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Gene: Nrp1 MGI:106206

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Gene Summary

Name:
neuropilin 1
Synonyms:
NP-1,  Npn1,  NPN-1,  Neuropilin-1

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nrp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal auditory brainstem response Nrp1tm1b(EUCOMM)Hmgu HET   Early adult 6.33×10-05
decreased prepulse inhibition Nrp1tm1b(EUCOMM)Hmgu HET Early adult 1.88×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

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

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Nrp1 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 Nrp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly... OMIM:607432
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI OMIM:614173
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia OMIM:618572
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Gray matter heterotopia, Hypoplasia of the brainstem, Dysgyria, Cerebellar hypopla... ORPHA:352682
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria OMIM:615411
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal lung lobation, Abnormal aortic morphology, Webbed... ORPHA:2516
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive... OMIM:618677
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Lissencephaly 3
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Pachygyria, Gray matter hetero... OMIM:611603
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... ORPHA:99050
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Cerebellar vermis atrophy OMIM:618185
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Bronchiectasis, Situs inversus totalis OMIM:617577
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Marcus-Gunn Syndrome
Postnatal growth retardation, Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... ORPHA:1166
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus art... OMIM:601186
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Lissencephaly 5
Cerebellar vermis hypoplasia, Subcortical band heterotopia, Optic atrophy, Gray matter heterotopi... OMIM:615191
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Gaucher Disease, Type Ii
Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:300067
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth, Aortic v... OMIM:615415
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormality of the neck, Abnor... ORPHA:1926
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology, Abnormality ... ORPHA:1131
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Optic... OMIM:616171
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... ORPHA:90308
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Emanuel Syndrome
Thickened nuchal skin fold, Recurrent respiratory infections, Torticollis, Ventricular septal def... OMIM:609029
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Motor axonal neuropathy, Microcephaly OMIM:618276
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Lissencephaly Due To Tuba1A Mutation
Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o... ORPHA:171680
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Abnormality of neuronal migration, Hypoplasia of the brainstem, Cerebellar hypoplas... OMIM:608840
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Gray matter heterotopia, Facial diplegia, Pachygyria, Cerebellar cyst ORPHA:370980
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... OMIM:604317
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... OMIM:600001
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, M... OMIM:614833
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Cerebral atrophy, Growth delay, Agenesis of corpus callosum OMIM:274270
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho... ORPHA:300573
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cere... ORPHA:65
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... ORPHA:1528
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o... OMIM:618273
Emanuel Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Redundant neck skin, Ventricular sep... ORPHA:96170
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasi... OMIM:615181
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Recurrent respiratory infections, Ventricular septal defect, Atrial septal def... ORPHA:261330
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... OMIM:615219
Mucolipidosis Iv
Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly OMIM:252650
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morphology, Congenit... ORPHA:1666
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Pulmonary aterial intim... OMIM:178600
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Superficial Siderosis
Abnormality of the brachial nerve plexus, Dysgyria, Abnormality of the vestibulocochlear nerve, A... ORPHA:247245
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... ORPHA:244
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Agenesis ... OMIM:218670
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Neonatal death, Atrioventricula... OMIM:314390
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... OMIM:620135
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargement, Myofiber di... OMIM:619424
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplas... OMIM:617622
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... ORPHA:370959
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Short stature, Microcephaly, Hypoplasia of the corpus... OMIM:300887
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Spina bifida occulta, Transpo... OMIM:201000
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria ORPHA:99802
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse... OMIM:616212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... OMIM:253800
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... OMIM:619737
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck ORPHA:2001
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... ORPHA:363618
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri... OMIM:617877
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Alg3-Cdg
Neural tube defect, Pulmonary hypoplasia, Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary artery hypoplasia, Ab... ORPHA:991
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Thoracoabdominal Syndrome
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... OMIM:600638
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... ORPHA:1330
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Atrioventricular cana... ORPHA:508498
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Coarct... OMIM:618164
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Septooptic Dysplasia
Agenesis of corpus callosum, Absent septum pellucidum, Short stature, Optic nerve hypoplasia OMIM:182230
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr... OMIM:618316
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Hype... ORPHA:500
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of... OMIM:619955
Periventricular Nodular Heterotopia 1
Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration OMIM:300049
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... ORPHA:508488
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Retinal... ORPHA:567
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Patent foramen ovale, Atrial septal defect, Age... OMIM:616854
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... ORPHA:314588
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... OMIM:270100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve ORPHA:449563
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Natal tooth, Bicuspid aortic valve, Pneumonia, Ventricular sept... ORPHA:353281
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Respiratory tract infection, Patent foramen ovale, Paten... OMIM:180849
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus, Abnormal lung lobation ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Gray matter h... OMIM:614643
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature, Webbed neck ORPHA:33001
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... ORPHA:261311
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pulm... ORPHA:2257
Fryns Syndrome
Thickened nuchal skin fold, Short neck, Abnormal aortic arch morphology, Abnormal aortic morpholo... ORPHA:2059
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Optic atrophy, Abnormality of neuronal migration, Macrogy... ORPHA:899
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration ORPHA:2518
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Interrupte... OMIM:188400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ... OMIM:612474
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmonary artery hyp... OMIM:300963
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Dysplastic corpus call... OMIM:618810
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Short neck, Patent foramen ovale, Patent ductus arteriosus, Hypoplasti... OMIM:617506
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Abnormal hear... ORPHA:42775
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... OMIM:617914
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Abnorma... ORPHA:167635
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Cerebral arteriovenous malformation, Facial capillary hemangioma, Abnormality of the m... ORPHA:137667
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Agenesis of corpus callosum, Holoprosencephaly, Abnormal cranial nerve mo... ORPHA:990
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Ventricular septal defect, Patent ... ORPHA:2962
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... ORPHA:2255
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of neuronal migration ORPHA:44
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... ORPHA:141127
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Natal tooth, Bicuspid aortic valve, Pneumonia, Ventricular sept... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Natal tooth, Bicuspid aortic valve, Pneumonia, Ventricular sept... ORPHA:353277
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Postnatal growth retardation, Interstitial cardiac fibrosis, Hypertrophi... ORPHA:75249
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Optic disc pallor OMIM:617201
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Subependymal Nodular Heterotopia
Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration ORPHA:101030
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Charge Syndrome
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... OMIM:214800
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hydrocephalus, Basal ganglia ca... OMIM:617281
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... OMIM:164210
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Intellectual Developmental Disorder, X-Linked 12
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormality of neuronal migration OMIM:300957
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa... OMIM:619534
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of ... OMIM:619179
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... OMIM:280000
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia ORPHA:255138
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Postnatal growth retardation, Dysplastic corpus callosum, Secondary microc... ORPHA:357058
Vici Syndrome
Hypoplasia of the pons, Gray matter heterotopia, Optic atrophy, Cerebellar hypoplasia ORPHA:1493
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... ORPHA:2524
Glutathionuria
Gray matter heterotopia OMIM:231950
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement OMIM:612422
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Abnormality of neuronal migration, Dan... ORPHA:2481
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Palate t... OMIM:600376
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... ORPHA:565612
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Dandy-Walker malformation OMIM:164180
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aganglionic megacolon, Abnormality of neur... ORPHA:2318
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... ORPHA:163979
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Patent ductus arteriosus, Coarctation of aorta, Interrupted aor... ORPHA:17
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Arteriovenous malformation, Pulmonary artery ... ORPHA:974
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Short stature, Focal white matter lesions ORPHA:557003
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Doub... OMIM:301056
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid aortic valve, ... ORPHA:477817
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, Transposition of t... OMIM:256520
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Kinke... OMIM:617822
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... ORPHA:488627
Joubert Syndrome
Cerebellar vermis hypoplasia, Polymicrogyria, Aganglionic megacolon, Abnormality of neuronal migr... ORPHA:475
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partia... OMIM:619103
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Tetralogy of Fallot, Pachygyria, Polymicro... ORPHA:2328
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia/Hypoplasia of the lung... ORPHA:2092
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Right atrial enlargement, Bicuspid aortic valve, Hypoplasia of the corpus callosum, Mitral valve ... ORPHA:555877
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Full Schwannomatosis
Schwannoma, Peripheral schwannoma, Bilateral vestibular schwannoma ORPHA:93921
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature ORPHA:284227
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Atypical Werner Syndrome
Prominent superficial veins, Abnormal cerebral vascular morphology, Aortic valve calcification, P... ORPHA:79474
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Peripheral axonal neuropathy, Ventricular septal defect, Mitral atres... OMIM:619503
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Short stature, Secondary microcephaly OMIM:619423
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Pallister-Hall Syndrome
Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preduct... OMIM:146510
Peters Plus Syndrome
Short neck, Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morpholog... ORPHA:709
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Mosaic Trisomy 1
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Pulmonary hypopla... ORPHA:1692
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Cerebrofacioarticular Syndrome
Short stature, Microcephaly, Dysplastic corpus callosum, Abnormal heart morphology, Pulmonic sten... ORPHA:314679
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement OMIM:616028
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Neu-Laxova Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2671
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration, Dandy-Wal... ORPHA:7
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Palate t... OMIM:187300
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Short neck, Patent ductus arteriosus, Webbed ... OMIM:616894
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Muscular ventricular septal defect, Abnormal heart morphology, Perime... ORPHA:363444
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... OMIM:600802
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Gray matter heterotopia OMIM:617563
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... OMIM:614609
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:2211
Chiari Malformation Type Ii
Gray matter heterotopia, Chiari malformation OMIM:207950
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Desmosterolosis
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... ORPHA:35107
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... ORPHA:1662
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary ... OMIM:614437
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... OMIM:301043
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Optic atrophy, Chiari type I malformation, Cerebellar hypoplasia, Da... OMIM:618476
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... ORPHA:98889
Nestor-Guillermo Progeria Syndrome
Short stature, Left atrial enlargement, Growth delay, Cavum septum pellucidum, Right atrial enlar... OMIM:614008
Parkes Weber Syndrome
Hemangiomatosis, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, High-output conges... ORPHA:90307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of cerebellar vermis, Optic nerve dysplasia, Gray matter heterotopia, Hypoplasia of the ... OMIM:615287
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Short neck, Large placenta, Pulmonary artery sten... ORPHA:96334
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Right atrial enlargement, Left atrial enlargement, Cardiomegaly ORPHA:57777
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Descending aortic dissection, Meningocele, ... ORPHA:558
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Cardiomyopathy, Total anomalo... OMIM:312870
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Zttk Syndrome
Short stature, Ventricular septal defect, Dysplastic corpus callosum, Optic atrophy, Growth delay... OMIM:617140
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the cerebellum, Optic disc coloboma, Abnormal... ORPHA:1454
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... OMIM:157800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Pachy... ORPHA:468631
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration ORPHA:192
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... ORPHA:572
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Juvenile gastrointestinal polyposi... ORPHA:2929
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased nerve conduction velocity, Peripheral hypomyelination, Sen... OMIM:618733
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Muscular ventricular septal defect, Hypoplasia of the corpus callosum... OMIM:618569
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Mitral valve... ORPHA:371428
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Gray matter heterotopia, Polymicrogyria OMIM:619775
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Aortic arch aneurysm, Patent ductus arteriosus, Cardiomyopathy, Aortic... OMIM:135500
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Myocardial infarction OMIM:615812
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... OMIM:616652
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Periventricular heterotopia OMIM:619833
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Cerebellar vermis atrophy ORPHA:163681
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the brainstem, Dandy-Walker malformation, Delayed peripher... OMIM:605039
Schwannomatosis, Vestibular
Unilateral vestibular schwannoma, Peripheral schwannoma, Occasional neurofibromas, Bilateral vest... OMIM:101000
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... ORPHA:31150
Charge Syndrome
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Abnormal cardiac septu... ORPHA:138
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... ORPHA:35078
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Left ven... ORPHA:99106
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ... OMIM:613179
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Right atrial enlargement, Mitral valve prolapse OMIM:620233
Keutel Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery hypoplasia, Pul... OMIM:245150
Aicardi Syndrome
Cerebellar vermis hypoplasia, Optic disc coloboma, Optic atrophy, Gray matter heterotopia, Chiari... OMIM:304050
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti... OMIM:300967
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Proportionate short stature, Dysplastic corpus callosum, Optic atrophy, S... ORPHA:500150
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... ORPHA:548
Atrial Septal Defect, Coronary Sinus Type
Right ventricular dilatation, Anomalous pulmonary venous return, Unroofed coronary sinus, Right a... ORPHA:99104
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Scapular winging, Bicuspid aortic valve, Myocardial infarction, Cerebral arteriov... OMIM:150230
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defe... ORPHA:261552
Acromelic Frontonasal Dysostosis
Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Optic nerve h... OMIM:603671
Holoprosencephaly 14
Cerebellar atrophy, Periventricular heterotopia, Aqueductal stenosis, Partial absence of cerebell... OMIM:619895
Orotic Aciduria
Impaired T cell function OMIM:258900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valv... ORPHA:261537
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Short neck OMIM:601559
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Abnormality of neuronal migration ORPHA:2754
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Microcephaly, Dysplastic corpus callosum, Intrauterine growth retardation, Spina b... OMIM:151050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology ORPHA:1830
Down Syndrome
Aganglionic megacolon, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:190685
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Abnormal brainstem morphology, Abnormality of neuronal migration ORPHA:464311
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Marfan Syndrome
Bicuspid aortic valve, Emphysema, Pneumothorax, Mitral annular calcification, Mitral valve prolap... OMIM:154700
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Cerebell... ORPHA:75857
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Polymicrogyria, Optic disc pallor OMIM:214100
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Short neck, Abnormal cardiac se... ORPHA:3310
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... OMIM:618820
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria OMIM:247200
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage ORPHA:93126
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Periventricular heterotopia ORPHA:261250
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Abnormal left ventricle morphology, Ebstei... ORPHA:466791
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration, Dandy-Wal... ORPHA:2162
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Atrial Septal Defect, Ostium Secundum Type
Right ventricular dilatation, Abnormal mitral valve morphology, Right atrial enlargement ORPHA:99103
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly ORPHA:1677
Maternal Phenylketonuria
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Hypoplastic left hear... ORPHA:2209
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Periventricular heterotopia, Optic disc coloboma, Simplified gyral ... OMIM:615948
Legius Syndrome
Short stature, Neurofibroma, Mitral valve prolapse, Vestibular schwannoma, Pulmonic stenosis ORPHA:137605
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena... ORPHA:163956
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Plexiform neurofibroma OMIM:276300
Costello Syndrome
Short stature, Ventricular septal defect, Hydrocephalus, Cerebral atrophy, Mitral valve prolapse,... OMIM:218040
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Abnormal autonomic nervous system physiology ORPHA:453499
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Right atrial enlargement ORPHA:70591
Vici Syndrome
Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... OMIM:242840
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria OMIM:618918
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Mowat-Wilson Syndrome
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosu... ORPHA:2152
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis OMIM:618223
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration, Cerebellar cyst OMIM:311200
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia, Optic nerve hypoplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia, Optic nerve hypoplasia ORPHA:352665
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation OMIM:606721
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microlis... OMIM:210710
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Witteveen-Kolk Syndrome
Short stature, Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Growth delay, Hypopl... OMIM:613406
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Fontaine Progeroid Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular het... OMIM:612289
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Aganglionic megacolon, Periventricular heterotopia, Chiari type I malformatio... OMIM:270400
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation, Periventricular het... ORPHA:434179
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Dandy-Walker malformation OMIM:236680
Doors Syndrome
Double outlet right ventricle, Spina bifida occulta, Optic atrophy ORPHA:79500
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia OMIM:606170

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 Nrp1

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 Nrp1.

No publications found that use IMPC mice or data for Nrp1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nrp1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nrp1em1(IMPC)Ccpcz Exon Deletion Mice
Nrp1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nrp1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Nrp1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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