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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
decreased prepulse inhibition Nrp1tm1b(EUCOMM)Hmgu HET Early adult 1.88×10-05
abnormal auditory brainstem response Nrp1tm1b(EUCOMM)Hmgu HET   Early adult 6.33×10-05
preweaning lethality, complete penetrance Nrp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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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

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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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, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... 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
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, 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
Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Lissencephal... OMIM:607432
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Pulmonary artery atresia ORPHA:1208
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Hypoplasia of the brainstem, Optic atrophy, Cerebellar hypoplasia, Type ... ORPHA:352682
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia OMIM:618572
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
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 Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria OMIM:615411
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Abnormal ... ORPHA:2516
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... ORPHA:1354
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Webbed neck, Truncus arteriosus, Ventricular septal defect OMIM:601355
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Lissencephaly 3
Gray matter heterotopia, Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lisse... OMIM:611603
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... ORPHA:99050
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta OMIM:616954
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, 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, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Microlissencephaly
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... ORPHA:1083
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... ORPHA:185
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Congenital Tracheomalacia
Patent ductus arteriosus, Cardiomegaly, Pneumothorax, Ventricular septal defect, Bronchiectasis, ... ORPHA:95430
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... OMIM:192430
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... ORPHA:401935
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Cerebellar hypoplasia, Lissencephaly, Periventricular ribbonlike het... OMIM:618677
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... OMIM:601927
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Decreased circulating IgG2 level... OMIM:615897
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Marcus-Gunn Syndrome
Abnormal heart morphology, Postnatal growth retardation, Abnormal fifth cranial nerve morphology ORPHA:91412
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia OMIM:618185
Truncus Arteriosus
Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ventricular septal defect, I... ORPHA:3384
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Optic atrophy OMIM:613162
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septa... OMIM:617478
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:604213
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Meacham Syndrome
Patent ductus arteriosus, Neonatal death, Cardiac total anomalous pulmonary venous connection, Ve... OMIM:608978
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Bilateral lung agenesis, Agenesis of pulmonary vess... OMIM:601186
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Lissencephaly 5
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Gray matter heterotopia, Optic atr... OMIM:615191
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... ORPHA:1457
Gaucher Disease, Type Ii
Double aortic arch, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Agyria, Pachygyria ORPHA:1084
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Bilateral lung agenesis, Coarctatio... OMIM:601612
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101029
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria OMIM:300067
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect OMIM:147770
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Si... OMIM:615415
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
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
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Absence Of The Pulmonary Artery
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Bronchiectasis,... ORPHA:980
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of corpus callosum, Po... ORPHA:250972
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Diabetic Embryopathy
Abnormal aortic morphology, Spinal dysraphism, Abnormality of the neck, Ventricular septal defect... ORPHA:1926
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Ventricular ... ORPHA:290
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De... ORPHA:229
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Abnormality of the pulmonary ar... ORPHA:1131
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... ORPHA:3400
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial septal defect, Venous insuf... ORPHA:90308
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Hypo... OMIM:616171
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cardiomyopathy, Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phenomen... ORPHA:247691
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori... ORPHA:2326
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Delayed eruption of primary teeth, Ventricular sept... OMIM:609029
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Fibromuscular Dysplasia, Arterial
Aortic dissection, Arterial fibromuscular dysplasia, Stroke OMIM:135580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Hypoplasia of the brainstem, Abnormality of neuronal migration, Cerebellar hypoplasia, Pachygyria... OMIM:608840
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Motor axonal neuropathy OMIM:618276
Lissencephaly Due To Tuba1A Mutation
Perisylvian polymicrogyria, Aganglionic megacolon, Agyria, Dysgenesis of the basal ganglia, Lisse... ORPHA:171680
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... ORPHA:268882
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Cerebellar cyst, Facial diplegia, Pachygyria, Cerebellar atrophy ORPHA:370980
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Mitral stenosis, Atrial septal defect, Coarctation... ORPHA:2008
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Complete or near-complete absence o... OMIM:607271
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... OMIM:208530
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... ORPHA:2299
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... OMIM:604317
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Abnormal brainstem morphology, Lissencephaly... ORPHA:300573
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormal optic disc morphology, Abnormality of neuro... ORPHA:65
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Lissencephaly, Optic nerve hypoplasia, Microcephaly, Mild short stature, Dysplasti... OMIM:614833
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Delayed eruption of teet... ORPHA:96170
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Primary microcephaly OMIM:618010
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Hypoplasia of the brainstem, Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral... OMIM:618273
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Optic ... OMIM:615181
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Recurrent r... ORPHA:261330
Phaver Syndrome
Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo... ORPHA:2876
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly, Optic atrophy OMIM:252650
Dextrocardia
Abnormal pulmonary situs morphology, Webbed neck, Abnormal lung lobation, Abnormality of the pulm... ORPHA:1666
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Stillbirth OMIM:215045
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Microcephaly... ORPHA:1528
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... OMIM:178600
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... OMIM:613834
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Atrial situs ambiguous, Anomalous pulmonary venous ... ORPHA:244
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... OMIM:306955
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Card... OMIM:620135
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Frontal encepha... OMIM:218670
Superficial Siderosis
Abnormality of the brachial nerve plexus, Dysgyria, Abnormal corpus callosum morphology, Abnormal... ORPHA:247245
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Hydrocephalus, Dextrocardia, Persistent left superior vena cava, N... OMIM:314390
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Hyper... OMIM:619424
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Gray matter heterotopia, Hypoplas... ORPHA:370959
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... OMIM:612946
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Joubert Syndrome 30
Gray matter heterotopia, Molar tooth sign on MRI, Superior cerebellar dysplasia, Cerebellar atrop... OMIM:617622
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Optic atrophy, Atrial septal defect, Spina b... OMIM:201000
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... ORPHA:231160
Hemimegalencephaly
Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria ORPHA:99802
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Cerebellar dysplasia, Cerebellar cyst, Cerebel... OMIM:615960
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... OMIM:616212
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Optic atrophy, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, Myocar... OMIM:253800
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Short neck, Hypoplastic left heart ORPHA:2001
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum... OMIM:619737
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Intracranial hemorr... ORPHA:363618
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Transposition of the great arteries, Pulmonic stenosis, Perimembranous vent... OMIM:617877
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr... OMIM:212093
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy, Pulmonary hypoplasia, Neural tube defect ORPHA:79321
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Pagod Syndrome
Meningocele, Abnormal aortic morphology, Encephalocele, Spina bifida, Abnormality of the pulmonar... ORPHA:991
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A... OMIM:618496
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Transposition of the great ... OMIM:313850
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum,... OMIM:600638
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Vascular dilatation, Webbed neck, Abnormal mitral valve morphology... ORPHA:500
Septooptic Dysplasia
Absent septum pellucidum, Short stature, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:182230
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Recur... OMIM:618316
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callos... OMIM:619955
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Umbilical hernia, Mitral atresia, Redund... OMIM:618164
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration, Cerebellar hypoplasia OMIM:300049
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Pulmonary artery dilatation, Pleural effusion, Pulmonary artery st... OMIM:265380
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti... OMIM:614823
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Meningocele, Atelectasis, Truncus arteriosus, Ventricular septal defect... ORPHA:567
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Reduced antigen-specific T cell proliferation, Increased circula... OMIM:617241
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma OMIM:603641
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect, Severe short stature, Dysplastic corpus callosum, Age... OMIM:616854
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal d... ORPHA:508488
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Arrhinencephaly, Abnormal lung lobation, Atrial septal defect, Congenital mus... ORPHA:2538
Thakker-Donnai Syndrome
Transposition of the great arteries, Communicating hydrocephalus, Tetralogy of Fallot, Ventricula... ORPHA:1780
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Eosinophilia, Abnormal fifth cranial nerve morphology ORPHA:449563
Distal Tetrasomy 15Q
Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, Hypoplastic aortic arch, Ab... ORPHA:314588
Monosomy 18Q
Patent ductus arteriosus, Absence of the pulmonary valve, Secundum atrial septal defect, Aortic a... ORPHA:1600
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Respiratory tract infection, Ventricular septal d... OMIM:180849
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter... OMIM:600460
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Webbed neck, Varicose veins, Abnormality of the pulmonary vasculature ORPHA:33001
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Hypoplasia of the brainstem, Subcortical heterotopia, Cerebellar hypopla... OMIM:614643
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Atrial septal defect, Dilation of... ORPHA:261311
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Primary Pulmonary Hypoplasia
Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Dextrocardia, Recurrent respir... ORPHA:2257
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Fryns Syndrome
Abnormal aortic morphology, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Abnormal ao... ORPHA:2059
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Recurrent respiratory infections, Natal tooth, Vascular ring, Ventricul... ORPHA:353281
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Short stature, Simplified gyral pattern, Arrhinencephaly, Optic nerve hypo... OMIM:617914
Cardiomyopathy, Dilated, 2D
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... OMIM:619371
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Walker-Warburg Syndrome
Abnormality of neuronal migration, Optic atrophy, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:899
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Optic atrophy ORPHA:2518
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Situs inve... ORPHA:1908
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... OMIM:612474
Digeorge Syndrome
Patent ductus arteriosus, Atelectasis, Truncus arteriosus, Ventricular septal defect, Interrupted... OMIM:188400
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Pneumoth... ORPHA:91387
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Optic atrophy OMIM:615219
Scleromyxedema
Abnormality of the neck, Transient ischemic attack, Abnormal coronary artery morphology, Abnormal... ORPHA:167635
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Cardiac total anomalous ... ORPHA:99125
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Neonatal death, Peripheral axonal neuropathy, Dysplastic corpus call... OMIM:618810
Phace Syndrome
Aortic root aneurysm, Retinal vascular malformation, Abnormal cardiac septum morphology, Cerebral... ORPHA:42775
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Holoprosencephaly, Situs inversus totalis, Agenesis of corpus ... ORPHA:990
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Gastrointestinal carcinoma, Cerebral arteriovenous malformation, Mitral valve pro... OMIM:175050
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Cerebral arteriovenous malformation, Congestive heart failure,... ORPHA:137667
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Webbed neck, Broad neck, Ve... OMIM:617506
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Cor... OMIM:617168
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
De Barsy Syndrome
Patent ductus arteriosus, Ventricular septal defect, Delayed eruption of teeth, Recurrent sinopul... ORPHA:2962
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... OMIM:300853
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:141127
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy ORPHA:44
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... OMIM:620067
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... ORPHA:1596
Phace Association
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Ven... OMIM:606519
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... ORPHA:402075
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... ORPHA:2255
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Patent foramen ovale, Recurrent respiratory infections, Natal tooth, Va... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Patent foramen ovale, Recurrent respiratory infections, Natal tooth, Va... ORPHA:353277
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria ORPHA:101030
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial... ORPHA:75249
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Periventricular leukomalacia, Small basal gangl... OMIM:616900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Peripheral p... OMIM:280000
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Optic disc pallor, Periventricular nodular heterotopia, Polymicrogyria OMIM:617201
Charge Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Webbed neck, Ventricular septal defect, ... OMIM:214800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Patent foramen ovale, Unbalanced atriove... OMIM:619534
Feingold Syndrome Type 1
Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v... ORPHA:391641
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Craniofacial Microsomia
Patent ductus arteriosus, Branchial anomaly, Ventricular septal defect, Pulmonary hypoplasia, Coa... OMIM:164210
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgE, Impaired Ig class switch recombination, I... OMIM:308230
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Pneumothorax, Carotid artery dilatation, Aor... OMIM:619472
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Webbed neck, Aortopulmonary window, Ventricular septal defect, Pulmonary hy... OMIM:620025
Femoral-Facial Syndrome
Pulmonic stenosis, Truncus arteriosus, Ventricular septal defect OMIM:134780
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:601859
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Ventricular septal defect, Atrial septal defect OMIM:300712
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia OMIM:300957
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the brainstem, Periventricular heterotopia, Pachygyria, Cerebellar hypoplasia ORPHA:255138
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pachygyria, Dysplastic corpu... ORPHA:357058
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Short stature, Simplified gyral pattern, Microcephaly, Pachygyria, Hypoplas... OMIM:619179
Vici Syndrome
Gray matter heterotopia, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia ORPHA:1493
Seckel Syndrome 9
Pulmonary artery hypoplasia, Recurrent respiratory infections, Ventricular septal defect, Atrial ... OMIM:616777
Glutathionuria
Gray matter heterotopia OMIM:231950
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Abnormal cardiac septum morphology ORPHA:250989
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplastic corpus callosum, Abnormal... ORPHA:2524
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray OMIM:612422
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Transposition of the great arteries, Abnormal heart morphology ORPHA:1505
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Chiari malformation, Dan... ORPHA:2481
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:620113
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:619774
Telangiectasia, Hereditary Hemorrhagic, Type 2
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... OMIM:600376
Primary Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Coronary artery atherosclerosis, Abnormality of the ... ORPHA:565612
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Telangiectasia, Hereditary Hemorrhagic, Type 4
Palate telangiectasia, Ischemic stroke, Cerebral hemorrhage, Nasal mucosa telangiectasia, Transie... OMIM:610655
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Dandy-Walker malformation OMIM:164180
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... OMIM:115197
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Palmar neurofibromas, Bilateral vestibular schwannoma, Paraspinal neurofibromas OMIM:162260
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Abnormality of neuronal migration, Molar tooth sign on MRI, Cerebellar ver... ORPHA:2318
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se... ORPHA:3474
Adams-Oliver Syndrome
Encephalocele, Arteriovenous malformation, Abnormal pulmonary valve morphology, Pulmonary artery ... ORPHA:974
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Dysplastic corpus callosum, Microcephaly OMIM:620001
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... ORPHA:439
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Intracranial hemorr... ORPHA:163979
Benign Schwannoma
Facial palsy, Scleral schwannoma, Schwannoma, Abnormality of the twelfth cranial nerve, Periphera... ORPHA:252164
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hy... OMIM:220210
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta, Aortic valve stenosis,... ORPHA:2396
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Short stature ORPHA:557003
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Ascending tubular aorta aneurysm, Ascending aortic dissection, Bicuspid pul... OMIM:610168
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Hy... ORPHA:17
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricular septal defect, Pulm... ORPHA:99095
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Patent foramen ovale, Double outlet right... ORPHA:477817
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Ventricular septal defect, Redundant neck skin, Pulmonary artery a... OMIM:301056
Alkuraya-Kucinskas Syndrome
Kinked brainstem, Gray matter heterotopia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cer... OMIM:617822
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Ventricular septal defect, Partial agenesis of the corpus callosum, Microce... OMIM:619103
Joubert Syndrome
Aganglionic megacolon, Polymicrogyria, Abnormality of neuronal migration, Cerebellar vermis hypop... ORPHA:475
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Pachygyria, Dysplastic corpus callosum, Polymicro... ORPHA:2328
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matter abnorma... ORPHA:488627
Feingold Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Tricuspid stenosis,... OMIM:164280
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Spina bifida, Hydranen... OMIM:256520
Focal Dermal Hypoplasia
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Aplasia/... ORPHA:2092
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Neoplasm of the gastrointestinal tract, Spontaneous, recurrent epista... ORPHA:2929
Tempi Syndrome
Transudative pleural effusion, Intracranial hemorrhage, Abnormality of the pulmonary vasculature ORPHA:284227
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Atypical Werner Syndrome
Premature arteriosclerosis, Abnormal cerebral vascular morphology, Mitral valve prolapse, Abnorma... ORPHA:79474
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Hypoplasia of the corpus callosum, Bicuspid aortic valve, Mitral valve prolapse, Right atrial enl... ORPHA:555877
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum, Short stature OMIM:619423
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Atrial septal defec... OMIM:620024
Mosaic Trisomy 1
Ventricular septal defect, Pulmonary hypoplasia, Coarctation of aorta, Pulmonary artery atresia, ... ORPHA:1692
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Pallister-Hall Syndrome
Patent ductus arteriosus, Ventricular septal defect, Natal tooth, Abnormal lung lobation, Preduct... OMIM:146510
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... OMIM:609192
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement OMIM:617047
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasia, Abnormal ce... ORPHA:2671
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ventricular septal de... OMIM:619503
Cerebrofacioarticular Syndrome
Short stature, Abnormal heart morphology, Microcephaly, Hypoplasia of the corpus callosum, Dyspla... ORPHA:314679
Perlman Syndrome
Interrupted aortic arch OMIM:267000
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration, Dandy-Wal... ORPHA:7
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Peters Plus Syndrome
Patent ductus arteriosus, Webbed neck, Abnormal cardiac septum morphology, Abnormality of the pul... ORPHA:709
Telangiectasia, Hereditary Hemorrhagic, Type 1
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... OMIM:187300
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect... OMIM:619268
Adams-Oliver Syndrome 5
Pulmonic stenosis, Patent foramen ovale, Right atrial enlargement, Right ventricular hypertrophy OMIM:616028
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Delayed erupt... OMIM:300166
Robinow Syndrome, Autosomal Dominant 3
Patent ductus arteriosus, Patent foramen ovale, Webbed neck, Ventricular septal defect, Hypoplast... OMIM:616894
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertensi... OMIM:602531
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Pulmonary artery stenosis, Bilateral lung agenesis, Ventricular septal defect OMIM:611812
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Muscular ventricular septal defec... ORPHA:363444
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Congenita... OMIM:614294
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Vater/Vacterl Association
Patent ductus arteriosus, Ventricular septal defect, Spina bifida, Occipital encephalocele, Tetra... OMIM:192350
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Molar tooth sign on MRI OMIM:617563
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:2211
Chiari Malformation Type Ii
Gray matter heterotopia, Chiari malformation OMIM:207950
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Lissencephaly, Pachygy... ORPHA:35107
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria ORPHA:2065
Roifman Syndrome
Decreased T cell activation, Decreased circulating antibody level ORPHA:353298
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Carpenter Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Situs inversus totalis, Dextrocardia, Transpositi... OMIM:614976
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmon... OMIM:614609
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Pulmonary artery aneurysm, Vascular tortuosity, Pulmonary artery dilatation... OMIM:614437
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Septo-optic dyspl... OMIM:301043
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:603909
Restrictive Dermopathy
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Atrial septal defect, Dextrocardia, T... ORPHA:1662
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Optic atrophy, Cerebellar hypoplasia, Chiari type I malformation, Da... OMIM:618476
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Gray matter... OMIM:615287
Parkes Weber Syndrome
Lower limb muscle weakness, Bounding pulse, Cerebral arteriovenous malformation, Hemangiomatosis,... ORPHA:90307
Nestor-Guillermo Progeria Syndrome
Short stature, Left atrial enlargement, Growth delay, Right atrial enlargement, Cavum septum pell... OMIM:614008
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Ventricular septal defect, Pulmonary hypoplasia, Redundant neck skin, Abnormal... ORPHA:96334
Marfan Syndrome
Aortic tortuosity, Meningocele, Ascending tubular aorta aneurysm, Descending aortic dissection, M... ORPHA:558
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Right atrial enlargement ORPHA:57777
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Arima Syndrome
Dilated fourth ventricle, Gray matter heterotopia, Hypoplasia of the brainstem, Molar tooth sign ... OMIM:243910
Zttk Syndrome
Ventricular septal defect, Optic atrophy, Short stature, Periventricular leukomalacia, Atrial sep... OMIM:617140
Simpson-Golabi-Behmel Syndrome, Type 1
Patent ductus arteriosus, Ventricular septal defect, Transposition of the great arteries, Hydroce... OMIM:312870
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Agammaglobulinemia, Panhypogammaglobulinemia OMIM:209920
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... OMIM:614924
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... OMIM:157800
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Optic disc coloboma, Abnormality of neuronal migration, Cer... ORPHA:1454
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Optic atrophy ORPHA:192
Man1B1-Cdg
Periventricular heterotopia, Cerebellar hypoplasia ORPHA:397941
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Cerebellar hypoplasia, Simplified gyral pattern, Lissencephaly, Opti... ORPHA:468631
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased amplitude of sensory action potentials, Peripheral hypomye... OMIM:618733
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Abnormality of neuronal migration, Perisylvian predominant thick cortex pac... ORPHA:98889
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... ORPHA:572
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Cerebellar vermis hypoplasia ORPHA:157
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of cerebral white matter on M... ORPHA:544488
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Atrial septal defect OMIM:614886
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Muscular ventricular septal defect, Dysplastic corpus callosum... OMIM:618569
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Zimmermann-Laband Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, Delayed eruption of teeth, ... OMIM:135500
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Coronary artery stenosis, Hypertension OMIM:615812
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... OMIM:616652
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Optic atrophy OMIM:619833
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Cerebellar vermis hypoplasia