA:1826
Czeizel-Losonci Syndrome	Myelomeningocele, Micrognathia, Hypoplastic nipples, Thoracolumbar scoliosis, Spina bifida, Dextr...	ORPHA:2437
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, Umbilical hernia, Congenital diaphragmatic hernia, Polycysti...	ORPHA:284180
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia...	OMIM:613177
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na...	ORPHA:93315
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage	ORPHA:100006
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Accelerated skele...	ORPHA:380
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Mitral regurgitation, Neutropenia, Hep...	OMIM:612541
Trisomy 18	Iris coloboma, Microretrognathia, Delayed skeletal maturation, Camptodactyly of finger, Intrauter...	ORPHA:3380
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm...	OMIM:619313
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyop...	OMIM:212065
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Retrognathia, Aortic dissection, Arterial tortuosity, Dilatation of the cer...	OMIM:614816
Costello Syndrome	Micrognathia, Mitral valve prolapse, Ventricular septal defect, Limited elbow movement, Short nec...	OMIM:218040
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Abnormality of the spleen, Abnormality of the liver, Micro...	ORPHA:1834
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Cryptorchidism, Short stature, Prolonged bleeding time, Pulmonic ste...	ORPHA:638
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Trichohepatoenteric Syndrome 1	Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Curly hair, Hepatomegaly, Brit...	OMIM:222470
Spondylocostal Dysostosis 5	Severe short stature, Butterfly vertebrae, Low back pain, Short neck, Disproportionate short-trun...	OMIM:122600
Spondylocarpotarsal Synostosis Syndrome	Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of permanent teeth, Dela...	OMIM:272460
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Telangiectasia, Heman...	ORPHA:284227
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Leukemia, Postnatal growth retardation, Intrauterine growth retardation, Microg...	OMIM:257300
Metachondromatosis	Multiple digital exostoses, Abnormal joint morphology, Multiple enchondromatosis, Multiple exosto...	OMIM:156250
Diaphanospondylodysostosis	Myelomeningocele, Short neck, Abnormal vertebral segmentation and fusion, Absent or minimally oss...	ORPHA:66637
Aymé-Gripp Syndrome	Ventriculomegaly, Limitation of joint mobility, Delayed cranial suture closure, Postnatal growth ...	ORPHA:1272
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Situs inversus totalis, Dextrocardia, Goiter	OMIM:617577
Intellectual Developmental Disorder, X-Linked 112	Kyphosis, Abnormal heart morphology, Right aortic arch, Retinopathy, Cryptorchidism, Joint hyperm...	OMIM:301111
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Intracranial hemorrhage, Hypert...	ORPHA:403
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Delayed skeletal maturation, Ascites, Splenomegaly, Hepatomegaly, Short neck, Atrial se...	OMIM:608776
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect, Distichiasis, Varicose veins, Peripheral arterial s...	OMIM:126320
Cardiomyopathy, Familial Hypertrophic, 26	Atrioventricular block, Left anterior fascicular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Coffin-Siris Syndrome	Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, Agenesis of corpus callo...	ORPHA:1465
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Mitral stenosis, Agenesi...	OMIM:617260
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Delayed menarche, Bundle branch...	OMIM:151100
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Osteomyelitis, Abnormal sensory nerve conduction velocity, Axonal degener...	ORPHA:88628
Down Syndrome	Atlantoaxial dislocation, Secundum atrial septal defect, Leukemia, Delayed skeletal maturation, U...	ORPHA:870
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Intracranial hemorrhage, Hypert...	ORPHA:404
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar...	ORPHA:449400
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Intervertebral disk degeneration, Mitral regurgitation, Knee osteoarth...	ORPHA:284984
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid...	OMIM:614473
Recombinant 8 Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Abnormal hair morphology, Micrognathia, Patellar ap...	ORPHA:96167
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Joint dislocation, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhag...	ORPHA:25
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Aortic root aneurysm, Micrognathia, Ventricular septal defect, Cur...	ORPHA:444077
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Micrognathia, Joint hypermobility, Eosinophilia, Atrial septal defect, S...	OMIM:618282
Cornelia De Lange Syndrome 1	Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Low pos...	OMIM:122470
Milroy Disease	Neoplasm of the skin, Predominantly lower limb lymphedema, Ankle swelling, Abnormal venous morpho...	ORPHA:79452
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Tracheomalacia, Umbilical hernia, Supernumerary nipple, Co...	ORPHA:1001
Alagille Syndrome 2	Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis...	OMIM:610205
Neu-Laxova Syndrome 1	Joint contracture of the hand, Micrognathia, Cryptorchidism, Ventricular septal defect, Neonatal ...	OMIM:256520
Riddle Syndrome	Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage, Generalized lymphadenop...	ORPHA:420741
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Neoplasm, Pleural effusion, Po...	ORPHA:1041
Fanconi Anemia	Arteriovenous malformation, Micrognathia, Cryptorchidism, Atrial septal defect, Hip dislocation, ...	ORPHA:84
White-Sutton Syndrome	Optic atrophy, Iris coloboma, Abnormal heart morphology, Congenital diaphragmatic hernia, Joint h...	ORPHA:468678
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Highly arched eyebrow, Long eyelashes, Micrognathia, Thick eyebrow, Cryptorchidism, Ventricular s...	OMIM:610759
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Genu valgum, Lateral ventricle dilatation	ORPHA:488627
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Oligohydramnios, Adrenal gland agenesis, Congenital diaphragmati...	OMIM:611812
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Ventriculomegaly, Prominent metopic ridge, Joint hypermobility, Agenesis of ...	ORPHA:457284
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short n...	OMIM:118100
Tbck-Related Intellectual Disability Syndrome	Ventriculomegaly, Skeletal muscle atrophy, Delayed skeletal maturation, Decreased response to gro...	ORPHA:488632
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Micrognathia, Encephalocele, Cryptorchidism, Agenesis of corpus callos...	OMIM:619148
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Anomalous ...	ORPHA:99104
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Disproportionate short-limb short stature, Lateral ventr...	OMIM:619479
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Yellow nails, Kyphosis, Chylothorax, Lymphedema, Tetralogy o...	OMIM:153400
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Ankle swelling, Genital edema, Abnormal lympha...	ORPHA:568051
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Bacteria...	ORPHA:2072
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Hypoplasia of the maxilla, Delayed skeletal maturation, Umbilical hernia, ...	OMIM:608328
Cerebrofacioarticular Syndrome	Osteopenia, Hypoplasia of the maxilla, Ventriculomegaly, Caudal appendage, Tracheomalacia, Lymphe...	ORPHA:314679
Thymic Neuroendocrine Tumor	Osteopenia, Neuroendocrine neoplasm, Pituitary adenoma, Prominent veins on trunk, Increased circu...	ORPHA:97289
Diets-Jongmans Syndrome	Umbilical hernia, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular se...	OMIM:618846
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Vertebral segmentatio...	ORPHA:3109
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricula...	OMIM:619123
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Retinopathy, ...	ORPHA:743
Chromosome 16P13.3 Duplication Syndrome	Tetralogy of Fallot, Cervical C5/C6 vertebrae fusion, Micrognathia, Facial hypotonia, Cryptorchid...	OMIM:613458
Tarp Syndrome	Optic atrophy, Extramedullary hematopoiesis, Tetralogy of Fallot, Intrauterine growth retardation...	ORPHA:2886
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Congenital contracture, Retrognathia, Micrognathia, Agenesis of corpus callosum...	OMIM:620156
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Breast aplasia, Thin eyebrow, Complete atrioventricular can...	OMIM:617063
Congenital Enterovirus Infection	Ventriculomegaly, Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Abnormal bleeding, Cho...	ORPHA:292
Proteus-Like Syndrome	Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, S...	ORPHA:2969
Livedoid Vasculopathy	Polycythemia, Macular purpura, Pancytopenia, Ischemic stroke, Lower limb pain, Leukocytosis, Veno...	ORPHA:542643
Acys Amyloidosis	Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage	ORPHA:100008
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Joint hypermobility, Low posterior hair...	ORPHA:1520
Branchial Arch Syndrome, X-Linked	Short stature, Cryptorchidism, Pulmonic stenosis	OMIM:301950
Alg9-Cdg	Hypoplasia of the musculature, Delayed cranial suture closure, Micrognathia, Ventricular septal d...	ORPHA:79328
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Delayed skeletal maturation, Bruising susceptibility, Hypertrop...	OMIM:609942
Cutis Laxa, Autosomal Recessive, Type Ib	Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital diaphragmatic her...	OMIM:614437
Limb Body Wall Complex	Progressive congenital scoliosis, Iris coloboma, Abnormality of the vertebral column, Abnormal he...	ORPHA:2369
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Abnormality of peripheral nerve conduction, Testicular dys...	ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Limb hypertonia, Lower limb amyotrophy	ORPHA:401815
Smith-Lemli-Opitz Syndrome	Micrognathia, Facial capillary hemangioma, Cryptorchidism, Hepatic steatosis, Ventricular septal ...	OMIM:270400
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Neoplasm of the breast, Congestive heart failure, Neoplasm of the thy...	ORPHA:137608
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, Cryptorchidism, Hypopla...	ORPHA:3027
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Mitral regurgitation, Sparse...	OMIM:611174
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cerebral vasculitis, Osteomyelitis, Decreased proportion of CD...	OMIM:243700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Micrognathia, Short neck, Hyperlordosis, Short stature, Kyphosi...	ORPHA:2522
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	High anterior hairline, Subdural hemorrhage, Intrauterine growth retardation, Osteoarthritis, Sho...	OMIM:619714
Duane Retraction Syndrome	Skeletal muscle atrophy, Optic disc hypoplasia, Chorioretinal coloboma, Abnormal form of the vert...	ORPHA:233
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Microretrognathia, Retinal coloboma, Hamartoma of tongue, Bilateral cryp...	ORPHA:434179
Witteveen-Kolk Syndrome	Hyperplasia of the maxilla, Congenital diaphragmatic hernia, Iris coloboma, Delayed skeletal matu...	OMIM:613406
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Oligohydramnios, Choroid plexus cyst, Retrognathia	ORPHA:293725
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Cenani-Lenz Syndactyly Syndrome	Metacarpal synostosis, Micrognathia, Radioulnar synostosis, Enamel hypoplasia, Hemivertebrae, Sco...	OMIM:212780
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Hypoplasia of the maxilla, Genu valgum, Complete atrioventricular ...	OMIM:619142
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormality of the spleen, Cryptorchidism, Myopathy, Hepatic stea...	ORPHA:1606
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodact...	OMIM:617333
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Hypoplasia of the maxilla, Spinal canal stenosis, Joint stiffness, Lumbar ...	OMIM:277600
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi...	OMIM:620067
Peters-Plus Syndrome	Facial hypertrichosis, Postnatal growth retardation, Micrognathia, Cryptorchidism, Ventricular se...	OMIM:261540
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Short stature, Abnormal sacrum morphology, Scoliosis, Fused cervical vert...	ORPHA:1436
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Colpocephaly, Scoliosis	OMIM:618731
Ivic Syndrome	Carpal synostosis, Tetralogy of Fallot, Limited wrist movement, Leukocytosis, Hypoplasia of delto...	OMIM:147750
Atelis Syndrome 2	Kyphosis, Sacral dimple, Micrognathia, Vitreous hemorrhage, Remnants of the hyaloid vascular syst...	OMIM:620185
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Tachycardia, Shock, Palpitations, Pleural effusion, Ecchymosis, Anemia, Back pai...	ORPHA:340
Monosomy 13Q34	Hematochezia, Epistaxis, Horizontal eyebrow, Micrognathia, Hepatic steatosis, Agenesis of corpus ...	ORPHA:96168
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Micrognathia, Polyhydramnios, Flexion contracture, Scoliosis	OMIM:614098
Apert Syndrome	Optic atrophy, Hypoplasia of the maxilla, Ventriculomegaly, Delayed eruption of teeth, Cervical C...	ORPHA:87
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Simpson-Golabi-Behmel Syndrome, Type 1	Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,...	OMIM:312870
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner...	ORPHA:90650
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Micr...	ORPHA:846
Q Fever	Hepatosplenomegaly, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Abnormal vascular morphology...	ORPHA:781
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Joint stiffness, Short stature, Pulmonic stenosis	OMIM:614819
Tetrasomy 9P	Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Short neck, D...	ORPHA:3310
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Primary Intestinal Lymphangiectasia	Generalized edema, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Pleura...	ORPHA:90362
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro...	OMIM:617168
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Tetralogy of Fallot, Hamartoma of tongue, Micrognathia, Absent gallbladder, Complete...	OMIM:617925
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard...	OMIM:261740
Noonan Syndrome 1	Postnatal growth retardation, Micrognathia, Cryptorchidism, Ventricular septal defect, Synovitis,...	OMIM:163950
X-Linked Mandibulofacial Dysostosis	Hypoplasia of the zygomatic bone, Micrognathia, Branchial anomaly, Cryptorchidism, Abnormal mitra...	ORPHA:1131
Microphthalmia With Linear Skin Defects Syndrome	Micrognathia, Congenital diaphragmatic hernia, Mitral valve prolapse, Mitral regurgitation, Agene...	ORPHA:2556
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Fused cervical vertebrae	OMIM:309620
Restrictive Dermopathy	Natal tooth, Micrognathia, Large placenta, Decreased skull ossification, Atrial septal defect, De...	ORPHA:1662
Asparagine Synthetase Deficiency	Ventriculomegaly, Optic nerve hypoplasia, Dilated third ventricle, Intrauterine growth retardatio...	OMIM:615574
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Micrognathia, Genu valgum, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect...	ORPHA:363700
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Transient neutropenia, Nephroblastoma, Mitral valve prolapse, Ventricular septa...	OMIM:617107
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Conotruncal defect, Cryptorchidism, Macroglossia, Trac...	OMIM:610253
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Sparse scalp hair, Postnatal growth retardation, Congenital diap...	OMIM:135900
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Hepatic steatosis, Mitral regurgitation, Premature arteriosclerosis, Optic ...	ORPHA:391665
Microphthalmia With Limb Anomalies	Synostosis of joints, Optic atrophy, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Syn...	ORPHA:1106
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid...	OMIM:613834
Intellectual Developmental Disorder, Autosomal Dominant 52	Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Low anterior hairline, Lumbar sco...	OMIM:617796
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Ventriculomegaly, Delayed eruption of teeth, Chorioretinal ...	OMIM:235730
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Abnormality of the hairline, Congenital diaphragmatic hernia, Sparse eyelashes, H...	ORPHA:370079
Acrocallosal Syndrome	Wide anterior fontanel, Cryptorchidism, Congenital diaphragmatic hernia, Dandy-Walker malformation	ORPHA:36
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Highly arched eyebrow, Retrognathia, Elbow dislocation, Knee dislocation, Talipes val...	OMIM:620083
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aganglion...	ORPHA:2473
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:26793
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus, Ectopia cord...	OMIM:313850
Pallister-Hall Syndrome	Hip dislocation, Natal tooth, Decreased response to growth hormone stimulation test, Panhypopitui...	OMIM:146510
Trisomy 8P	Peripheral pulmonary artery stenosis, Annular pancreas, Retrognathia, Tetralogy of Fallot, Sacral...	ORPHA:264450
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Hypoplasia of the maxilla, Block vertebrae, Occipital encephalo...	OMIM:164210
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Highly arched eyebrow, Retrognathia, Intrauterine growth retardation, Contracture of the proximal...	OMIM:301044
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Poland Syndrome	Acute leukemia, Kyphosis, Abnormality of the liver, Reduced bone mineral density, Encephalocele, ...	ORPHA:2911
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short stature, Cervical C2/C3 vertebral fusion, Upper limb muscle weakness	ORPHA:370010
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Ventriculomegaly, Alopecia, Congenital diaphragmatic hernia, Cryptorc...	ORPHA:1647
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Gastrointestinal carcinoma, Hematochezia, Aortic dissection, Mitral regurgitation, Mit...	OMIM:175050
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Williams Syndrome	Synostosis of joints, Carious teeth, Micrognathia, Genu valgum, Cryptorchidism, Mitral valve prol...	ORPHA:904
Orofaciodigital Syndrome Type 5	Tetralogy of Fallot, Agenesis of corpus callosum, Aganglionic megacolon, Enamel hypoplasia, Super...	ORPHA:2919
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelopathy, Lower limb muscle weakness, Venous malformation, Distal lower li...	ORPHA:79093
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e...	ORPHA:199241
Hypermobile Ehlers-Danlos Syndrome	Aortic root aneurysm, Limitation of joint mobility, Elbow dislocation, Mitral valve prolapse, Arr...	ORPHA:285
13Q12.3 Microdeletion Syndrome	Intrauterine growth retardation, Upper eyelid edema, Congenital diaphragmatic hernia, Cryptorchid...	ORPHA:412035
Hydrolethalus Syndrome 1	Accessory spleen, Intrauterine growth retardation, Micrognathia, Complete atrioventricular canal ...	OMIM:236680
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Alopecia, Supernumerary nipple, ...	OMIM:100300
Hennekam Syndrome	Arteriovenous malformation, Delayed eruption of teeth, Retrognathia, Camptodactyly of finger, Lym...	ORPHA:2136
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Polycystic ovaries, Hirsutism, Accelerated skeletal maturation, Short stature, Intracra...	ORPHA:90795
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Tracheomalacia, Abnormal heart morphology, Tetralogy of Fal...	ORPHA:95430
17Q24.2 Microdeletion Syndrome	Abnormality of the ankle, Otosclerosis, Abnormality of the wrist, Micrognathia, Thick eyebrow, Cu...	ORPHA:529962
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Mitral valve prolapse, Nephroblastoma, Paroxysma...	ORPHA:137605
Pmm2-Cdg	Increased circulating prolactin concentration, Aplasia of the ovary, Impaired neutrophil chemotax...	ORPHA:79318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Osteopenia, High anterior hairline, Retrognathia, Inc...	ORPHA:438213
Angioosteohypotrophic Syndrome	Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema	ORPHA:75508
Beckwith-Wiedemann Syndrome	Large placenta, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Po...	ORPHA:116
Brittle Cornea Syndrome	Bruising susceptibility, Increased susceptibility to fractures, Mitral valve prolapse, Joint hype...	ORPHA:90354
Acute Transverse Myelitis	Upper limb muscle weakness, Autonomic bladder dysfunction, Distal lower limb muscle weakness, Sub...	ORPHA:139417
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Intrauterine growth retardation...	OMIM:615846
Acro-Renal-Mandibular Syndrome	Kyphosis, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, Micrognathia, Butter...	ORPHA:958
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Cryptorchidism, Hydrocephalus, Short stature, Flexion ...	ORPHA:500055
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Micrognathia, Congenital diaphragmatic hernia, Atrial septal defect, Polyhydramnios, Hydrocele te...	OMIM:614080
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Genu valgum, Hypophosphatemic rickets, Short stature,...	OMIM:613312
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Neoplasm of the adrenal gland,...	ORPHA:231625
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Ventricular septal defect, Atrial septal d...	OMIM:616268
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology...	ORPHA:60015
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia...	OMIM:219100
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Abnormal right ventricle morphology, Retinal coloboma, Transient neutropenia, Mitra...	ORPHA:500095
Renpenning Syndrome 1	Sparse hair, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with ...	OMIM:309500
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Gaucher Disease Type 3	Aortic valve calcification, Delayed skeletal maturation, Abnormal heart valve morphology, Pancyto...	ORPHA:77261
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Decreased skull ossification	ORPHA:2141
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Micrognathia, Complete atrioventricular canal defect, Scoliosis, Kyphosis, Syno...	ORPHA:476126
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Lateral ventricle dilatation	OMIM:619278
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Conotruncal defect, Hydrocephalus	OMIM:243440
Neurofibromatosis-Noonan Syndrome	Neurofibroma, Secundum atrial septal defect, Cryptorchidism, Plexiform neurofibroma, Lisch nodule...	OMIM:601321
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Pigmentary retinopathy, Hepatic failure, Elevated circulati...	OMIM:118450
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Tricuspid regurgitation, Leukocytosis, Pleural effusio...	OMIM:620233
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Fused cervical vertebrae	ORPHA:238722
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Atelosteogenesis, Type I	Rhizomelia, Disproportionate short-limb short stature, Elbow dislocation, Stillbirth, Knee disloc...	OMIM:108720
Pseudoaminopterin Syndrome	Highly arched eyebrow, Synostosis of carpal bones, Sacrococcygeal pilonidal abnormality, Talipes ...	ORPHA:221120
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Loose anagen hair, Sparse scalp hair, Hypertrophic cardiomyopathy, Long eye...	OMIM:607721
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Colpocephaly, Ventriculomegaly, Agenesis of corpus callosum	OMIM:620352
Lymphangioleiomyomatosis	Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ungual fibroma, Ascites, Pul...	ORPHA:538
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Pulmonic stenosis	OMIM:264140
Proteus Syndrome	Rib exostoses, Carious teeth, Arteriovenous malformation, Decreased muscle mass, Chorioretinal co...	ORPHA:744
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Xerostomia, Abnormality of somatosensory evoked potentials	ORPHA:353253
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Scoliosis, Pulmonic stenosis	OMIM:617600
Fibrodysplasia Ossificans Progressiva	Alopecia, Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive c...	OMIM:135100
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventriculomegaly, Tracheomalacia, Hyperplasia of the maxilla, Sparse lateral eyebrow, Micrognathi...	ORPHA:513456
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Chédiak-Higashi Syndrome	Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Dec...	ORPHA:167
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Arteriovenous malformation, Stomach cancer, Juvenile gastrointestinal...	ORPHA:2929
Cornelia De Lange Syndrome	Elbow dislocation, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular sep...	ORPHA:199
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Cebalid Syndrome	Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia	OMIM:618774
Kbg Syndrome	Delayed skeletal maturation, Thick eyebrow, Cryptorchidism, Low anterior hairline, Low posterior ...	OMIM:148050
Genitopatellar Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Micrognathia, Patellar aplasia, Hip contra...	OMIM:606170
Focal Dermal Hypoplasia	Chorioretinal coloboma, Supernumerary nipple, Laryngeal papilloma, Congenital diaphragmatic herni...	OMIM:305600
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint...	OMIM:151200
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Abnormal optic nerve morphology, Lymphoma, Colon cancer,...	ORPHA:449563
Carpenter Syndrome 2	Carious teeth, Supernumerary nipple, Cryptorchidism, Short neck, Atrial septal defect, Dextrocard...	OMIM:614976
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Cryptorchidism, Proportionate short stature, Hyperextensible hand joints, Tr...	OMIM:227330
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100078
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Sparse eyebr...	ORPHA:306542
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Abnormal heart morphology, Oligohydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Vasc...	OMIM:617641
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Osteomy...	ORPHA:70591
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Decreased skull ossification, Congenital diaphragmatic hernia, Testicular atrophy, Abnormality of...	OMIM:601163
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, High anterior hairline, Supernumerary nipple, Hypertrichosis, Cryptorchidism, Pat...	ORPHA:477993
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Joint swelling, Splenomegaly, Neutrophilia, Hepatomegaly, Osteolysis, ...	OMIM:612852
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se...	OMIM:618748
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short stature, Lateral ventricle dilatation, Thick eyebrow, Short umbilical cord	OMIM:618367
Craniofrontonasal Syndrome	Axillary pterygium, Coronal craniosynostosis, Umbilical hernia, Breast hypoplasia, Congenital dia...	OMIM:304110
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Micrognathia, Congenital diaphragmatic hernia, Macrocytic anemia, Low posterior h...	OMIM:606164
Pallister-Killian Syndrome	Aortic valve stenosis, Delayed cranial suture closure, Supernumerary nipple, Micrognathia, Congen...	OMIM:601803
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Tetralogy of Fallot, Postnatal growth ret...	OMIM:192350
Williams-Beuren Syndrome	Premature graying of hair, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect...	OMIM:194050
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Cholestasis, Genu valgum, Jau...	ORPHA:198
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the wrist, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Multiple...	ORPHA:2063
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Short neck, Hemivertebrae, Vertebral f...	OMIM:271520
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Anasarca, Ascites, Micrognathia, Pleural effusion, Cryptorchidism, Polyhydramnios, ...	OMIM:618183
Clapo Syndrome	Lymphedema, Capillary hemangioma, Venous malformation, Ganglioneuroma, Varicose veins	ORPHA:168984
Gitelman Syndrome	Chondrocalcinosis, Prominent U wave, Abnormal T-wave, Palpitations, Gout, Rhabdomyolysis, ST segm...	ORPHA:358
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Venous malformation, Splenomegaly, Nephroblastoma, Lipoma, Scoliosis	OMIM:612918
Iniencephaly	Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Absent vertebra, Myelomeningoc...	ORPHA:63259
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat...	OMIM:600460
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormal venous morphology, Nephroblastoma, Multiple lipom...	ORPHA:276280
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Anomalous origin of left pulmonary artery from ascending a...	ORPHA:141127
Schisis Association	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Acrorenal-Mandibular Syndrome	Absent nipple, Abnormal sacral segmentation, Elbow flexion contracture, Intrauterine growth retar...	OMIM:200980
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Short sta...	ORPHA:250999
You-Hoover-Fong Syndrome	Double aortic arch, Coarctation of aorta, Vascular ring, Kyphoscoliosis	OMIM:616954
Vascular Ehlers-Danlos Syndrome	Carious teeth, Cryptorchidism, Mitral valve prolapse, Pulmonary artery aneurysm, Arteriovenous fi...	ORPHA:286
Pitt-Hopkins-Like Syndrome 2	Scoliosis, Pulmonic stenosis	OMIM:614325
Mowat-Wilson Syndrome	Aortic valve stenosis, Genu valgum, Cryptorchidism, Agenesis of corpus callosum, Bicuspid aortic ...	ORPHA:2152
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Mitral valve prolapse, Finger joint hypermobility, Diffuse alveolar hemorrhage, D...	OMIM:130050
Sarcoidosis, Susceptibility To, 1	Mediastinal lymphadenopathy, Enlarged lacrimal glands, Pancytopenia, Pleural effusion, Chorioreti...	OMIM:181000
Stapes Ankylosis With Broad Thumbs And Toes	Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae	OMIM:184460
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal stromal edema	ORPHA:137596
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Predominantly lower limb lymphedema, Dilated third ventricle	ORPHA:314404
Watson Syndrome	Short stature, Lisch nodules, Neurofibroma, Pulmonic stenosis	OMIM:193520
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ...	ORPHA:402075
Elsahy-Waters Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Bilateral cryptorchidi...	OMIM:211380
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Cavernous hemangioma of the face, Coarctation of aorta, Right aortic arch	OMIM:140850
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Muscular dystrophy, Ventriculomegaly, Occipital encephalocele, Retinal dysplasia, Hydromyelia, De...	OMIM:615287
Matthew-Wood Syndrome	Annular pancreas, Intrauterine growth retardation, Congenital diaphragmatic hernia, Cryptorchidis...	ORPHA:2470
Monosomy 9P	Highly arched eyebrow, Limitation of joint mobility, Abnormality of the vertebral column, Microgn...	ORPHA:261112
Ataxia-Telangiectasia-Like Disorder 2	Absent pubertal growth spurt, Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjunct...	OMIM:615919
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Norrie Disease	Optic atrophy, Cryptorchidism, Venous insufficiency, Abnormal vitreous humor morphology, Neoplasm...	ORPHA:649
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Thrombocytopenia, Trismus, Anemia, Double aortic arch	OMIM:230900
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Epiphyseal stippling, Ventricu...	OMIM:245150
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Lymphedema, Venous malformation, Varicose veins	OMIM:613089
Denys-Drash Syndrome	Ovarian gonadoblastoma, Congenital diaphragmatic hernia, Nephroblastoma, Neonatal death, Hyperten...	OMIM:194080
C Syndrome	Limitation of joint mobility, Joint dislocation, Micrognathia, Midline facial capillary hemangiom...	ORPHA:1308
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Cryptorchidism	ORPHA:95706
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Micrognathia, Joint hypermobility, Low anterior hairline, Colpocephaly, Sh...	ORPHA:75857
Genitourinary And/Or Brain Malformation Syndrome	Joint stiffness, Micrognathia, Streak ovary, Cryptorchidism, Kyphoscoliosis, Agenesis of corpus c...	OMIM:618820
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia, Retrognathia	OMIM:618022
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic...	ORPHA:63260
Glomuvenous Malformation	Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation	ORPHA:83454
Tetraamelia Syndrome 1	Micrognathia, Adrenal gland agenesis, Congenital diaphragmatic hernia, Hydrocephalus, Asplenia	OMIM:273395
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ssr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ssr2.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Defects in placental syncytiotrophoblast cells are a common cause of developmental heart disease.	Nature communications (March 2023)	Ssr2^{tm1c(EUCOMM)Wtsi} Ssr2^{tm1a(EUCOMM)Wtsi} Ssr2^{tm1d(EUCOMM)Wtsi} Ssr2^{tm1b(EUCOMM)Wtsi}	PMC9978031
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ssr2^{tm1b(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Ssr2^{tm1b(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ssr2^{tm1b(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ssr2^{tm1b(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ssr2^{tm1b(EUCOMM)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Ssr2^{tm1b(EUCOMM)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
Ssr2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ssr2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ssr2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ssr2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ssr2 MGI:1913506

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

DSS Histology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Ssr2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data