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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

Select physiological systems to view:

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 Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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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 Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

View images

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 (994 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	Branchial cyst, Vertebral fusion, Joint laxity, Short stature, Ventricular septal defect, Optic n...	OMIM:615583
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Emanuel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ...	OMIM:609029
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, ...	OMIM:182410
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu...	ORPHA:36382
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Micrognathia, Postnatal growth retardation, Cryptorchidism, Patent duc...	OMIM:179613
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Decreased response to growth hormone stimulation test, Micrognathia, H...	OMIM:220210
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgn...	ORPHA:96170
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Micrognathia, Short neck, Joint stiffness, Abnormal aortic morphology,...	ORPHA:2516
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener...	ORPHA:508498
Stankiewicz-Isidor Syndrome	Sacral dimple, Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus,...	OMIM:617516
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Chol...	OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Cryptorchidism, Myopathy, Lateral ventricle dilatation, Increased vari...	OMIM:616816
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Short stature, Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilate...	ORPHA:280679
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia	OMIM:619170
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Atrial septal defect, Limited elbow extension and supination, Ventricular septal de...	ORPHA:401935
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Highly arched eyebrow, Short neck, Sparse me...	OMIM:618804
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Highly ...	OMIM:617751
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular septal defec...	OMIM:620135
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Intracranial hemorrhage, Abnormal peripheral nervo...	ORPHA:464321
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Short stature, Patent ductus arteriosus, Lateral ventricle dilatation,...	OMIM:618330
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Diaphragmatic eventration, N...	OMIM:601186
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short stature, Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevat...	OMIM:300845
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, At...	ORPHA:371428
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ...	OMIM:618291
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short stature, Delayed skeletal maturation, Synophrys, Spina bifida occulta, Anterior...	OMIM:617877
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Growth delay, Hypoplastic left heart, Transposition of t...	ORPHA:1727
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Abnormal left ventricular function, Leukopenia, Pulmonary artery atresia, Agenesi...	OMIM:301056
Snijders Blok-Campeau Syndrome	Joint laxity, Perimembranous ventricular septal defect, Taurodontia, Pulmonic stenosis, Scoliosis...	OMIM:618205
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atrophy, Hip dislocatio...	OMIM:618651
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Carious teeth, Dysplastic corpus callosum, Patent ductus arteriosus, Muscula...	ORPHA:363444
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Truncus arteriosus, Short stature, Highly arched eyebrow	OMIM:611867
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide...	OMIM:616920
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Anomalous origin of left coronary artery ...	OMIM:618845
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Micrognathia, Atrial sep...	OMIM:265380
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Sparse eyelashes, Polyhydramnios, Micrognathia, Pericardial effusion, Carious teet...	OMIM:620070
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Micrognathia, Op...	ORPHA:3078
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hyd...	ORPHA:97339
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Secundum atri...	OMIM:617397
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Ventricular septal defect, Short stature, Dextrotransposition of the great arterie...	OMIM:619995
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Loeys-Dietz Syndrome 1	Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,...	OMIM:609192
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Joint laxity, Overriding aorta, Bicuspid ...	ORPHA:477817
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Portal hypertension, ...	OMIM:619487
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Sotos Syndrome	Mandibular prognathia, Joint laxity, Ventricular septal defect, Accelerated skeletal maturation, ...	OMIM:117550
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Diaphragmatic eventration, Bilateral crypto...	ORPHA:66634
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch	OMIM:107550
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Slc35A2-Cdg	Elevated hepatic transaminase, Osteopenia, Limb joint contracture, Short stature, Camptodactyly o...	ORPHA:356961
Alg12-Cdg	Edema, Polyhydramnios, Micrognathia, Abnormal peripheral nervous system morphology, Abnormal bone...	ORPHA:79324
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Small thenar eminence, Lateral ventricle dila...	OMIM:618914
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Cach Syndrome	T2 hypointense thalamus, Flexion contracture, Optic atrophy, Hepatosplenomegaly, Growth delay, La...	ORPHA:135
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Short stature, Ventricular septal defect, Double outlet right ve...	ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy...	OMIM:600001
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial agenesis of the corpus callosum, Partial anomalous pulmonary v...	OMIM:617478
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress...	ORPHA:268882
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Ventriculomegaly, Vertebral fusion, Facial palsy, Elbow contracture, Hyp...	OMIM:606612
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Short stature, Congenital diaphragmatic hernia, Highl...	OMIM:300887
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial s...	ORPHA:2255
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short stature, Ventricular septal defect, Highly arched eyebrow, Secu...	OMIM:600987
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Leukocytosis...	ORPHA:90065
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A...	ORPHA:331
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Cholest...	OMIM:615415
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Peters Plus Syndrome	Polyhydramnios, Micrognathia, Short neck, Bicuspid pulmonary valve, Abnormal pulmonary vein morph...	ORPHA:709
Moderate Hemophilia A	Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Arthropathy...	ORPHA:169805
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Short neck, Abnormal aortic arch morphology, Hypoplasia of the thym...	ORPHA:567
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Partial agenesis of the corpus callosum, Flexion contracture, Lateral ...	ORPHA:79243
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contra...	OMIM:180849
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ...	OMIM:306955
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognat...	ORPHA:536545
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Low ant...	OMIM:601808
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Micrognathia, Joint st...	ORPHA:1166
Cerebral Cavernous Malformations	Intracranial hemorrhage, Retinal vascular malformation, Hepatic vascular malformations, Cerebral ...	OMIM:116860
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Medial flaring of the eyebrow, Tricuspid regurgitation, Sparse eyel...	OMIM:612863
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfe...	OMIM:608779
Mosaic Trisomy 1	Microretrognathia, Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Camptodactyly...	ORPHA:1692
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Distal amyotrop...	OMIM:256850
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Morning glory anomaly, Highly arched eyebrow, Hydroceph...	OMIM:614424
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Iris c...	ORPHA:2185
Hydranencephaly	Ventriculomegaly, Stiff neck, Optic nerve hypoplasia, Abnormal internal carotid artery morphology...	ORPHA:2177
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Atrial septal defect, Ventricular septal defect, Parachute mitral valve, Highly ...	OMIM:618316
Acrocardiofacial Syndrome	Joint dislocation, Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Cryptorch...	ORPHA:2008
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Birk-Aharoni Syndrome	Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Thick eyebrow	OMIM:620071
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart f...	ORPHA:94080
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Abnormality of the elb...	ORPHA:98878
Charge Syndrome	Polyhydramnios, Aqueductal stenosis, Hemivertebrae, Abnormality of bone mineral density, Choriore...	ORPHA:138
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Coarctat...	OMIM:618164
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
1Q21.1 Microdeletion Syndrome	Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Joint hyperflexibility, A...	ORPHA:250989
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Encephalocraniocutaneous Lipomatosis	Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology, Visceral angiomatosis, Os...	ORPHA:2396
Noonan Syndrome 14	Aortic regurgitation, Lymphopenia, Scapular winging, Curly hair, Short stature, Polyhydramnios, S...	OMIM:619745
Chromosome 9P Deletion Syndrome	Fair hair, Ventricular septal defect, Highly arched eyebrow, Micrognathia, Short neck, Patent duc...	OMIM:158170
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Delayed closure of th...	OMIM:614886
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Bicuspid aortic valve, Short stature, Ventricular septal...	OMIM:130720
Velocardiofacial Syndrome	Retinal vascular tortuosity, Hypoparathyroidism, Short stature, Ventricular septal defect, Crypto...	OMIM:192430
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Bicoronal synostosis, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Low ant...	OMIM:618736
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Houge-Janssens Syndrome 3	Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Ventriculomegaly	OMIM:618354
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun...	ORPHA:136
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Skeletal muscle atrophy, Thoracic scoliosis, Cerebral hemorrhage, Abnormal...	OMIM:620278
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocard...	OMIM:618280
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363958
Pontocerebellar Hypoplasia, Type 12	Joint contracture, Micrognathia, Polyhydramnios, Lateral ventricle dilatation	OMIM:618266
Distal Deletion 10Q	Scapular winging, Lumbar hyperlordosis, Short stature, Prominent metopic ridge, Craniosynostosis,...	ORPHA:96148
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Short neck, Partial agenesis of the corpus callosum, Flexion contracture, Delayed e...	OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Decreased response to growth horm...	OMIM:619503
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Shor...	ORPHA:508488
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Short stature, Muscular ventricular septal defect, Hydrocele testis, Notched p...	OMIM:620062
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Sparse scalp hair, Ventricular septal defect, Sparse eyebrow, Kyphosis, Re...	ORPHA:464738
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Congenital hip dislocation, Bicuspid aortic valve, Ventricular s...	ORPHA:457279
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Micrognathia, Frontal hirsutism, Cryptorchidism, Patent ductus arteriosus, Pulm...	ORPHA:3304
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Gillespie Syndrome	Aniridia, Truncus arteriosus, Ventriculomegaly	OMIM:206700
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Branchial fistula, Short stature, Camptodactyly of finger, Ventricular sept...	ORPHA:261330
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Adams-Oliver Syndrome 2	Alopecia, Micrognathia, Hydrocephalus, Optic atrophy, Low anterior hairline, Limb hypertonia, Lat...	OMIM:614219
3C Syndrome	Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology, Chorioretinal colob...	ORPHA:7
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Micrognathia, Short neck, Craniosynostosis, Kn...	ORPHA:284417
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Elevated circulating aspartate ami...	OMIM:608836
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Wide an...	OMIM:113000
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Rhizomelia, Short stature, Kyphoscoliosis, Micrognathia, Postnata...	OMIM:611209
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Kyphoscoliosis, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Lat...	OMIM:620075
Pontocerebellar Hypoplasia, Type 1A	Spinal muscular atrophy, Degeneration of anterior horn cells, Congenital contracture, Distal amyo...	OMIM:607596
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Short stat...	OMIM:613686
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopath...	OMIM:608629
Primary Ciliary Dyskinesia	Ventriculomegaly, Atrial situs ambiguous, Abnormal atrial arrangement, Asplenia, Situs inversus t...	ORPHA:244
Monosomy 18Q	Mandibular prognathia, Astrocytoma, Secundum atrial septal defect, Bilateral cryptorchidism, Low ...	ORPHA:1600
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp...	ORPHA:53719
Gabriele-De Vries Syndrome	Facial hypotonia, Aortopulmonary collateral arteries, Micrognathia, Sparse eyebrow, Cryptorchidis...	OMIM:617557
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosi...	OMIM:249670
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Edema, Myocardial infarction, Cardiogenic shock, Angio...	ORPHA:449285
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Ventricular septal defect, Kyphoscoliosis, Postnatal growth retardation, C...	OMIM:301040
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Joint laxity, Short stature, Ventricular septal defect, Congenital diaphragmat...	OMIM:157800
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Cyclopia, Micrognathia,...	OMIM:301043
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Microgna...	OMIM:312150
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, Distal joint laxity, Ge...	ORPHA:1900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Short stature, Ventricular septal de...	ORPHA:163979
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Congenital foot contractu...	ORPHA:565624
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Curly eyelashes, Low ...	OMIM:301022
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Patent foramen ovale, Paten...	ORPHA:17
Koolen-De Vries Syndrome	Bicuspid aortic valve, Atrial septal defect, Vertebral fusion, Prominent metopic ridge, Short sta...	OMIM:610443
Mungan Syndrome	Tricuspid regurgitation, Barrett esophagus, Perimembranous ventricular septal defect, Pulmonic st...	OMIM:611376
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Short stature, Decreased response to growth hormone stimulation test, Aplasia...	OMIM:618223
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Highly arched eyebrow, Cervical C2/C3 vertebral fusion, Acceler...	OMIM:617190
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Muscular ventricular septal defect, Retrognathia, Low posterior hairline, Fused ce...	OMIM:619227
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ...	OMIM:620300
Fumarase Deficiency	Polyhydramnios, Intrahepatic cholestasis, Optic atrophy, Choroid plexus cyst, Ascites, Cutaneous ...	OMIM:606812
Yuan-Harel-Lupski Syndrome	Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction veloci...	OMIM:616652
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pa...	ORPHA:1120
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Microgna...	OMIM:253290
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Sparse hair, Microretrognathia, Scapular winging, Short s...	OMIM:278250
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Lateral ventricle dilatation, Dilation of Virchow-Robin spac...	OMIM:619517
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage, Pedal edema	ORPHA:84090
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short stature, Abnormal hair pattern, Shor...	ORPHA:2332
Down Syndrome	Joint laxity, Short stature, Ventricular septal defect, Aganglionic megacolon, Atrioventricular c...	OMIM:190685
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc...	OMIM:618886
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Abnormality of the pancreas, Hydrocephalus, Aplasia/Hypo...	ORPHA:1926
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Accelerated skeletal maturation, Low posterior hairline...	ORPHA:420179
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic...	ORPHA:99094
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Atrial septal defect, Spina bifida occulta, ...	OMIM:201000
Martsolf Syndrome 2	Lateral ventricle dilatation, Short stature, Camptodactyly of finger, Camptodactyly	OMIM:619420
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl...	ORPHA:210122
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A...	OMIM:607155
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Short stature, Sparse eyebrow, Patent ductus arterio...	OMIM:619869
Noonan Syndrome 12	Lymphopenia, Ventricular septal defect, Decreased response to growth hormone stimulation test, Po...	OMIM:618624
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Brui...	ORPHA:99828
Benign Schwannoma	Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera...	ORPHA:252164
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Torticollis, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Micrognath...	ORPHA:300570
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperte...	ORPHA:29072
Weaver Syndrome	Mandibular prognathia, Dysharmonic bone age, Diastasis recti, Accelerated skeletal maturation, Cr...	OMIM:277590
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Lymphedema, Micrognathia, Intracranial h...	ORPHA:109
Brain Small Vessel Disease 2	Intracranial hemorrhage, Growth delay, Ventriculomegaly	OMIM:614483
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Micrognathia, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation	OMIM:600721
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral...	ORPHA:276621
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Thick eyebrow, Ventricular septal defect, Joint hypermobility, Carious...	OMIM:619229
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Polyhydramnios, I...	OMIM:613603
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Short stature, Ventricular septal defect, Dextrocardia, Asplenia, Paten...	OMIM:619657
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hydrops...	ORPHA:85212
Craniofacioskeletal Syndrome	Absent gallbladder, Short stature, Ventricular septal defect, Micrognathia, Cryptorchidism, Paten...	OMIM:300712
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, ...	OMIM:603387
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture, Low poster...	OMIM:616549
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding	ORPHA:98880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Dilated third ve...	OMIM:613154
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Perlman Syndrome	Renal hamartoma, Congenital diaphragmatic hernia, Edema, Polyhydramnios, Hypoplasia of the abdomi...	OMIM:267000
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Short stature, Optic nerve hypo...	OMIM:206900
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Po...	ORPHA:363705
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Optic nerve hypoplasia, Decreased response to growth ho...	OMIM:609053
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Polyhydramnios	OMIM:215550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Retinal detachment, Spinal rigidity, Hydrocephalus, Flexi...	OMIM:253800
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Pseudopapilledema, Stroke	ORPHA:140989
Aicardi Syndrome	Chorioretinal lacunae, Partial agenesis of the corpus callosum, Hemivertebrae, Hepatoblastoma, Di...	OMIM:304050
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Cranial nerve compression, Schwannoma, Jaw claudication, Abnor...	ORPHA:221098
Sarcosinemia	Hypertrophic cardiomyopathy, Optic atrophy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Giant Cell Arteritis	Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Joint stiffness, Mediastinal lymphadenop...	ORPHA:397
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Dehy...	ORPHA:1667
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
8P23.1 Duplication Syndrome	Ventricular septal defect, Highly arched eyebrow, Pulmonic stenosis, Tetralogy of Fallot, Exostoses	ORPHA:251076
Microphthalmia, Syndromic 2	Flexion contracture, Laterally curved eyebrow, Atrial septal defect, Contracture of the proximal ...	OMIM:300166
Tarp Syndrome	Micrognathia, Subdural hemorrhage, Optic atrophy, Neonatal death, Hepatic failure, Atrial septal ...	OMIM:311900
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Thrombocytopenia, Cardiomyopathy, Lateral ventricle dilatation, General...	ORPHA:572798
Meningioma	Back pain, Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Upper...	ORPHA:2495
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Reduc...	ORPHA:79284
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Synophrys, Atrial septal ...	OMIM:612474
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Short stature, Elbow contracture, Ventricular septal defect, S...	OMIM:178110
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Prolonged bleeding time, Lymphedema, Abnormal neutrophil count, Splenomegaly, Leuko...	ORPHA:3226
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Scoliosis, Dysplastic pulmonary valve, Ventriculomegaly	OMIM:300958
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Occipital encephalocele, Ventriculomegaly, Small cervical vertebra...	ORPHA:397715
Alg2-Cdg	Hepatomegaly, Lateral ventricle dilatation, Iris coloboma	ORPHA:79326
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephal...	OMIM:614846
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Craniosynostosis 6	Bicoronal synostosis, Delayed cranial suture closure, Craniosynostosis, Low anterior hairline, La...	OMIM:616602
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Short stature, Camptodactyly of finger, Short neck, ...	ORPHA:263487
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A...	ORPHA:177907
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Myelomeningocele, Hypoplasti...	ORPHA:2876
Frank-Ter Haar Syndrome	Osteopenia, Wormian bones, Ventricular septal defect, Anterior concavity of thoracic vertebrae, K...	OMIM:249420
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Thick eyebrow, Short stature, Central diaphragmatic hernia, Dela...	OMIM:614608
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia	OMIM:618890
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist...	ORPHA:90308
Propionic Acidemia	Hepatomegaly, Pancytopenia, Short stature, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis,...	OMIM:606054
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, Synophrys, Transposition of the great arteries, Scoliosi...	ORPHA:1913
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Short stature, Anomalous origin of left coronary artery from th...	ORPHA:2326
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal form of the vertebral bodies, Papilloma, Ecchymosis, Abnormality of...	ORPHA:464329
Weiss-Kruszka Syndrome	Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow,...	OMIM:618619
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Scoliosis	ORPHA:306669
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,...	OMIM:614779
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Intraven...	OMIM:616507
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Curly hair, Short stature, Optic nerve hypoplasia, Polyhydramnios, ...	OMIM:615280
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Polyhydramnios, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lower limb hypert...	OMIM:617296
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Mitral regurgitat...	ORPHA:313892
Glutamine Deficiency, Congenital	Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Camptodactyly...	OMIM:610015
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Dilation of Virchow-Robin spaces, Alopecia, Sparse eyelashes, Poly...	ORPHA:544488
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Synophrys, Atrial septal defect, Agenesis of corpus callosum, Patent foram...	OMIM:607872
Fryns Syndrome	Ventriculomegaly, Aganglionic megacolon, Congenital diaphragmatic hernia, Polyhydramnios, Microgn...	ORPHA:2059
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, ...	OMIM:619534
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Peripheral axonal neuropathy, Lymphedema, Generalized limb muscle atroph...	ORPHA:2822
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Axonal loss, Peripheral demyelination, Lateral ventricle dilatation	OMIM:221770
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Meningocele, Intracranial hemorrhage, Melanoma, Neoplasm, Ch...	ORPHA:2481
16P13.11 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Joint hyperflexibility, Transp...	ORPHA:261243
Noonan Syndrome 8	Atrial septal defect, Curly hair, Short stature, Ventricular septal defect, Polyhydramnios, Short...	OMIM:615355
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,...	DECIPHER:39
Distal 7Q11.23 Microduplication Syndrome	Benign neoplasm of the central nervous system, Congenital diaphragmatic hernia, Cryptorchidism, P...	ORPHA:261102
Digeorge Syndrome	Micrognathia, Parathyroid hypoplasia, Hypoplasia of the thymus, Hepatic steatosis, Short stature,...	OMIM:188400
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Distal Triplication 15Q	Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Flex...	ORPHA:314588
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Femoral-Facial Syndrome	Ventricular septal defect, Short stature, Limited elbow movement, Micrognathia, Cryptorchidism, A...	OMIM:134780
Microphthalmia, Syndromic 12	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Hypopla...	OMIM:615524
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Polyhydramnios, Micrognathia, Short neck, Microvesicular hepatic s...	OMIM:300868
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi...	OMIM:203500
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Intrauterine...	ORPHA:79282
Feingold Syndrome Type 1	Short stature, Tricuspid stenosis, Micrognathia, Patent ductus arteriosus, Multiple muscular vent...	ORPHA:391641
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Flexion contracture, Premat...	ORPHA:90324
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Hypoplasia of the maxilla, Widow's peak, Anterior ...	OMIM:136760
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Short stature, Abnormal heart morphology, Scoliosis, Thoracic hemiverte...	ORPHA:1445
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Atrial septal defect, Absent gallbladder, Lumbar hyperl...	ORPHA:500150
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Right aortic arch, Sparse lateral eyebrow, Ventriculomeg...	OMIM:617616
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Micrognathia, Hypoplasi...	OMIM:608149
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Chorioretinal coloboma, Sparse hair, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:280000
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Atrial septal defect, Sparse hair, ...	OMIM:139210
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Aganglionic megacolon, Optic disc hypoplasia, Spina bifi...	OMIM:607323
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Micrognathia, As...	OMIM:164280
Larsen Syndrome	Cervical kyphosis, Knee dislocation, Atrial septal defect, Spina bifida occulta, Hypoplastic cerv...	OMIM:150250
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171420
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Bicuspid aortic valve, Short stature, Abnormal dental...	ORPHA:96169
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Coarse hair, Atrial septal defect, Sparse hair, Patent foramen ovale,...	OMIM:617506
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Short stature, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus...	OMIM:617159
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, ...	OMIM:615368
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Ventricular septal defect, Congenital diaphragmatic hernia...	ORPHA:2143
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosi...	OMIM:214300
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l...	OMIM:305620
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Hepatomegaly, Elbow dislocation, Abnormality of the spleen, Grow...	ORPHA:2538
Lmna-Related Cardiocutaneous Progeria Syndrome	Intracranial hemorrhage, Abnormal intrahepatic bile duct morphology, Papillary renal cell carcino...	ORPHA:363618
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Dysplastic corpus callosum, Muscular ventricular septal defect, Low anterior hairline, ...	OMIM:618569
Pontocerebellar Hypoplasia, Type 13	Edema, Low posterior hairline, Lateral ventricle dilatation, Long eyelashes, Decreased liver func...	OMIM:618606
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
German Syndrome	Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Lymphedema, Micrognathia, Cr...	ORPHA:2077
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Craniosynostosis, Ventriculomegaly, Moyamoya phenomenon	ORPHA:401986
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Short stature, Joint hypermobility, Hydrocephalus, Hematochezia, Later...	OMIM:619575
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stip...	OMIM:277450
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Mitral stenosis, Ventricular septal defect, Lower extremity joint dislocat...	ORPHA:163956
Seckel Syndrome 9	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Microg...	OMIM:616777
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Short stature, Facial palsy, Decreased response to growth hormone stimulation test,...	OMIM:615873
15Q24 Microdeletion Syndrome	Joint laxity, Short stature, Decreased response to growth hormone stimulation test, Congenital di...	ORPHA:94065
Lowry-Maclean Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Bilateral cryptorchidism, Abnormality ...	ORPHA:2409
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Short ne...	ORPHA:1780
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Polyhydramnios, Decreased respon...	OMIM:213980
Distal Deletion 15Q	Short stature, Bicuspid aortic valve, Congenital diaphragmatic hernia, Mitral atresia, Double out...	ORPHA:1596
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Flexion contracture, Scoliosis	ORPHA:2148
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de...	OMIM:270100
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Prominen...	ORPHA:2962
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurv...	OMIM:609008
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Back pain, Stiff neck, Facial palsy, Leuk...	ORPHA:297
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmat...	ORPHA:99811
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation	OMIM:300982
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Diaphragmatic even...	OMIM:608978
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Retinal dystrophy, Hamar...	OMIM:263520
Bainbridge-Ropers Syndrome	Thick eyebrow, Polyhydramnios, Supernumerary nipple, Micrognathia, Cryptorchidism, Highly arched ...	OMIM:615485
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Patent ductus arteriosus, Abno...	ORPHA:2306
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Retinal detachment, Abn...	ORPHA:394
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph...	ORPHA:2311
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Rhizomelia, Short stature, Short neck, Micrognat...	ORPHA:3098
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Thick eyebrow, Short stature, Polyhydramnios, ...	OMIM:619833
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Cholelithiasis, Alopecia to...	OMIM:618775
8P23.1 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Micrognathia, Short neck, Cryptorchidism, Pulmona...	ORPHA:251071
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Micrognathia, Generalized joint ...	OMIM:619472
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Upper limb muscle weakness, Hypertension, ...	ORPHA:494424
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Short stature, Ventricular septal defect, Postnatal growth retarda...	OMIM:620113
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Carious teeth, Cryptorchidism, Hydrocephalus, Hemiverteb...	ORPHA:377
Zaki Syndrome	Dilated fourth ventricle, Sparse scalp hair, Sacral dimple, Short stature, Congenital diaphragmat...	OMIM:619648
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ...	ORPHA:373
Toriello-Carey Syndrome	Ventriculomegaly, Short stature, Aganglionic megacolon, Micrognathia, Postnatal growth retardatio...	ORPHA:3338
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl...	OMIM:273800
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Short stature, Ventricular septal defect, Congenital diaphragmatic...	OMIM:617602
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Genu recurvatum, Short neck, H...	ORPHA:915
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Spina bifida occulta, ...	ORPHA:500
Noonan Syndrome 2	Polyhydramnios, Micrognathia, Short neck, Atrial septal defect, Atrioventricular canal defect, Sh...	OMIM:605275
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomer...	OMIM:605376
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Curly eyelashes, Cardiomegaly, Pericardial effusio...	OMIM:239850
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Atherosclerosis, Micro...	OMIM:614008
Menkes Disease	Micrognathia, Venous insufficiency, Intracranial hemorrhage, Sparse hair, Woolly hair, Osteoporos...	ORPHA:565
Chops Syndrome	Curly hair, Short stature, Ventricular septal defect, Thick hair, Splenomegaly, Patent ductus art...	OMIM:616368
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, S...	OMIM:245600
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Back pain, Pulmonary edema, Decreased mean corpu...	ORPHA:244242
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Short stature, Carious teeth, Cryptor...	ORPHA:2701
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo...	ORPHA:90068
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Micrognathia, Atrial septal defect, Agenesis of corpus callo...	OMIM:614866
Acro-Renal-Ocular Syndrome	Vertebral fusion, Aganglionic megacolon, Optic disc hypoplasia, Postnatal growth retardation, Opt...	ORPHA:959
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr...	OMIM:214800
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont...	OMIM:277300
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Abnormal ...	ORPHA:261250
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co...	ORPHA:1335
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, Microgn...	ORPHA:435638
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Short sta...	OMIM:618460
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Micrognathia, Short neck, Frontotemporal hypertr...	OMIM:263210
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Postnatal growth retardation, Contracture o...	ORPHA:83617
Hypophosphatasia, Infantile	Polyhydramnios, Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, Intr...	OMIM:241500
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Abnormal heart morphology, Coarctation of aorta, Hypopla...	ORPHA:2209
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Synophrys, Abnormal form ...	ORPHA:2162
Bilateral Generalized Polymicrogyria	Growth delay, Lateral ventricle dilatation, Short stature	ORPHA:208447
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani...	ORPHA:3260
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Cyclopia, Aqueductal stenosis, Hydrocephalus, Partia...	OMIM:619895
20Q13.33 Microdeletion Syndrome	Sacral dimple, Dilation of Virchow-Robin spaces, Facial hypotonia, Highly arched eyebrow, Abnorma...	ORPHA:261311
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rha...	OMIM:109400
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation, Hypomimic face	OMIM:617854
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Intellectual Disability-Strabismus Syndrome	Short stature, Decreased response to growth hormone stimulation test, Congenital diaphragmatic he...	ORPHA:363528
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Supernumerary nipple, ...	OMIM:618454
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pulmonic stenosis...	OMIM:614262
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Chorioretinitis, B lymphocytopenia, Optic...	OMIM:301081
Mirage Syndrome	Short stature, Myelodysplasia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Thrombocy...	OMIM:617053
Transaldolase Deficiency	Short neck, Synophrys, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepatomegaly...	OMIM:606003
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ...	OMIM:227500
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Short neck, Cryptorchidism, Macroglossia, Coloboma, Transposition of the great arteries, Patent f...	OMIM:616789
Aspergillosis	Osteomyelitis, Eosinophilia, Hematological neoplasm, Vitritis, Hepatitis, Intracranial hemorrhage...	ORPHA:1163
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypopl...	ORPHA:79345
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Micrognathia, Atrial septal defect, Abnormal verte...	OMIM:147920
Alg3-Cdg	Osteopenia, Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Neural tube ...	ORPHA:79321
Noonan Syndrome 10	Atrial septal defect, Curly hair, Short stature, Ventricular septal defect, Short neck, Sparse ey...	OMIM:616564
Trisomy 1Q	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital...	ORPHA:261344
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath...	OMIM:612561
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ...	ORPHA:369929
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short stature, Short neck, Reduced bone mineral density, P...	OMIM:615279
Holoprosencephaly 5	Hydrocephalus, Lateral ventricle dilatation, Synophrys	OMIM:609637
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se...	OMIM:613795
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Delayed skeletal maturation, Disproportionate short stature, Mit...	ORPHA:2868
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Flexion contracture, Disproportiona...	OMIM:222765
White-Sutton Syndrome	Mandibular prognathia, Joint laxity, Wormian bones, Facial hypotonia, Short stature, Congenital d...	OMIM:616364
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, Synophrys, Low anterior hairline, Premature graying of ...	OMIM:619488
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Lipoma, Hemangioma, Venous...	OMIM:176920
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Noonan Syndrome 9	Curly hair, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Cryptorchidism,...	OMIM:616559
Rhizomelic Syndrome	Rhizomelia, Short stature, Micrognathia, Wide anterior fontanel, Hip dislocation, Pulmonic stenosis	OMIM:268250
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Short stature, Osteoporosis, Intracranial hemorrhage, Spars...	OMIM:309400
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H...	OMIM:264480
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Morning glory anomaly, Postnatal growth retardation, Abn...	ORPHA:91412
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Hydrops ...	ORPHA:268249
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe...	OMIM:614300
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Lateral ve...	OMIM:619244
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Hypoplas...	ORPHA:1110
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy...	OMIM:171300
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Sparse scalp hair, Short stature, Sparse eyelashes, Kyphosco...	ORPHA:75496
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Lymphedema, Highly arched eyebrow, Cryptorchidism, Patent ductus ...	OMIM:616737
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Cryptorchidism, Patent ductus arteriosus, Reduced...	OMIM:616682
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P...	ORPHA:99050
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation	OMIM:602200
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, ...	ORPHA:2970
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Joint laxity, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Gro...	ORPHA:488635
Medulloblastoma	Elevated hepatic transaminase, Back pain, Cerebellar medulloblastoma, Cerebellar hemorrhage, Medu...	ORPHA:616
Parkes Weber Syndrome	Abnormal bleeding, Back pain, Peripheral arteriovenous fistula, Cerebral arteriovenous malformati...	ORPHA:90307
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling, Lateral ventricle dilatation	OMIM:614105
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Leukopenia, Neutropenia, Pancre...	OMIM:251000
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Lissencephaly 4	Growth delay, Agenesis of corpus callosum, Colpocephaly, Short stature	OMIM:614019
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Micrognathia, Cryptorchidism, Kyphosis, Dysplastic t...	ORPHA:1724
Lessel-Kreienkamp Syndrome	Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Pulmo...	OMIM:619149
Diamond-Blackfan Anemia 16	Atrial septal defect, Anemia, Pulmonic stenosis	OMIM:617408
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology, Hemangioma	ORPHA:398189
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Scoliosis, Neonatal death, Intrauterine ...	OMIM:619055
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Micrognathia, Delayed sk...	ORPHA:228410
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:619343
Wildervanck Syndrome	Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Pseudopa...	ORPHA:3456
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Short stature, Short neck, Patent ductus arteriosus, Optic disc colobo...	ORPHA:52055
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Intrauterine gr...	OMIM:614702
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Accelerat...	ORPHA:137634
Dworschak-Punetha Neurodevelopmental Syndrome	Peripheral axonal neuropathy, Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Short neck...	OMIM:619955
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Abnormal mesentery morphology, Abn...	ORPHA:2075
Cooper-Jabs Syndrome	Ventricular septal defect, Short stature, Camptodactyly of finger, Congenital diaphragmatic herni...	ORPHA:1488
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Joint laxity, Carotid artery dissection, Congenita...	OMIM:208050
Costello Syndrome	Short stature, Ventricular septal defect, Polyhydramnios, Abnormal dental enamel morphology, Shor...	ORPHA:3071
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Bone pain, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramu...	ORPHA:79
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Lef...	ORPHA:251274
Legius Syndrome	Micrognathia, Short neck, Neurofibroma, Supravalvar pulmonary stenosis, Low posterior hairline, M...	OMIM:611431
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae, Abnormal optic disc mor...	ORPHA:96121
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Robinow Syndrome	Fused thoracic vertebrae, Short stature, Ventricular septal defect, Kyphoscoliosis, Micrognathia,...	ORPHA:97360
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Junc...	OMIM:309801
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Partial agenesis of the corpus ...	OMIM:619103
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation	OMIM:615716
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Superficial Siderosis	Abnormal bleeding, Enlarged sylvian cistern, Back pain, Subarachnoid hemorrhage, Internal hemorrh...	ORPHA:247245
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect,...	OMIM:194190
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyop...	OMIM:300952
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Enlarged sylvian cistern, Retinal dystrophy, Short stature, Highly arche...	OMIM:615802
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Fetal Alcohol Syndrome	Short stature, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Visceral angiomato...	ORPHA:1915
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund...	ORPHA:2260
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Multiple muscular ventricular septal defects, Sparse hair, Pulmonic stenosis	OMIM:615508
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Noonan Syndrome 4	Abnormal bleeding, Curly hair, Ventricular septal defect, Short stature, Polyhydramnios, Short ne...	OMIM:610733
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Congenital diaphragmatic hernia, Limitation of joint mobility, F...	ORPHA:171719
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Short stature, Abnormal...	ORPHA:2916
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h...	ORPHA:740
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Polyhydramni...	OMIM:612562
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, Atrial septal defec...	ORPHA:2745
Warsaw Breakage Syndrome	Ventricular septal defect, Postnatal growth retardation, Optic disc coloboma, Intrauterine growth...	OMIM:613398
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	OMIM:618499
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract...	ORPHA:77259
Kniest Dysplasia	Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o...	ORPHA:485
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Back pain, Facial palsy, Subarachnoid hemorrhage...	ORPHA:2356
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Short stature, Ventriculomegaly	OMIM:616430
Van Esch-O'Driscoll Syndrome	Sacral dimple, Short stature, Ventricular septal defect, Pulmonary artery stenosis, Spina bifida ...	OMIM:301030
Chime Syndrome	Ventricular septal defect, Supernumerary tooth, Hip dislocation, Tetralogy of Fallot, Osteolysis,...	ORPHA:3474
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Cat Eye Syndrome	Short stature, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Biliary atresia...	OMIM:115470
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Edema, Autoimmune thrombocytopenia, Abnor...	ORPHA:324636
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Dextrocardia, Polyhydramnios, Hydrocephalus, Abnormality of the vertebral column, ...	OMIM:314390
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Scolios...	OMIM:619910
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Abnor...	ORPHA:3320
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Stiff neck, Cardiom...	OMIM:617022
Paganini-Miozzo Syndrome	Mandibular prognathia, Lateral ventricle dilatation	OMIM:301025
Tonne-Kalscheuer Syndrome	Short stature, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Abnormal heart morp...	OMIM:300978
Spondyloenchondrodysplasia	Enchondroma, Delayed eruption of teeth, Abnormal lateral ventricle morphology, Pancytopenia, Shor...	ORPHA:1855
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Facial capillary hemangioma, Edema of the dorsum of hands, Micrognat...	OMIM:274000
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Neuroma, Choroidal hemangioma, Meningioma, Scolio...	ORPHA:221061
Noonan Syndrome 5	Mandibular prognathia, Curly hair, Short stature, Polyhydramnios, Short neck, Sparse eyebrow, Cry...	OMIM:611553
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Short stature, Edema, Polyhydramnios, Short neck, C...	OMIM:613224
Stormorken Syndrome	Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Howell-Jolly bodies, Asplen...	OMIM:185070
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Short stature, Palpebral edema, Sparse axillary hair, Sparse pubic hair, C...	OMIM:181270
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells	OMIM:256150
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni...	OMIM:619433
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Abnormal position of hair whorl, Growth delay, Hydrocele testis, Lateral v...	ORPHA:85290
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Umbilical hernia, Righ...	OMIM:616028
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath...	ORPHA:2388
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Palpebral edema, Micrognathia, Cubitus valgus, Cry...	OMIM:214110
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Asplenia, Flexion contracture, Abnormality of the p...	ORPHA:261552
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Otopalatodigital Syndrome Type 2	Encephalocele, Increased bone mineral density, Abnormal heart valve morphology, Camptodactyly of ...	ORPHA:90652
Frontoocular Syndrome	Micrognathia, Coronal craniosynostosis, Capillary hemangioma, Pulmonic stenosis, Atrial septal de...	OMIM:605321
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Conical incisor, Atrial septal ...	OMIM:235510
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura, Hepatic fa...	ORPHA:49566
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrh...	OMIM:202400
Weill-Marchesani Syndrome	Ventricular septal defect, Short stature, Limitation of joint mobility, Mitral regurgitation, Pul...	ORPHA:3449
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplas...	OMIM:620025
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly	OMIM:616034
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Micrognathia, Optic atrophy, Fused cervical vertebrae, Thoraci...	ORPHA:530983
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Bilateral Polymicrogyria	Micrognathia, Abnormality of masticatory muscle, Facial diplegia, Abnormal glossopharyngeal nerve...	ORPHA:268940
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congeni...	ORPHA:3455
Tyshchenko Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Supernumerary nipple, Thick hair, Crypt...	OMIM:615102
Kawasaki Disease	Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Edema, Myocarditis, Jau...	ORPHA:2331
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg...	ORPHA:57777
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Peripheral retinal avascularization, Polyhydramnios, Micrognathia, Hypopla...	ORPHA:96334
Jansen-De Vries Syndrome	Bicuspid aortic valve, Short stature, Ventricular septal defect, Hyperlordosis, Central diaphragm...	OMIM:617450
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Short stature, Ventricular septal defect, Micrognathia, Sit...	ORPHA:1908
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Abnormal heart mor...	ORPHA:261197
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Cardiofaciocutaneous Syndrome	Brittle hair, Lymphedema, Short neck, Sparse hair, Atrial septal defect, Dystrophic fingernails, ...	ORPHA:1340
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Abnormal retinal morphology, Micrognathia, Antecubital pterygi...	ORPHA:40366
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis, Dehydration	ORPHA:79159
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Facial capillary hemangioma, Micrognathia, Short...	ORPHA:818
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia...	OMIM:154400
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept...	ORPHA:280
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Short neck, Pericardial effusion, Kyphosis, Delayed skeletal maturation, Hip...	OMIM:608776
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Dex...	OMIM:614294
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom...	OMIM:616843
17Q11 Microdeletion Syndrome	Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morpholog...	ORPHA:97685
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Flexion contracture, Optic at...	ORPHA:86309
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Asplenia, Flexion contracture, Abnormality of the p...	ORPHA:261537
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Noonan Syndrome 7	Curly hair, Short stature, Short neck, Lentigo maligna melanoma, Low posterior hairline, Growth d...	OMIM:613706
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Choroidal neovascularization, Edema, Cardiomegaly, Polyhy...	ORPHA:51608
Chondrodysplasia, Blomstrand Type	Fetal ascites, Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Generalized osteosc...	OMIM:215045
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Highly arched eyebrow, Cryptorchidism, Synophrys, Conotruncal defect, Coarc...	ORPHA:96147
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Leukopenia, Bone marrow hypocellularity, Thromb...	OMIM:243500
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Upper limb amy...	ORPHA:100991
Nelson Syndrome	Quadriceps muscle atrophy, Pituitary corticotropic cell adenoma, Testicular neoplasm, Adrenocorti...	ORPHA:199244
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Ventriculomegaly, Aortic dissection, Joint hypermobility, Micrognathia, Retrognathia, Varicose ve...	OMIM:618343
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxi...	OMIM:166300
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, Sp...	OMIM:115150
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatat...	OMIM:612301
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormal retinal morphology, Lymphedem...	ORPHA:33276
Microform Holoprosencephaly	Short stature, Cyclopia, Agenesis of corpus callosum, Hemangioma, Scoliosis, Intrauterine growth ...	ORPHA:280200
Coffin-Siris Syndrome 4	Atrial septal defect, Sparse scalp hair, Thick eyebrow, Short stature, Ventricular septal defect,...	OMIM:614609
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, ...	OMIM:612530
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Ventricular septal defect, Short stature, Craniosynostosis, Micrognathi...	ORPHA:166035
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Short stature, Bicuspid aortic valve, Ventricul...	ORPHA:261494
Donnai-Barrow Syndrome	Retinal detachment, Ventricular septal defect, Retinal dystrophy, Congenital diaphragmatic hernia...	OMIM:222448
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Frontal balding, Micrognathia, Short neck, Cryptorchidis...	ORPHA:96092
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Lateral ventricle dilatation, Short stature, Polyhydramnios	OMIM:619847
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Epiphyseal stippling, Colpocephaly, Decreased liver function, Neonatal death	OMIM:614870
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Cholecystitis, E...	ORPHA:99827
Pagod Syndrome	Encephalocele, Short stature, Congenital diaphragmatic hernia, Sudden cardiac death, Situs invers...	ORPHA:991
Vascular Hyalinosis	Subarachnoid hemorrhage, Premature graying of hair, Hematochezia, Chorioretinal scar, Vascular di...	OMIM:277175
Kabuki Syndrome	Short stature, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, Hydrocepha...	ORPHA:2322
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth r...	OMIM:300867
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Scoliosis, Contracture...	OMIM:620141
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow ...	OMIM:617137
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Focal Dermal Hypoplasia	Acute hepatic failure, Alopecia, Ventricular septal defect, Camptodactyly of finger, Diastasis re...	ORPHA:2092
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Growth delay, Pulmonic stenosis, Olig...	ORPHA:139466
Kapur-Toriello Syndrome	Ventricular septal defect, Short neck, Dysplastic corpus callosum, Patent ductus arteriosus, Reti...	ORPHA:2328
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu...	OMIM:175780
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ventricular septal defect, Abnormal heart morphology, Coarctation of ao...	ORPHA:261183
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Sacral dimple, Short stature, Increased nuchal translucency, Limb hypertonia, Fetal intraventricu...	OMIM:618480
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the vertebral column, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Micrognathia, Abnormal curvature of the vertebral column, ...	ORPHA:353277
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Hypertension, Lateral ventricle dilatation, Atrial septal defect, Intraute...	OMIM:300896
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Intracranial ...	ORPHA:91350
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Hip dislocation, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, De...	OMIM:101200
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C...	OMIM:612541
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Lens coloboma...	ORPHA:42775
Trichohepatoenteric Syndrome 1	Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Hepatomegaly, Short stature, Increas...	OMIM:222470
Costello Syndrome	Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, Limited elbow ...	OMIM:218040
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
X-Linked Parkinsonism-Spasticity Syndrome	Ankle clonus, Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Alopecia, Abnormal pulmonary valve morphology, Portal...	ORPHA:974
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Micrognathia, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrop...	OMIM:620089
Glutaric Acidemia I	Hepatomegaly, Symmetrical progressive peripheral demyelination, Hydrocephalus, Lateral ventricle ...	OMIM:231670
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyo...	ORPHA:638
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Prominent veins on trunk, Knee d...	ORPHA:536532
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula, Microgn...	OMIM:619699
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Neoplasm, Hypoplasia ...	ORPHA:906
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Short stature, Nephroblastoma, Micrognathia, Postnatal growth retardation, Cryp...	OMIM:257300
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic...	ORPHA:438134
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert...	ORPHA:50
Orofaciodigital Syndrome V	Aganglionic megacolon, Ventricular septal defect, Unilateral cryptorchidism, Hamartoma of tongue,...	OMIM:174300
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Doors Syndrome	Adrenal hyperplasia, Polyhydramnios, Sagittal craniosynostosis, Optic atrophy, Hemivertebrae, Low...	ORPHA:79500
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Carious teeth, Absent eyelashes, Sp...	ORPHA:2316
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Neoplasm, Atrial sep...	ORPHA:353281
Vacterl/Vater Association	Occipital encephalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia...	ORPHA:887
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis, Coarcta...	OMIM:217085
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity...	ORPHA:284984
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Patent ductus...	ORPHA:555877
Keratoconus Posticus Circumscriptus	Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,...	OMIM:244600
Alagille Syndrome 2	Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te...	OMIM:610205
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomeg...	ORPHA:36412
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Eosinophilia, Micrognathia, Spinal canal stenosis, Pulmonic stenosis, At...	OMIM:618282
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Mor...	OMIM:613309
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Congenital diaphragmatic hernia, Hamartoma of tongue, Short neck, Hydrocephalus, ...	OMIM:616546
Distal Deletion 19P	Alopecia, Ventricular septal defect, Hypoplasia of the maxilla, Joint hyperflexibility, Tricuspid...	ORPHA:96129
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Goiter, Dextrocardia, Situs inversus totalis	OMIM:617577
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:250972
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Prominent metopic ridge, Short stature, Micrognathia, C...	OMIM:619148
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Micrognathia, Thoracolumbar scol...	ORPHA:2437
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Osteopenia, Joint laxity, Morgagni diaphra...	OMIM:613177
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Spina bifida occulta, Wrist flexion contracture, Dislocated...	ORPHA:1826
Greig Cephalopolysyndactyly Syndrome	Congenital diaphragmatic hernia, Accelerated skeletal maturation, Craniosynostosis, Hydrocephalus...	ORPHA:380
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Micrognathia, Short neck...	ORPHA:1834
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Short stature, Congenital diaphragmatic hernia, Short neck, Polycystic ova...	ORPHA:284180
Ververi-Brady Syndrome	Short stature, Delayed skeletal maturation, Transposition of the great arteries, Scoliosis, Intra...	OMIM:617982
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Thick eyebrow, Bicuspid aortic valve, Short stature, Ventricular sept...	OMIM:610759
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100006
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, C...	ORPHA:3380
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn...	ORPHA:93315
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep...	OMIM:108900
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Cerebrofacioarticular Syndrome	Osteopenia, Short stature, Lymphedema, Micrognathia, Dysplastic corpus callosum, Hypoplasia of th...	ORPHA:314679
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Dilated fourth ventricle, Osteopenia, ...	OMIM:212065
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Prominent metopic ridge, Thick eyebrow, Ventricul...	ORPHA:488632
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Short stature, Ventricular septal defect, Proportionate short stature, Join...	OMIM:608328
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Prominent metopic ridge, Short stature, Delayed cranial suture c...	ORPHA:1272
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Scapular winging, Vertebral fusion, Block vertebrae, Tarsal ...	OMIM:272460
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Short neck, Disproportionate short-trunk s...	OMIM:122600
Diaphanospondylodysostosis	Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb...	ORPHA:66637
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Thoracic hemivertebrae, Dislocated radial head, Joint la...	OMIM:268310
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Hem...	ORPHA:284227
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Squamous cell carcinoma, Growth delay...	OMIM:243700
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Secretory adrenocortical a...	ORPHA:403
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Atrial septal defect, Hepatoblastoma, Agenesi...	ORPHA:1465
Poems Syndrome	Sclerosis of hand bone, Papilledema, Thrombocytosis, Lymphoproliferative disorder, Edema, Scleros...	ORPHA:2905
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis...	OMIM:619656
Branchial Arch Syndrome, X-Linked	Cryptorchidism, Short stature, Pulmonic stenosis	OMIM:301950
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Osteomyelitis, Rod-cone dystrophy, Kyphosis, Axonal dege...	ORPHA:88628
Igg4-Related Aortitis	Low back pain, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Asce...	ORPHA:449400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, C...	OMIM:617260
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inve...	OMIM:619123
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Hemivertebrae, Radioulnar synostosis, Scoliosis, Pulmonic stenosis, Metacarpal syno...	OMIM:212780
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Abnormal hair morphology, Crypt...	ORPHA:96167
Leopard Syndrome 1	Mandibular prognathia, Bundle branch block, Scapular winging, Short stature, Kyphoscoliosis, Shor...	OMIM:151100
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong...	OMIM:614473
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Short stature, Ventricular septal defect, Polyhydramnios, Sagit...	OMIM:609942
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn...	ORPHA:99104
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Short stature, Ventricular septal defect, Proportionate short stature, Join...	OMIM:277600
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Secretory adrenocortical a...	ORPHA:404
Atelis Syndrome 2	Sacral dimple, Remnants of the hyaloid vascular system, Micrognathia, Thrombocytopenia, Patent du...	OMIM:620185
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Adrenal gl...	OMIM:611812
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Short neck, Synophrys, Dislocated radial head, Sho...	OMIM:122470
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Intraventricular hemorrh...	ORPHA:420741
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Joint dislocation, Subdural hemorrhage, Retinal hemorrhage, Subepend...	ORPHA:25
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of th...	ORPHA:84064
Neu-Laxova Syndrome 1	Polyhydramnios, Micrognathia, Short neck, Neonatal death, Pterygium, Agenesis of corpus callosum,...	OMIM:256520
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Milroy Disease	Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydrocele testis, V...	ORPHA:79452
Peters-Plus Syndrome	Bilobate gallbladder, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Short neck, Limite...	OMIM:261540
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Short stature, Pulmonic stenosis, Joint stiffness	OMIM:614819
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Patent foramen ov...	ORPHA:444077
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Facial hypotonia, Optic nerve hypoplasia, Joint hypermobility, Abnormal ...	ORPHA:457284
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Fanconi Anemia	Micrognathia, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Neoplasm, Atria...	ORPHA:84
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Monosomy 13Q34	Epistaxis, Micrognathia, Growth delay, Hematochezia, Prolonged prothrombin time, Agenesis of corp...	ORPHA:96168
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Papilledema, Hep...	ORPHA:2072
Duane Retraction Syndrome	Skeletal muscle atrophy, Patchy hypopigmentation of hair, Optic disc hypoplasia, Micrognathia, Sh...	ORPHA:233
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Short neck, Low posterior hairline, Scoliosis, Cervical C2/C3 ve...	OMIM:118100
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Lymphedema, Micrognathia, Short neck, Atrial septal defect, Abn...	OMIM:163950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Trident pelvis, Flexion contracture, Lateral ventricle dilatation, Small pituitary gland, Disprop...	OMIM:619479
2Q37 Microdeletion Syndrome	Sparse scalp hair, Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, Short ne...	ORPHA:1001
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Genu valgum	ORPHA:488627
White-Sutton Syndrome	Joint laxity, Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Short neck, Optic...	ORPHA:468678
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Micrognathia, Atrial septal defect, Abnormal dental pulp morphology, Subcutaneous neurofibroma, P...	ORPHA:363700
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,...	ORPHA:568051
Tarp Syndrome	Extramedullary hematopoiesis, Abnormal hair pattern, Micrognathia, Cryptorchidism, Optic atrophy,...	ORPHA:2886
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Retinopathy, Sub...	ORPHA:743
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Congenital diaphragmatic hernia, Crypto...	OMIM:618846
Meier-Gorlin Syndrome 7	Joint laxity, Ventricular septal defect, Short stature, Sagittal craniosynostosis, Craniosynostos...	OMIM:617063
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Mandibular prognathia, Genu ...	ORPHA:2969
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell ...	ORPHA:97289
Livedoid Vasculopathy	Pancytopenia, Enlargement of the ankles, Abnormal capillary morphology, Telangiectasia of the ski...	ORPHA:542643
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Facial hypotonia, Ventricular septal defect, Micrognathia, Short neck, Cryptorchid...	OMIM:613458
Alg9-Cdg	Micrognathia, Short neck, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricula...	ORPHA:79328
Craniofrontonasal Dysplasia	Camptodactyly of finger, Craniosynostosis, Congenital diaphragmatic hernia, Abnormality of hair t...	ORPHA:1520
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial eff...	ORPHA:292
X-Linked Mandibulofacial Dysostosis	Short stature, Micrognathia, Cryptorchidism, Branchial anomaly, Hypoplasia of the zygomatic bone,...	ORPHA:1131
Acys Amyloidosis	Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy	ORPHA:100008
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina...	ORPHA:2369
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Streak ovary, Abnormal peripheral myelination, Increased circulating gon...	ORPHA:168563
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Congestive heart failure, Visceral angiomatosis, Ovari...	ORPHA:137608
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Lower limb amyotrophy, Limb hypertonia	ORPHA:401815
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Short neck, Hydrocephalus, Synophrys, Growth delay, Congenital contracture, Colpoce...	OMIM:620156
Smith-Lemli-Opitz Syndrome	Facial capillary hemangioma, Micrognathia, Partial agenesis of the corpus callosum, Atrial septal...	OMIM:270400
Hamamy Syndrome	Osteopenia, Prolonged QRS complex, Microcytic anemia, Micrognathia, Sparse hair, Atrial septal de...	OMIM:611174
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Short stature, Osteoarthritis, Subdural hemorrhage, Skeletal muscle hypert...	OMIM:619714
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microretrognathia, Ventricular septal defect, Hamartoma of tongue, Shor...	ORPHA:434179
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Hyperlordosis, Short neck, Micrognathia, Kyphosis, Fused cervical vertebrae, Abnor...	ORPHA:2522
Caudal Regression Syndrome	Decreased muscle mass, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypopla...	ORPHA:3027
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Patent ductus a...	OMIM:147750
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal matu...	OMIM:312870
Hemorrhagic Fever-Renal Syndrome	Back pain, Intracranial hemorrhage, Ecchymosis, Internal hemorrhage, Leukocytosis, Hypotension, A...	ORPHA:340
Mowat-Wilson Syndrome	Delayed eruption of teeth, Broad eyebrow, Short stature, Pulmonary artery sling, Ventricular sept...	OMIM:235730
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform asc...	OMIM:617168
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra...	OMIM:613406
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Intrauterine growth ...	OMIM:617333
Keppen-Lubinsky Syndrome	Polyhydramnios, Micrognathia, Flexion contracture, Lateral ventricle dilatation, Scoliosis	OMIM:614098
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Retrognathia, Choroid plexus cyst, Oligohydramnios	ORPHA:293725
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Agenesis of corpus callosum, Hepatic steatos...	ORPHA:1606
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Colpocephaly, Scoliosis	OMIM:618731
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert...	ORPHA:1436
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Tetrasomy 9P	Joint dislocation, Myositis, Micrognathia, Short neck, Biliary atresia, Intrauterine growth retar...	ORPHA:3310
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Optic...	ORPHA:87
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Complete atrioventricular canal defect, Atrioventricular canal defect,...	OMIM:619142
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Short neck, Complete atrioven...	OMIM:617925
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Short stature, Ventricular septal defect, Decreased response to ...	OMIM:146510
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbit...	ORPHA:904
Q Fever	Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Hepatomegaly, Perica...	ORPHA:781
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ...	OMIM:100300
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Polyhydramnios, Micrognathia, Atrial septal defect, Spar...	ORPHA:1662
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericardial effusion, Abno...	ORPHA:90362
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Diaphragmatic eventration, Optic nerve hypoplasia, Micrognathia, Intrau...	OMIM:615574
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Otosclerosis, Decreased response to growth hormone stimulation test, Micro...	ORPHA:529962
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae	OMIM:309620
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Proximal 16P11.2 Microduplication Syndrome	Short stature, Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Hemivertebrae, ...	ORPHA:370079
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Atrial septal...	OMIM:135900
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Cryptorchidism, Synophrys, Cono...	OMIM:610253
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Short stature, Hypoplasia of the premaxilla, Tarsal synostosis, Micr...	ORPHA:1106
Brittle Cornea Syndrome	Retinal detachment, Osteoporosis, Abnormality of hair pigmentation, Mitral valve prolapse, Increa...	ORPHA:90354
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Carious teeth, Delayed skeletal maturation, Hypoplasia of teeth, Genu valgum, Pulm...	OMIM:613312
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Joint laxity, Short stature, Bicuspid aortic valve, Ventricular se...	ORPHA:438213
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposit...	OMIM:313850
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ...	ORPHA:97214
Trisomy 8P	Dandy-Walker malformation, Multiple joint contractures, Sacral dimple, Abnormal atrioventricular ...	ORPHA:264450
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossi...	OMIM:617107
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Prolonged QT interv...	ORPHA:26793
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Optic disc pallor, Osteopenia, Joint laxity, Short stature, Highly arched ...	OMIM:620083
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Par...	OMIM:301044
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Low ...	OMIM:617796
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Block verte...	OMIM:164210
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Atrial septal def...	OMIM:616268
Acrocallosal Syndrome	Cryptorchidism, Wide anterior fontanel, Dandy-Walker malformation, Congenital diaphragmatic hernia	ORPHA:36
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Congenital diaphragmatic hernia, Micrognathia, Vitritis, Retinal dysplas...	ORPHA:2556
Poland Syndrome	Encephalocele, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Cryp...	ORPHA:2911
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Upper limb muscle weakness, Cervical C2/C3 vertebral fusion, Short stature	ORPHA:370010
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Congenital hip dislocation, Alopecia, Congenital diaphragmatic hernia, Cryptorc...	ORPHA:1647
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Me...	ORPHA:199241
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Mckusick-Kaufman Syndrome	Short stature, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorchidis...	ORPHA:2473
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Supernumerary tooth, Scoliosis, Enamel hypoplasia, Tetralogy of Fallot, Ag...	ORPHA:2919
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Low back pain, Myelopathy, Cervical myelopathy, Arteriov...	ORPHA:79093
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Micrognathia, Complete atrioventricu...	OMIM:236680
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
13Q12.3 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Kyphoscoliosis, Cryptorchidism, Upper eyelid edem...	ORPHA:412035
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema	ORPHA:75508
Congenital Tracheomalacia	Ventricular septal defect, Tracheomalacia, Cardiomegaly, Patent ductus arteriosus, Partial anomal...	ORPHA:95430
Hennekam Syndrome	Benign neoplasm of the central nervous system, Lymphopenia, Delayed eruption of teeth, Mild postn...	ORPHA:2136
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Multiple joint contractures, Lymphedema, Intracranial hemorrha...	ORPHA:79318
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Short stature, Accelerated skeletal maturation, Testicular adrenal rest tumor, Polycyst...	ORPHA:90795
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Intellectual Developmental Disorder, Autosomal Dominant 43	Umbilical hernia, Synophrys, Hirsutism, Pulmonic stenosis	OMIM:616977
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Joint laxity, Curly hair, Sparse scalp hair, Ventricular septal defect, Sho...	OMIM:607721
Neurofibromatosis-Noonan Syndrome	Short stature, Short neck, Secundum atrial septal defect, Cryptorchidism, Neurofibroma, Low poste...	OMIM:601321
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Kyphosis, Hemivertebrae, Hip dislocati...	ORPHA:958
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Accelerated...	ORPHA:116
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Polyhydramnios, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosus, Hydrocel...	OMIM:614080
Acute Transverse Myelitis	Back pain, Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hyperten...	ORPHA:139417
Enlarged Parietal Foramina	Occipital encephalocele, Multiple exostoses, Craniosynostosis, Myelomeningocele, Abnormal cerebra...	ORPHA:60015
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Edema, Pericardial eff...	OMIM:615846
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Neoplasm of the adrenal gland, Intracranial hemorrhage, Hypertension, Palpitations, Ab...	ORPHA:231625
Legius Syndrome	Short stature, Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachyca...	ORPHA:137605
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Scoliosis, Pulmonic stenosis	OMIM:617600
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Congenital diaphragmatic hernia, Supravalvular aortic stenosis, Ascending tubular a...	OMIM:219100
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Cryptorchidism, Hydrocephalus, Flexion contracture, Kyphosis, Scoliosis, Dilated t...	ORPHA:500055
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Complete atrioventricular canal defect, Kyphosis, Synophrys, Eruption failure, Scol...	ORPHA:476126
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Decreased skull ossification, Congenital diaphragmatic hernia	ORPHA:2141
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Increase...	ORPHA:77261
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Elevated hemoglobin A1c	OMIM:619278
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri...	ORPHA:90186
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect, Micrognathia	OMIM:243440
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Short stature, Ventricular septal defect, Micrognathia, Situ...	OMIM:309500
Alagille Syndrome 1	Elevated hepatic transaminase, Ventricular septal defect, Butterfly vertebral arch, Hepatocellula...	OMIM:118450
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Developmental And Epileptic Encephalopathy 31B	Agenesis of corpus callosum, Colpocephaly, Optic atrophy, Ventriculomegaly	OMIM:620352
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Joint laxity, Bicuspid aortic valve, Short stature, Craniosynostosis, Valvular pulmonary stenosis...	OMIM:300707
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Sparse scalp hair, Short stature, Limited elbow movement, Mi...	ORPHA:221120
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Atelosteogenesis, Type I	Encephalocele, Rhizomelia, Polyhydramnios, Micrognathia, Short neck, Cryptorchidism, Thoracic pla...	OMIM:108720
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma,...	ORPHA:538
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi...	OMIM:620233
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Micrognathia, Pineal cyst, Right aortic arch, Lower-limb joint contrac...	ORPHA:513456
Familial Congenital Mirror Movements	Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Chédiak-Higashi Syndrome	Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ...	ORPHA:167
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Ectopic o...	OMIM:135100
Burning Mouth Syndrome	Xerostomia, Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ...	ORPHA:100078
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Atrial septal ...	OMIM:194050
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Short stature, Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar syn...	OMIM:171480
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Synophrys, Low anterior hairline, Atri...	ORPHA:199
Focal Dermal Hypoplasia	Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Chorioretinal coloboma...	OMIM:305600
Cebalid Syndrome	Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia	OMIM:618774
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Congenital hip dislocation, Ventri...	OMIM:606170
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse...	ORPHA:306542
Kbg Syndrome	Vertebral fusion, Short stature, Short neck, Cryptorchidism, Delayed skeletal maturation, Synophr...	OMIM:148050
Igg4-Related Ophthalmic Disease	Palpebral edema, Cholangitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbit...	ORPHA:449563
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Short stature, Interphalangeal joint contractur...	OMIM:151200
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, Low anterior hairline, Knee flexion contracture, Atrial sep...	OMIM:614976
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Proportionate short stature, Cryptorchidism, Trismus, Widow's peak, Dental malo...	OMIM:227330
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Acute Liver Failure	Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Thrombocyto...	ORPHA:90062
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, Lower limb hy...	ORPHA:477993
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Growth delay, Vascula...	OMIM:617641
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pul...	ORPHA:70591
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Congenital diaphragmatic hernia, Arterial tortuosity, Micrognathia,...	OMIM:614437
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Decreased skull ossification, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Test...	OMIM:601163
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Agenesis of corpus callosum, Hyp...	OMIM:618748
Craniofrontonasal Syndrome	Joint laxity, Curly hair, Short stature, Congenital diaphragmatic hernia, Short neck, Cryptorchid...	OMIM:304110
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Short stature, Short umbilical cord, Thick eyebrow	OMIM:618367
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Splenomegaly, Osteolysis, Joint swelling, ...	OMIM:612852
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, Coarse hair, Abnormality of the wrist, Osteomalacia, Osteoporos...	ORPHA:198
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Micrognathia, Sparse eyebrow, ...	OMIM:606164
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Wormian bones, Abnormality of the wrist, Venous insufficiency, Decreased nerve...	ORPHA:285
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vertebrae, Scoliosis,...	OMIM:271520
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Multiple ...	ORPHA:2063
Pitt-Hopkins-Like Syndrome 2	Scoliosis, Pulmonic stenosis	OMIM:614325
Clapo Syndrome	Lymphedema, Varicose veins, Capillary hemangioma, Ganglioneuroma, Venous malformation	ORPHA:168984
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P...	OMIM:192350
Gitelman Syndrome	Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdo...	ORPHA:358
Pallister-Killian Syndrome	Edema of the dorsum of feet, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhyd...	OMIM:601803
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Asplenia, Flexion contracture, Agenesis of corpus c...	ORPHA:2152
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Spinal dysraphism, Scoliosis, Lipoma, Nephroblastoma, Venous malformation	OMIM:612918
Iniencephaly	Encephalocele, Rhizomelia, Polyhydramnios, Congenital diaphragmatic hernia, Spina bifida, Hyperlo...	ORPHA:63259
Juvenile Polyposis Syndrome	Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Edema, Hamartomatous po...	ORPHA:2929
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Hematochezia, Coloboma, Anasa...	OMIM:618183
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa...	OMIM:600460
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hy...	ORPHA:276280
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Congenital diaphragmatic hernia	ORPHA:63862
Acrorenal-Mandibular Syndrome	Absent nipple, Congenital diaphragmatic hernia, Micrognathia, Kyphoscoliosis, Elbow flexion contr...	OMIM:200980
You-Hoover-Fong Syndrome	Coarctation of aorta, Kyphoscoliosis, Double aortic arch, Vascular ring	OMIM:616954
1Q41Q42 Microdeletion Syndrome	Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nu...	ORPHA:250999
Watson Syndrome	Neurofibroma, Short stature, Pulmonic stenosis, Lisch nodules	OMIM:193520
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Internal hemorrhage, Abnormal blee...	ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Hypermobility of interphalangeal joints, Finger j...	OMIM:130050
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Predominantly lower limb lymphedema, Dilated third ventricle, Optic atrophy	ORPHA:314404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv...	OMIM:615287
Neurotrophic Keratopathy	Corneal stromal edema, Abnormal fifth cranial nerve morphology	ORPHA:137596
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Cavernous hemangioma of the face, Coarctation of aorta	OMIM:140850
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl...	ORPHA:2470
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Bilateral cryptorchidism, Hypoplasia of the max...	OMIM:211380
Keutel Syndrome	Ventricular septal defect, Premature fusion of phalangeal epiphyses, Costal cartilage calcificati...	OMIM:245150
Monosomy 9P	Congenital diaphragmatic hernia, Short neck, Micrognathia, Cryptorchidism, Synophrys, Limitation ...	ORPHA:261112
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Congenital diaphragmati...	OMIM:615919
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, V...	ORPHA:649
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Splenomegaly, Trismus, Anemia, Thrombocytopenia	OMIM:230900
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation, Lymphedema	OMIM:613089
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Nephroblastoma, Congenital diaphragmatic hernia, Wide anteri...	OMIM:194080
C Syndrome	Joint dislocation, Sacral dimple, Short stature, Polyhydramnios, Congenital diaphragmatic hernia,...	ORPHA:1308
Non-Syndromic Posterior Hypospadias	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:95706
6Q Terminal Deletion Syndrome	Joint laxity, Prominent metopic ridge, Highly arched eyebrow, Short neck, Micrognathia, Low anter...	ORPHA:75857
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Kyphoscoliosis, Micrognathia, Joint stiffness, Cryptorchidism, Dysplastic corpus ca...	OMIM:618820
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Craniorachischisis	Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63260
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Asplenia, Hydrocephalus, Adrenal gland agenesis	OMIM:273395
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
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

DSS Histology

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

X-ray

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 20.1 Data