Gene Summary

Name:
signal sequence receptor, beta
Synonyms:
TRAPbeta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote Ambiguous
Peyer's patch N/A heterozygote Ambiguous
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

DSS Histology

Images

8 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 91 images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Verheij Syndrome
Retrognathia, Optic nerve hypoplasia, Coloboma, Truncus arteriosus, Scoliosis, Hemivertebrae, Sho... OMIM:615583
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Intrauterine... OMIM:609029
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Scoliosis, Camptodactyly, Low posterior hairline, Pulmonic stenosis... OMIM:179613
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Facial palsy, Cerebral hemorrhage, Lymphopenia, Bicuspid a... OMIM:182410
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Pulmonic stenosis, Aortic valve stenosis, Intrau... ORPHA:96170
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Joint stiffness, Micrognathia, Intrauterine growt... ORPHA:2516
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Bicuspid aortic valve, Ventriculomegaly, ... ORPHA:508498
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydrocephalus, Dandy-Walker malformation, ... OMIM:220210
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cereb... ORPHA:36382
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Stankiewicz-Isidor Syndrome
Retrognathia, Sacral dimple, Truncus arteriosus, Abnormal optic disc morphology, Cryptorchidism, ... OMIM:617516
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest... OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Pulmonary art... ORPHA:401935
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Increased variability in muscle fiber diameter, Lateral ventricle dilatation, Ven... OMIM:616816
Scimitar Syndrome
Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior... ORPHA:185
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Delayed puberty, Decreased response to growth hormone stimu... ORPHA:280679
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Patent ductus arteriosus, Highly arched eyebrow, Tracheobronchomalacia, Sc... OMIM:617751
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Spondylolysis, Muscle hemorrhage, Osteolysis involving ... ORPHA:464321
Sandestig-Stefanova Syndrome
Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Highl... OMIM:618804
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Polyhydramnios, Spina bifida occulta, Scoliosis, Kyphosis, Arthrog... OMIM:618291
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Perimembranous ventricular septal defect, Anemia, Cardiomegaly, Hyper... OMIM:620135
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation, Patent ductus arteriosus, Atrial septal defect, Vent... OMIM:618330
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Postnatal growth retardation, Decreased response to growth hormone stimulati... OMIM:300845
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Growth delay, Micrognath... ORPHA:1727
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Hypertensio... ORPHA:371428
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Scoliosis, Pulmonic stenosis, Enamel hypoplasia, Umbili... OMIM:618205
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Elevated circulating hepatic transaminase concentration, Optic nerve hypoplasia, Pu... OMIM:301056
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Perimembranous ventricular septal defect, Transposition of the great arteries, Spondy... OMIM:617877
Chromosome 22Q11.2 Deletion Syndrome, Distal
Short stature, Highly arched eyebrow, Truncus arteriosus, Intrauterine growth retardation OMIM:611867
Halperin-Birk Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Long ey... OMIM:618651
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Retrognathia, Perimembranous ventricular septal defect, Muscular vent... ORPHA:363444
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Sacral dimple, Anomalous origin of left coronary artery from the pulmonary... OMIM:618845
Heart And Brain Malformation Syndrome
Polyhydramnios, Limb hypertonia, Interrupted aortic arch, Wide anterior fontanel, Dandy-Walker ma... OMIM:616920
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Abnormal cranial nerve morp... ORPHA:2345
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricular septal defects, S... OMIM:620070
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Ventr... OMIM:265380
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Severe postnatal growth retardation, Dandy-Walker malformation, Ventricular septal... ORPHA:3078
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Petechiae, Pl... OMIM:617397
Loeys-Dietz Syndrome 2
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:610168
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Intrauterine growth retardation, Cardiomegaly, Tran... ORPHA:3384
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Scoliosis, Short stature, Lower limb hypertonia, Dextrotransposition of the great ... OMIM:619995
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Angioid streaks of the fundus... OMIM:177850
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Highly arched eyebrow, Colpocephaly, Cerebral edema, Lateral ventric... OMIM:620371
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Decreased nerve conduction velocity, Joint hypermobility, Aortic aneurysm,... ORPHA:477817
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Hypertension, Ascites, Pericarditis, Low... OMIM:619487
Sotos Syndrome
High anterior hairline, Muscular ventricular septal defect, Genu valgum, Advanced eruption of tee... OMIM:117550
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Muscular ventricular septal defect, Prolonged QT interval, Elevated circulating he... ORPHA:66634
Slc35A2-Cdg
Osteopenia, Hip subluxation, Elevated circulating hepatic transaminase concentration, Craniosynos... ORPHA:356961
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Interrupted aortic arch, Facial palsy, Retinal coloboma, Coarctation of aorta OMIM:107550
Alg12-Cdg
Prolonged prothrombin time, Abnormal bone ossification, Elevated circulating hepatic transaminase... ORPHA:79324
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Joint contracture of the 5th finger, Patent foramen ovale, Mandibular prognathia, J... OMIM:618914
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Cach Syndrome
Optic atrophy, T2 hypointense thalamus, Pancreatitis, Optic neuritis, Growth delay, Hepatosplenom... ORPHA:135
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Facial palsy, EMG: myopathic abnormal... OMIM:606612
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart... OMIM:617478
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Short statur... ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Pulmonic stenosis, Umbilical hernia, Intrauteri... OMIM:600001
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:616589
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality... ORPHA:268882
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Nail dystrophy, Highly arched eyebrow, Ventricular hypertrophy, ... OMIM:300887
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Prolonged bleeding following circumcision, Epistax... ORPHA:331
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, High anterior hairline, Highly arched eyebrow, Laterall... OMIM:600987
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Biliary atresia, Pancreatic aplasia, Pulmonic stenosis, Umbilica... ORPHA:2255
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hydrocephalus, Hypertension, C... ORPHA:90065
Aorta Coarctation
Congestive heart failure, Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardio... ORPHA:1457
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrophic c... OMIM:615415
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Micrognathia, Double outlet right ventric... OMIM:231060
Loeys-Dietz Syndrome 1
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:609192
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Intra... ORPHA:169805
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Lateral ventricle dilatation, Agenesis of corpus callosum, Intrauterine grow... ORPHA:79243
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... ORPHA:567
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right ... OMIM:306955
Peters Plus Syndrome
Disproportionate short-limb short stature, Pulmonic stenosis, Umbilical hernia, Intrauterine grow... ORPHA:709
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Vertebral segmentation defect, Abnormal aortic morphology, Crypt... ORPHA:1166
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Umbilical hernia, Joint hypermobility, Intrauterine growth retardation, Ve... OMIM:601808
Kyphoscoliotic Ehlers-Danlos Syndrome
Kyphoscoliosis, Dislocated wrist, Umbilical hernia, Joint hypermobility, Bicuspid aortic valve, M... ORPHA:536545
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Retinal vascular malformation, Hepatic vascular malformations, I... OMIM:116860
Hydranencephaly
Postnatal growth retardation, Stiff neck, Optic nerve hypoplasia, Chorioretinal atrophy, Atrophic... ORPHA:2177
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Macrocytic anemia, Micrognathia, Thick eyebrow, Cryptorchidism OMIM:620071
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Atrial septal defect, Medial flaring of the eyebrow, Dysplastic pul... OMIM:612863
Rubinstein-Taybi Syndrome 1
Retrognathia, Dislocated radial head, Highly arched eyebrow, Low posterior hairline, Delayed skel... OMIM:180849
Acrocardiofacial Syndrome
Joint dislocation, Truncus arteriosus, Long eyelashes, Cryptorchidism, Camptodactyly of finger, C... ORPHA:2008
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Delayed skeletal maturation, Umbilical hernia, Bicuspid aortic valve, Join... OMIM:618164
Charge Syndrome
Delayed puberty, Highly arched eyebrow, Umbilical hernia, Intrauterine growth retardation, Abnorm... ORPHA:138
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Visceral angiomatosis, Tricuspid valve prolapse, Interrupted aortic arch, Capill... ORPHA:2396
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Highly arched eyebrow, Patent foramen ovale, Scoliosis, ... OMIM:618316
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Polyhydramnios, Knee joint hypermobility, Elbow flexion contract... ORPHA:1692
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Abnormal cardiac septum morphology, Hydrocephalus, Scoliosis, Short stat... ORPHA:250989
Joubert Syndrome 14
Optic atrophy, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Coloboma, Hy... OMIM:614424
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Jau... OMIM:608779
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Abnormal heart morphology, Colpocephaly, Ventriculomegaly, Macular ... ORPHA:2185
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani... ORPHA:94080
Lateral Meningocele Syndrome
Patent ductus arteriosus, Aortic aneurysm, Meningocele, Hydrocephalus, Scoliosis, Wormian bones, ... OMIM:130720
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hematoma, Splenic rupture, Join... ORPHA:98878
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid val... OMIM:618280
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hydrocephalus, Wide ante... OMIM:614886
Noonan Syndrome 14
Limited elbow extension, Polyhydramnios, Cubitus valgus, Aortic regurgitation, Scapular winging, ... OMIM:619745
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Dislocated radial head, Decr... ORPHA:666
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aort... OMIM:192430
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Hypertension, Abnormal ascending aorta mor... ORPHA:2299
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Abnormal cranial nerve morphology, Scoliosis, I... ORPHA:624
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Intestinal polyposis, Peripheral schwannoma, Abnormal c... ORPHA:252164
Houge-Janssens Syndrome 3
Ventriculomegaly, Atrial septal defect, Muscular ventricular septal defect, Umbilical hernia OMIM:618354
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Chromosome 9P Deletion Syndrome
Retrognathia, Perimembranous ventricular septal defect, Highly arched eyebrow, Scoliosis, Hemangi... OMIM:158170
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic nerve hypoplasia, ... OMIM:618736
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Muscular ventricular septal defect, Notched primary central incisor, Spar... OMIM:620062
Pontocerebellar Hypoplasia, Type 12
Polyhydramnios, Micrognathia, Joint contracture, Lateral ventricle dilatation OMIM:618266
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Chylothorax, Mandibular prognathia, Nemaline bodies, J... OMIM:620278
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor... ORPHA:363958
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Multiple joint dislocation, Small pituitary gland, Hyperlordosis, Cholestasis, Thyroid hypoplasia... OMIM:619503
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Left superior vena cava draining to coronary sinus, Cholelithiasis, Scoliosis, Mand... ORPHA:464738
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Abnormal optic nerve morphology, Inflammatory arteri... ORPHA:31825
Distal Deletion 10Q
Postnatal growth retardation, Spina bifida occulta, Facial diplegia, Scapular winging, Prominent ... ORPHA:96148
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Wide anterior fontanel, Patent foramen ovale, Scoliosis, Congeni... ORPHA:457279
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Ogden Syndrome
Left atrial enlargement, Premature ventricular contraction, Delayed skeletal maturation, Umbilica... OMIM:300855
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Highly arched eyebrow, Optic nerve hypoplasia, Abnormal heart morpho... ORPHA:508488
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Delayed skeletal maturation, Prolonged neonatal jaundice, Colpocephaly, Lateral ven... OMIM:210710
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Gillespie Syndrome
Ventriculomegaly, Truncus arteriosus, Aniridia OMIM:206700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Frontal hirsutism, Micrognathia, Tetralogy of Fallot, Patent ductus arteriosus... ORPHA:3304
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Aortic aneurysm, Highly arched eyebrow, Truncus arteriosus, Hyperlordosis, ... ORPHA:261330
Adams-Oliver Syndrome 2
Optic atrophy, Limb hypertonia, Hydrocephalus, Micrognathia, Low anterior hairline, Lateral ventr... OMIM:614219
Hoxha-Aliu Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous v... OMIM:620662
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Dextrocardia, Spina bifida occulta,... OMIM:613686
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Short neck, Micrognathia, Limb joint contracture, Lateral ventricle di... ORPHA:284417
Congenital Disorder Of Glycosylation, Type Iig
Postnatal growth retardation, Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Giant ... OMIM:611209
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... ORPHA:216694
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Antenatal intracerebral hemorrhage, Elevated circulating hepatic transaminase conce... OMIM:608836
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis, Patent foramen ovale, Curly hair, Synophrys, Hyposegmentation of neutrophil nucle... OMIM:620075
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Delayed cranial suture closure, Hemivertebrae, Campto... OMIM:113000
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Pontocerebellar Hypoplasia, Type 1A
Distal amyotrophy, Spinal muscular atrophy, Congenital contracture, Lateral ventricle dilatation,... OMIM:607596
Joubert Syndrome 3
Retinal dystrophy, Highly arched eyebrow, Enlarged fossa interpeduncularis, Lateral ventricle dil... OMIM:608629
Wyburn-Mason Syndrome
Retinal vascular malformation, Arteriovenous malformation, Vascular dilatation, Peripheral arteri... ORPHA:53719
Gabriele-De Vries Syndrome
Frontal upsweep of hair, Facial hypotonia, Patent foramen ovale, Cryptorchidism, Sparse eyebrow, ... OMIM:617557
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Left-to-right shunt, Atlantoaxial abnormality, Aortic va... ORPHA:1600
Snakebite Envenomation
Abnormal bleeding, Stroke, Gingival bleeding, Hypotension, Cerebral ischemia, Muscle fiber necros... ORPHA:449285
Koolen-De Vries Syndrome
Spondylolisthesis, Kyphosis, Pulmonic stenosis, Bicuspid aortic valve, Joint hypermobility, Ventr... OMIM:610443
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia, Micrognathia... OMIM:312150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Interrupted aortic arch, Hydrocephalus, Hyperextensibility of the finger joints, Capillar... ORPHA:163979
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Arterial dissection, Mitral valve prolapse, Umbilical hernia, Joint hype... ORPHA:1900
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Cyclopia, Optic nerve hypoplasia, Patent foramen ovale, Septo-optic dysplasi... OMIM:301043
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Limb hypertonia, Congenital foot contractures, Bradycardia, ... ORPHA:565624
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Kyphoscoliosis, Perimembranous ventricular septal defect, HbH hemog... OMIM:301040
3C Syndrome
Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Abnormal mitral valve morphology, Ventriculom... ORPHA:7
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Distal amyotrophy, Scoliosis, Facial palsy, Curly hair, Decreased numb... OMIM:256850
Shashi-Pena Syndrome
Retrognathia, Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Limb hypertonia,... OMIM:617190
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Tarsal synostosis, Fused cer... OMIM:157800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Interrupted aortic arch, R... ORPHA:17
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, High anterior hairline, Curly eyelashes, Scoliosis, Facial palsy... OMIM:301022
Fumarase Deficiency
Optic atrophy, Perimembranous ventricular septal defect, Polyhydramnios, Intrahepatic cholestasis... OMIM:606812
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Neurocardiofaciodigital Syndrome
Retrognathia, Double inlet left ventricle, Short stature, Dilated fourth ventricle, Sparse eyebro... OMIM:619869
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Elevated circulating alanine aminotransferase concentration... OMIM:620300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Retrognathia, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Mungan Syndrome
Perimembranous ventricular septal defect, Barrett esophagus, Tricuspid regurgitation, Abnormality... OMIM:611376
Femoral-Facial Syndrome
Limited elbow movement, Pulmonic stenosis, Absent vertebra, Ventriculomegaly, Limited shoulder mo... OMIM:134780
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Synophrys, Short stature, Delayed skeletal maturation, Congenital m... ORPHA:2332
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Anemia, Intramuscular hematoma... ORPHA:169802
Yuan-Harel-Lupski Syndrome
Talipes valgus, Decreased nerve conduction velocity, Aortic root aneurysm, Bicuspid aortic valve,... OMIM:616652
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Polyhydramnios, Multiple pterygia, Joint dislocation, Amyoplasia, Micrognathia... OMIM:253290
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Short stature, Patent ductus arteriosus, Atrial septal defect, Ve... OMIM:249670
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Dilation of Virchow-Robin spaces, Partial agenesis of the co... OMIM:619517
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Wrinkly Skin Syndrome
Kyphosis, Sparse hair, Umbilical hernia, Intrauterine growth retardation, Joint hypermobility, De... OMIM:278250
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Kyphosis, Achilles tendon ... OMIM:607155
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Leukocytosis, Lymphadenitis, Cerebral hemorrhage, Cardiomegaly, Congenital ... OMIM:618886
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Abnormal sacrum morphology, Vertebral segment... ORPHA:1926
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Nemaline b... OMIM:606842
Malan Overgrowth Syndrome
Optic disc hypoplasia, Scoliosis, Low posterior hairline, Accelerated skeletal maturation, Latera... ORPHA:420179
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Martsolf Syndrome 2
Short stature, Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation OMIM:619420
Weaver Syndrome
Limited elbow extension, Retrognathia, Patent ductus arteriosus, Scoliosis, Mandibular prognathia... OMIM:277590
Down Syndrome
Aganglionic megacolon, Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ov... OMIM:190685
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Intestinal polyposis, Lipoma, Abnormal optic nerve morphology, Delaye... ORPHA:109
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Aganglionic megacolon, Atrioventricular canal defect, ... ORPHA:210122
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Extraadrenal pheochromocytoma, Aniridia, Arachnoid hemangiomatosis, Adr... ORPHA:29072
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Hypotension, Ascites, Ep... ORPHA:99828
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Polyhydramnios, Glabellar hemangioma, Spin... OMIM:618624
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Normal pressure hydrocephalus, Kyphoscoliosis, Genu valgum, Cubitus... ORPHA:300570
Brain Small Vessel Disease 2
Growth delay, Ventriculomegaly, Intracranial hemorrhage OMIM:614483
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Low posterior hairline, Bruising suscepti... OMIM:618000
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Aortic regurgitation, Cardiomyopathy, Micrognathia, Lateral ventricle dilatation OMIM:600721
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Sacral dimple, Polyhydramnios, Hydrocephalus, Mandibular prognathia, Hypop... OMIM:613603
Carpenter Syndrome 1
Pulmonic stenosis, Umbilical hernia, Genu varum, Optic atrophy, Transposition of the great arteri... OMIM:201000
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension a... ORPHA:276621
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Joint hypermobility, Delayed eruption of teeth, Yellow-brown discolorati... OMIM:619229
Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Short stature, Micrognathia, Patent ... OMIM:300712
Perlman Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Interrupted aortic arch, Hypoplasia of the abdom... OMIM:267000
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Flexio... ORPHA:85212
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Cardiomyopathy, Nemaline bodies, Low posterior hairline, Short s... OMIM:616549
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling ORPHA:98880
Microphthalmia, Syndromic 3
Postnatal growth retardation, Butterfly vertebrae, Optic nerve hypoplasia, Coloboma, Hypothalamic... OMIM:206900
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Hemangioma, ... OMIM:263400
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Kyphosis, Thoracic scoliosis, Vascular ring, Skeletal muscle atrophy, Knee flexion... OMIM:603387
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Fused cervical vertebrae, Optic nerve hypo... OMIM:609053
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral... OMIM:142900
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Glossopharyngeal Neuralgia
Mandibular pain, Vascular dilatation, Abnormal glossopharyngeal nerve morphology, Bradycardia, Cr... ORPHA:221098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, D... OMIM:613154
Aicardi Syndrome
Lipoma, Lateral ventricle dilatation, Optic atrophy, Butterfly vertebrae, Dandy-Walker malformati... OMIM:304050
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis, Pseudopapilledema ORPHA:140989
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Mitral valve prolapse, Umbilical hernia, Laterally curv... OMIM:300166
Fetal Trimethadione Syndrome
Transposition of the great arteries, Scoliosis, Synophrys, Micrognathia, Tetralogy of Fallot, Int... ORPHA:1913
Giant Cell Arteritis
Optic atrophy, Mediastinal lymphadenopathy, Vasculitis, Arthritis, Cerebral ischemia, Hepatic fai... ORPHA:397
Methylmalonic Acidemia With Homocystinuria Type Cblf
Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Growth delay, Abnormal heart mor... ORPHA:79284
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Retrognathia, Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Per... ORPHA:91387
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ... ORPHA:1667
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Occipital encephalocele, Cervical spinal canal stenosis, Elevated circ... ORPHA:397715
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Lymphedema, Myeloprolif... ORPHA:3226
Tarp Syndrome
Optic atrophy, Micrognathia, Neonatal death, Tetralogy of Fallot, Intrauterine growth retardation... OMIM:311900
Meningioma
Neoplasm of the tongue, Neoplasm of the skin, Upper limb muscle weakness, Intracranial meningioma... ORPHA:2495
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Multip... OMIM:178110
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Cardiomyopathy, Dilated fourth ventricle, Generalized amyotrophy, Thrombocytopen... ORPHA:572798
Alg2-Cdg
Hepatomegaly, Lateral ventricle dilatation, Iris coloboma ORPHA:79326
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Lateral ventricle dilatation OMIM:618890
Cog5-Cdg
Retrognathia, Genu valgum, Abnormality of the frontal hairline, Elevated circulating hepatic tran... ORPHA:263487
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Kaposiform Lymphangiomatosis
Abnormal form of the vertebral bodies, Abnormal spleen morphology, Epistaxis, Splenomegaly, Abnor... ORPHA:464329
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Ventriculomegaly, Scoliosis OMIM:300958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Spi... OMIM:253800
Tetrasomy 15Q26
Kyphoscoliosis, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Camptodactyly,... OMIM:614846
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Retrognathia, Sacral dimple, Dilation of Virchow-Robin spaces, Polyhy... ORPHA:544488
Prader-Willi Syndrome Due To Translocation
Retrognathia, Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Pa... ORPHA:177907
Craniosynostosis 6
Spina bifida occulta, Bicoronal synostosis, Dandy-Walker malformation, Right unilambdoid synostos... OMIM:616602
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Osteopenia, Aortic regurgitat... ORPHA:2326
Phaver Syndrome
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Pterygium, P... ORPHA:2876
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Limb hypertonia, Pancytopenia, Cardiom... OMIM:606054
Coffin-Siris Syndrome 3
Delayed eruption of permanent teeth, Central diaphragmatic hernia, Dandy-Walker malformation, Sco... OMIM:614608
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Polyhydramnios, Limb hypertonia, Dilated third ventricle, Lower limb hyper... OMIM:617296
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Butterfly vertebrae, Hyperplasia of the maxilla, Scoliosis, Thoracic kyphoscoliosi... ORPHA:313892
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Intramuscular hematoma,... ORPHA:465
Frank-Ter Haar Syndrome
Kyphoscoliosis, Osteopenia, Dental malocclusion, Prominent coccyx, Wide anterior fontanel, Patent... OMIM:249420
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Bicuspid aortic valve, Joint hypermobility, Perimembranous ventricular sep... OMIM:612474
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Lateral ventricle dilatation ORPHA:306669
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Glutamine Deficiency, Congenital
Subependymal cysts, Bradycardia, Camptodactyly, Neonatal death, Flexion contracture, Lateral vent... OMIM:610015
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Vertebral compression fracture, Oste... OMIM:616507
Fryns Syndrome
Congenital diaphragmatic hernia, Aganglionic megacolon, Polyhydramnios, Abnormal aortic arch morp... ORPHA:2059
Digeorge Syndrome
Right aortic arch with mirror image branching, Ovarian cyst, Splenomegaly, Umbilical hernia, Pate... OMIM:188400
Weiss-Kruszka Syndrome
Highly arched eyebrow, Prominent metopic ridge, Dextrotransposition of the great arteries, Colpoc... OMIM:618619
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal heart morphology, Atrial... DECIPHER:39
Chromosome 1P36 Deletion Syndrome, Distal
Delayed skeletal maturation, Abnormality of the hairline, Lateral ventricle dilatation, Bicuspid ... OMIM:607872
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Left-to... OMIM:619534
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Fronta... ORPHA:261102
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Lateral ventricle dilatation, Peripheral demyelination, Axonal loss OMIM:221770
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Joint hypermobili... ORPHA:261243
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Neurocutaneous Melanocytosis
Meningocele, Dandy-Walker malformation, Melanoma, Abnormality of retinal pigmentation, Generalize... ORPHA:2481
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Cockayne Syndrome Type 3
Premature graying of hair, Elevated circulating hepatic transaminase concentration, Retinal atrop... ORPHA:90324
Distal Triplication 15Q
Retrognathia, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Campt... ORPHA:314588
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Cryptorchidism, Micrognat... OMIM:615524
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Orthostatic hypotension, Peripheral axonal neuropathy, Distal am... ORPHA:2822
Sarcosinemia
Pulmonic stenosis, Optic atrophy, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Normocytic anemia, Aortic regurgitation,... ORPHA:99147
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Abnormal heart morphology, Lateral... ORPHA:500150
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
8P23.1 Duplication Syndrome
Highly arched eyebrow, Pulmonic stenosis, Exostoses, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Myhre Syndrome
Hypertension, Aortic valve stenosis, Generalized muscle hypertrophy, Joint stiffness, Sparse hair... OMIM:139210
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep... ORPHA:391641
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Synophrys, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morph... ORPHA:284169
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Abnormal heart morphology, Intrauterine growth retardation, Neutropenia, Optic atrophy, Hydrops f... ORPHA:79282
Larsen Syndrome
Spondylolysis, Multiple carpal ossification centers, Dislocated wrist, Intrauterine growth retard... OMIM:150250
Skraban-Deardorff Syndrome
Right aortic arch, Sparse lateral eyebrow, Micrognathia, Ventriculomegaly, Ventricular septal def... OMIM:617616
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cirrhosis, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Hepatomegaly, Microvesicula... OMIM:300868
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Frontal cutaneous lipoma, Coloboma, Anterior basal encephaloc... OMIM:136760
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Sparse hair, Umbilical hernia, Fine hair, Transposition of the great arter... OMIM:280000
Ring Chromosome 21 Syndrome
Scoliosis, Short stature, Abnormal heart morphology, Thoracic hemivertebrae, Fused thoracic verte... ORPHA:1445
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Congenital muscular torticollis, Truncus arteriosus, Growth delay, Abnormality of t... ORPHA:2538
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Optic nerve hypoplasia, Low posterior hairline, Pulmonic stenosis, Delayed... OMIM:617506
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Polyhydramnios, Accessory spleen, Interrupted aortic arch, T... OMIM:164280
German Syndrome
Lymphedema, Limitation of joint mobility, Synophrys, Short stature, Camptodactyly of finger, Abno... ORPHA:2077
Koolen-De Vries Syndrome
Joint hypermobility, Hypopigmentation of hair, Abnormal dental enamel morphology, Scoliosis, Vert... ORPHA:96169
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Cryptorchidism, Short stature, Coarctation of aor... OMIM:617159
Duane-Radial Ray Syndrome
Aganglionic megacolon, Vascular dilatation, Optic disc hypoplasia, Spina bifida occulta, Pectoral... OMIM:607323
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Polyhydramnios, Retinal hemorrhage, Congenital contracture, ... OMIM:615368
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Intrauterine growth retardation, Right atrial isomerism, Ascending tubular... OMIM:270100
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Positive ... OMIM:171420
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Abnormal vena cava morphology, Patent foramen ovale, Lumbar hypertrichosis, Pulmo... ORPHA:163956
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Elevated circulating hepatic transaminase concentr... OMIM:277450
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Natal tooth, Congenital diaphragmatic hernia, Patent ductus a... ORPHA:99811
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Ventricular septal hypertrophy, Abnormal a... OMIM:615280
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Low posterior hairline, Sho... OMIM:214300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Short stature, Hematochezia, Lateral ventricle dilatation... OMIM:619575
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Muscular ventricular septal defect, Intrinsic hand muscle atrophy, Lo... OMIM:618569
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Retinal dystrophy, Retinal detachment, Wide anterior fontanel, U... ORPHA:2143
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Genu valgum, High anterior hairline, Advan... OMIM:615873
Pontocerebellar Hypoplasia, Type 13
Decreased liver function, Dandy-Walker malformation, Pleural effusion, Low posterior hairline, Lo... OMIM:618606
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Hypertension, Ventricular hypertrophy, Aortic valve stenosis, Pulmonar... ORPHA:363618
De Barsy Syndrome
Kyphoscoliosis, Delayed skeletal maturation, Sparse hair, Umbilical hernia, Intrauterine growth r... ORPHA:2962
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage, Ventriculomegaly, Craniosynostosis ORPHA:401986
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Low posterior hairline, Joint hypermobility, Craniosynostosis, Decreased r... OMIM:213980
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Osteopenia, Retrognathia, Atrioventricular canal defect, Widely ... ORPHA:2409
Distal Deletion 15Q
Postnatal growth retardation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Generalized... ORPHA:1596
Noonan Syndrome 8
Polyhydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Sho... OMIM:615355
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu... ORPHA:1780
15Q24 Microdeletion Syndrome
Postnatal growth retardation, Congenital diaphragmatic hernia, Decreased response to growth hormo... ORPHA:94065
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Elevated circulating... ORPHA:99901
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Aortic aneurysm, Arthritis, Arthro... OMIM:203500
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Scoliosis, Dilation of Virchow-Robin spaces, Flexion contracture, Lateral ventricle dilatation ORPHA:2148
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Limited elbow movement, Nail dystrophy, Sinus tachycardia, Hypertension,... OMIM:614008
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypoplasia, Short stature, Micr... OMIM:616777
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Cerebral Visual Impairment
Optic atrophy, Ischemic stroke, Hydrocephalus, Optic nerve hypoplasia, Increased cup-to-disc rati... ORPHA:447788
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurrent jo... OMIM:619472
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Polyhydramnios... OMIM:615485
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Pulmonary embolism, Gastrointestinal hemorrhage, Genu valgum, Arteriovenous malfor... ORPHA:394
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe... ORPHA:251071
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Retinal dystrophy, Pancreatic fibrosis, Hepatic fibrosis, Tricuspid regurgitatio... OMIM:263520
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Normochromic anemia, Hypertrophic card... OMIM:618775
Aarskog-Scott Syndrome
Congestive heart failure, High anterior hairline, Delayed eruption of teeth, Genu recurvatum, Cry... ORPHA:915
Tick-Borne Encephalitis
Limb pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, Elevated circulating hepatic t... ORPHA:297
Isotretinoin-Like Syndrome
Postnatal growth retardation, Bicuspid aortic valve, Abnormal aortic arch morphology, Abnormal ca... ORPHA:2306
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Aortic root aneurysm, Scoliosis, ... OMIM:617602
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Dislocated radial head, Low posterio... OMIM:245600
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Acetabular dysplasia, Medial flaring of the eyebrow, Polyhydramnios, Retinal detac... OMIM:619833
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Abnormal platelet... OMIM:273800
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Accelerated skeletal matu... ORPHA:373
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Polyhydramnios, Hepatomegaly, Diastasis recti, Pulmonary arterial h... OMIM:608149
Meacham Syndrome
Bicuspid aortic valve, Transposition of the great arteries, Accessory spleen, Common atrium, Diap... OMIM:608978
Menkes Disease
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Prolonged... ORPHA:565
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, M... ORPHA:2311
Chops Syndrome
Optic atrophy, Cervical C2/C3 vertebral fusion, Thick hair, Tracheomalacia, Patent foramen ovale,... OMIM:616368
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly... OMIM:615219
Zaki Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Patent foramen ovale, Scoliosis, Sparse scalp hai... OMIM:619648
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Cantu Syndrome
Platyspondyly, Cardiomegaly, Patent ductus arteriosus, Curly eyelashes, Congenital, generalized h... OMIM:239850
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Retrognathia, Medial flaring of the eyebrow, Broad eyebrow, Patent ... OMIM:620113
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Cholestasis, Persistent open anterior fontanelle, Colpocephaly, Splenomegaly, He... OMIM:614866
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr... OMIM:605376
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Aganglionic megacolon, Optic disc hypoplasia, Coloboma, Vertebral s... ORPHA:959
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Optic nerve hypoplasia, Scoliosis, Short stature, H... OMIM:222765
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Elevated circulating hepatic transaminase concentrat... ORPHA:244242
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Cocaine Intoxication
Ischemic stroke, Pulmonary edema, Prolonged QT interval, Supraventricular arrhythmia, Hypertensio... ORPHA:90068
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity,... OMIM:619656
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Hydrocephalus, Scoliosis, Abnormal p... ORPHA:1335
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Aspergillosis
Abnormality of the vertebral column, Stroke, Pleural effusion, Osteomyelitis, Intracranial hemorr... ORPHA:1163
Kabuki Syndrome 1
Highly arched eyebrow, Lateral ventricle dilatation, Joint hypermobility, Joint dislocation, Hydr... OMIM:147920
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic... ORPHA:3260
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Anemia, Disproportionate short-limb short stature, Unossified vertebr... OMIM:241500
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Charge Syndrome
Delayed puberty, Pulmonic stenosis, Dysplastic tricuspid valve, Umbilical hernia, Lymphopenia, De... OMIM:214800
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Bilateral Generalized Polymicrogyria
Short stature, Lateral ventricle dilatation, Growth delay ORPHA:208447
Mirage Syndrome
Anemia, Petechiae, Hydrocephalus, Scoliosis, Lymphopenia, Short stature, Decreased testicular siz... OMIM:617053
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Optic nerve hypoplasia, Scoliosis, Increased mean corpuscular volume, Kyph... ORPHA:261250
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Hyperextensibility of the fin... OMIM:609008
Holoprosencephaly
Congenital diaphragmatic hernia, Spinal cord tumor, Abnormal form of the vertebral bodies, Highly... ORPHA:2162
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Retrognathia, Polyhydramnios, Periportal fibrosis, Wide anterior... OMIM:263210
Khan-Khan-Katsanis Syndrome
Trichiasis, Sacral dimple, Anemia, Highly arched eyebrow, Patent foramen ovale, Scoliosis, Bilate... OMIM:618460
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Basal cell carcinoma, Cardiac rhabdomyoma, Odontogenic keratocysts of the jaw, Hy... OMIM:109400
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Micrognathia, Double outlet... ORPHA:2209
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Highly arched eyebrow, Patent foramen ovale, Scoliosis, Laryngot... OMIM:618454
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... ORPHA:494424
Factor Vii Deficiency
Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial... OMIM:227500
Autoinflammatory Disease, Systemic, X-Linked
Optic neuritis, B lymphocytopenia, Chorioretinitis, Hepatosplenomegaly, Cerebral hemorrhage, Oste... OMIM:301081
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Polyhydra... ORPHA:363528
20Q13.33 Microdeletion Syndrome
Sacral dimple, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Facial hypotonia, Abnor... ORPHA:261311
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Coloboma, Patent foramen ovale, Cryptorchidism, Short neck, ... OMIM:616789
Holoprosencephaly 14
Aqueductal stenosis, Cyclopia, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Wal... OMIM:619895
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Retrognathia, Perimembranous ventricular septal defect, Hepatomegal... ORPHA:83617
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Adrenal hyperplasia, Epis... ORPHA:369929