Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Nrp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased prepulse inhibition Nrp1tm1b(EUCOMM)Hmgu HET Early adult 1.88×10-05
abnormal auditory brainstem response Nrp1tm1b(EUCOMM)Hmgu HET   Early adult 6.43×10-05

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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 Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... 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 Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Lissencephaly 1
Hypoplasia of the brainstem, Cerebellar hypoplasia, Pachygyria, Agyria, Gray matter heterotopia, ... OMIM:607432
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, 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
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... OMIM:231060
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia OMIM:618572
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar hypoplasi... 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
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Cystic hygroma, Unbalanced atrioventricular canal defect, Hyp... OMIM:620294
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus, Ventricular ... ORPHA:2516
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Microlissencephaly
Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heteroto... ORPHA:1083
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Lissencephaly 3
Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Hypoplasia of ... OMIM:611603
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Pulmonary hypoplasia, Arteria lusoria, A... ORPHA:99050
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... OMIM:192430
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, Periventricular ribbo... OMIM:618677
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
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
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, P... ORPHA:401935
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Bronchiectasis, Dextrocardia OMIM:617577
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Postnatal growth retardation, Abnormal heart morphology ORPHA:91412
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus,... OMIM:617478
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria OMIM:604213
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Congenital alve... OMIM:608978
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Truncus arteriosus, Coarc... ORPHA:3426
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Verheij Syndrome
Short neck, Ventricular septal defect, Branchial cyst, Truncus arteriosus OMIM:615583
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Lissencephaly 5
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Type II lissencephaly, ... OMIM:615191
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Double aortic arch, Bronchiolitis OMIM:230900
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology... OMIM:601612
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Lower cranial nerve dysfunction, Abnormal peripheral action potential amplitude, Abnormal cranial... ORPHA:90117
Absence Of The Pulmonary Artery
Recurrent pneumonia, Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of... ORPHA:980
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegal... OMIM:620642
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Cardiomegal... ORPHA:1457
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the neck, Vent... ORPHA:1926
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Macular edema, Cardiomyopathy, Punctate vasculitis skin lesions, Wea... ORPHA:247691
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Abnormality of the pulmonary ar... ORPHA:1131
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Periventricular heterotopia, Cerebella... OMIM:616171
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Venous insufficiency, A... ORPHA:90308
Emanuel Syndrome
Aortic valve stenosis, Recurrent sinusitis, Delayed eruption of primary teeth, Truncus arteriosus... OMIM:609029
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Motor axonal neuropathy OMIM:618276
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Hypoplasia of the brainstem, Abnormality of neuronal migration, Cerebellar hypoplasia, Pachygyria... OMIM:608840
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of... ORPHA:268882
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:171680
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus callosum, ... OMIM:614833
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus arteriosus, Coarctation ... ORPHA:2008
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... OMIM:604317
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia OMIM:615544
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Aortic Arch Interruption
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... ORPHA:2299
Leber Congenital Amaurosis
Abnormality of neuronal migration, Abnormal optic disc morphology, Aplasia/Hypoplasia of the cere... ORPHA:65
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Polymicrogyria, Abnormal brainstem morphology, Pachyg... ORPHA:300573
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:1913
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Emanuel Syndrome
Aortic valve stenosis, Delayed eruption of teeth, Redundant neck skin, Truncus arteriosus, Ventri... ORPHA:96170
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, S... ORPHA:1528
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Periventricular heterotopia, Cerebella... OMIM:618273
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Hemimegalencephaly
Optic atrophy, Polymicrogyria, Oculomotor nerve palsy, Cranial nerve paralysis, Pachygyria, Gray ... ORPHA:99802
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Atrial septal defect, Hyd... OMIM:615219
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Truncus arteriosus, Aortic aneurysm, Atrial septal ... ORPHA:261330
Tetrasomy 15Q26
Hypoplastic aortic arch, Patent ductus arteriosus, Atrial septal defect OMIM:614846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Hypoplasia o... OMIM:615181
Mucolipidosis Iv
Dysplastic corpus callosum, Optic atrophy, Microcephaly, Cerebral dysmyelination OMIM:252650
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,... OMIM:178600
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Facial diplegia, Pachygyria, Cerebellar cyst, Gray matter heterotopia ORPHA:370980
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... ORPHA:244
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Superficial Siderosis
Abnormal corpus callosum morphology, Abnormality of the vestibulocochlear nerve, Dysgyria, Abnorm... ORPHA:247245
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Dextrocardia
Webbed neck, Abnormal lung lobation, Abnormal heart morphology, Situs inversus totalis, Abnormali... ORPHA:1666
Joubert Syndrome 30
Cerebellar atrophy, Polymicrogyria, Molar tooth sign on MRI, Gray matter heterotopia, Superior ce... OMIM:617622
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... OMIM:306955
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... OMIM:619424
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Frontal encephalocele, Lissencephaly, Opti... OMIM:218670
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Dysplastic corpus callosum, Cardiom... OMIM:620135
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Stillbirth OMIM:215045
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... OMIM:314390
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Abnormal heart morphology ORPHA:502430
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Abnormal brainstem ... ORPHA:370959
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Agenesis of corp... OMIM:300887
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Carpenter Syndrome 1
Optic atrophy, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arterie... OMIM:201000
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Gray matter heterot... OMIM:615960
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Hydroc... OMIM:253800
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, ... OMIM:616212
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale OMIM:616789
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Intrauterine growth retardation, Periventricular white matter hyperintens... OMIM:619737
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse OMIM:616166
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... OMIM:617877
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Short neck, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Emphysema, Aortic atheroscl... ORPHA:363618
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Tetralogy of Fallot, Patent foramen ovale, Ventricular septa... OMIM:618316
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch, Neural tube defect, Pulmonary hypoplasia ORPHA:79321
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Encephalocele, Abnor... ORPHA:991
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar... OMIM:313850
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect, Meningocele OMIM:620511
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch OMIM:301111
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos... OMIM:600638
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Septooptic Dysplasia
Short stature, Optic nerve hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... OMIM:240500
Dworschak-Punetha Neurodevelopmental Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum, Peripheral axonal neuropathy, Colpocepha... OMIM:619955
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Noonan Syndrome With Multiple Lentigines
Webbed neck, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve... ORPHA:500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar hypoplasia OMIM:300049
8Q24.3 Microdeletion Syndrome
Branchial cyst, Abnormal lung lobation, Abnormal heart morphology, Atrioventricular canal defect,... ORPHA:508488
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Even-Plus Syndrome
Severe short stature, Patent foramen ovale, Agenesis of corpus callosum, Dysplastic corpus callos... OMIM:616854
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:614823
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Branchial cyst ORPHA:435938
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Atelectasis, Abnormal lung lobation, Umbilical hernia, Tetralogy... ORPHA:567
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Atrial septal defect, Congenital muscular torticollis, Abnormal lung lobation ORPHA:2538
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Distal Triplication 15Q
Abnormal heart morphology, Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosu... ORPHA:314588
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Aortic valve stenosis, Natal tooth, Abnormal heart morphology, Ventricular septal defe... ORPHA:353281
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Webbed neck, Patent ductus arteriosus, Varicose veins ORPHA:33001
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Recurrent upper respiratory tract infections, Aortic isthmus hypoplasia, ... OMIM:180849
Thakker-Donnai Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Transposition of the great arteries, Ventricula... ORPHA:1780
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve ORPHA:449563
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Aortic aneu... ORPHA:1600
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Dandy-... OMIM:614643
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces,... ORPHA:261311
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... ORPHA:392
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology, Short neck, Abn... ORPHA:2059
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Ritscher-Schinzel Syndrome 2
Broad neck, Pulmonary artery hypoplasia, Ventricular septal defect, Low posterior hairline, Atria... OMIM:300963
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Cerebellar atrophy, 4-layered lissencephaly ORPHA:89844
Digeorge Syndrome
Interrupted aortic arch, Recurrent pneumonia, Right aortic arch with mirror image branching, Atel... OMIM:188400
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti... OMIM:620067
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607594
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Neurocutaneous Melanocytosis
Chiari malformation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Cra... ORPHA:2481
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Optic atrophy, Aplasia/Hypoplasia of the cerebellum ORPHA:2518
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Bilobed right lung, Coarctation of ... OMIM:134780
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Neonatal d... OMIM:618810
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Coarctation of aor... OMIM:612474
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral regurgitation, Mit... OMIM:175050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Recurrent respiratory ... ORPHA:99125
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Peripheral pulmonary artery stenosis, Broad neck, Aortic root aneurysm, Hypertrophic... OMIM:617506
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypert... OMIM:618280
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Congestive heart failure, Abnormal heart morphology, Cerebral ischemia, Facial capilla... ORPHA:137667
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Intrauterine growth retardation, Simplified gyral pattern, Hypoplasia of t... OMIM:617914
Phace Syndrome
Retinal vascular malformation, Aortic root aneurysm, Capillary hemangioma, Tetralogy of Fallot, A... ORPHA:42775
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... OMIM:300853
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... ORPHA:3427
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwannoma, Scle... ORPHA:252164
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Ventricular sep... ORPHA:85202
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Situs inversus totalis, Abnormal cranial nerve morphology, Agenesis of corpus ... ORPHA:990
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Walker-Warburg Syndrome
Optic atrophy, Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Cer... ORPHA:899
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung lobation, Anomalous origin of left pulmonary artery from as... ORPHA:141127
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aortic valve stenosis, Natal tooth, Abnormal heart morphology, Patent foramen ovale, V... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aortic valve stenosis, Natal tooth, Abnormal heart morphology, Patent foramen ovale, V... ORPHA:353277
De Barsy Syndrome
Delayed eruption of teeth, Prominent veins on trunk, Umbilical hernia, Ventricular septal defect,... ORPHA:2962
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy ORPHA:44
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Postnatal growth retardation, Interstitial cardiac fibrosis, Left at... ORPHA:75249
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2772
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent... OMIM:616900
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... ORPHA:402075
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Optic disc pallor, Gray matter heterotopia, Polymicrogyria OMIM:617201
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Webbed neck, Pulmonary artery hypoplasia, Aortic root aneurys... OMIM:620025
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, M... OMIM:617281
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Charge Syndrome
Webbed neck, Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Right aortic a... OMIM:214800
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Right aortic arch, Branchial anomaly, Ventricular s... OMIM:164210
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Ventricular ... OMIM:616777
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:620113
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology OMIM:300957
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Common atrium, Unbalanced atrioventricular canal defect, Primum atrial septal de... OMIM:619534
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Postnatal growth retardation, Intrauterine growth retardation, Dysplastic... ORPHA:357058
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... ORPHA:391641
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary a... OMIM:280000
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Patent foramen ovale, Dysplastic corpus callosum, ... OMIM:619179
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis OMIM:610205
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly, Growth delay OMIM:618010
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of t... ORPHA:2524
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Cerebellar hypoplasia, Hypoplasia of the brainstem ORPHA:255138
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Craniofacioskeletal Syndrome
Interrupted aortic arch, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300712
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Vici Syndrome
Gray matter heterotopia, Optic atrophy, Hypoplasia of the pons, Cerebellar hypoplasia ORPHA:1493
Cardiomyopathy, Familial Restrictive, 3
Right atrial enlargement, Restrictive cardiomyopathy, Myocardial sarcomeric disarray OMIM:612422
Glutathionuria
Gray matter heterotopia OMIM:231950
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Visceral angiomatosis, Retinal telangiectasia, Gastr... ORPHA:774
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Double outlet right ventricle, Pulmonary artery a... OMIM:301056
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cystic hygroma, Aortic valve stenosis, Hypoplastic left heart, Umbilical hernia, Mitral atresia, ... OMIM:618164
Adams-Oliver Syndrome
Arteriovenous malformation, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Encephaloce... ORPHA:974
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral arteriovenous malformation, Cerebral... OMIM:600376
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia, Emphysema, Recurrent... OMIM:219100
Telangiectasia, Hereditary Hemorrhagic, Type 4
Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc... OMIM:610655
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Dandy-Walker malformation OMIM:164180
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Bilateral vestibular schwannoma, Palmar neurofibroma OMIM:162260
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Chime Syndrome
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... ORPHA:3474
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern OMIM:620001
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Aganglionic megacolon, Molar tooth sign on MRI, Cerebellar ver... ORPHA:2318
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Developmental And Epileptic Encephalopathy 111
Hypoplastic left heart, Umbilical hernia, Biventricular hypertrophy, Pulmonary artery stenosis, R... OMIM:620504
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Short stature, Focal white matter lesions ORPHA:557003
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Umbilical hernia, Generaliz... OMIM:208050
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... ORPHA:17
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Transudative pleural effusion ORPHA:284227
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... ORPHA:163979
Recombinant 8 Syndrome
Tetralogy of Fallot, Abnormality of the neck, Ventricular septal defect, Low posterior hairline, ... ORPHA:96167
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... OMIM:611812
Immunodeficiency 49
Pulmonary artery stenosis, Natal tooth, Umbilical hernia OMIM:617237
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ovale, Ventricular... ORPHA:477817
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Abnormality of the pulmonary vasculature, Aplasia/Hy... ORPHA:2092
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Neu-Laxova Syndrome 1
Hydranencephaly, Patent foramen ovale, Neonatal death, Ventricular septal defect, Transposition o... OMIM:256520
Mosaic Trisomy 1
Increased nuchal translucency, Ventricular septal defect, Coarctation of aorta, Pulmonary artery ... ORPHA:1692
Juvenile Polyposis Syndrome
Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intest... ORPHA:2929
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Right atrial enlargement, Hypoplasia of the corpus callosum, Mitral valve ... ORPHA:555877
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... ORPHA:488627
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Kinked brainstem, Dandy... OMIM:617822
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... OMIM:192350
Joubert Syndrome
Abnormality of neuronal migration, Aganglionic megacolon, Cerebellar vermis hypoplasia, Polymicro... ORPHA:475
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Dysplastic corpus callosum, Pachy... ORPHA:2328
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Ventricular septal defect, Dysplastic corpus callosum, Microcephaly, Dyspla... OMIM:619103
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Noonan Syndrome 2
Webbed neck, Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increase... OMIM:605275
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Vent... OMIM:619503
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Patent foramen ovale, Ventricular septal defect, Short neck, Pulmonary artery atresi... OMIM:616894
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Right ventricular hypertrophy, Patent foramen ovale OMIM:616028
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... OMIM:619329
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Abnormal cerebral vascular morphology, Abnorma... ORPHA:79474
Peters Plus Syndrome
Hypoplastic left heart, Webbed neck, Umbilical hernia, Abnormality of the pulmonary artery, Short... ORPHA:709
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Short stature OMIM:619423
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Umbilical hernia, Dilatation ... OMIM:300989
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... OMIM:164280
Coffin-Siris Syndrome 4
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:614609
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dyspla... ORPHA:314679
Microphthalmia, Syndromic 2
Aortic valve stenosis, Delayed eruption of teeth, Umbilical hernia, Persistence of primary teeth,... OMIM:300166
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Redun... OMIM:190685
3C Syndrome
Abnormality of neuronal migration, Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Dandy-Wal... ORPHA:7
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Dysplastic corpus callosum, Perime... ORPHA:363444
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... OMIM:614294
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertrophic cardiomyopathy, Art... ORPHA:3342
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria ORPHA:2065
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity... OMIM:614437
Pallister-Hall Syndrome
Natal tooth, Abnormal lung lobation, Neonatal death, Ventricular septal defect, Preductal coarcta... OMIM:146510
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria OMIM:617397
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Molar tooth sign on MRI OMIM:617563
Chiari Malformation Type Ii
Gray matter heterotopia, Chiari malformation OMIM:207950
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Cerebellar hypopla... ORPHA:2671
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... OMIM:614976
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Cavum septum pellucidum, Short stature, Right atrial enlargement, Growth... OMIM:614008
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Restrictive Dermopathy
Transposition of the great arteries, Atrial septal defect, Dextrocardia, Patent ductus arteriosus... ORPHA:1662
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova... OMIM:301043
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Left ventricular hypertrophy, Left atrial enlargement ORPHA:57777
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick... ORPHA:98889
Parkes Weber Syndrome
Lower limb muscle weakness, High-output congestive heart failure, Bounding pulse, Subarachnoid he... ORPHA:90307
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Marfan Syndrome
Arterial dissection, Spontaneous pneumothorax, Aortic root aneurysm, Aortic dissection, Pulmonary... ORPHA:558
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Galloway-Mowat Syndrome 1
Optic atrophy, Cerebellar atrophy, Hypoplasia of the brainstem, Abnormality of neuronal migration... OMIM:251300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Periventricular heterotopia, Cerebellar hypoplasia, Chiari type I malformation, Da... OMIM:618476
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, ... ORPHA:96334
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Zttk Syndrome
Optic atrophy, Intrauterine growth retardation, Periventricular leukomalacia, Hypoplasia of the c... OMIM:617140
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Right ventricular hypertrophy, Ventricul... OMIM:312870
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the cerebe... ORPHA:1454
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Arima Syndrome