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 6.33×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses 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
Lissencephaly 1
Agyria, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band heterotopia, Hypoplasia ... OMIM:607432
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Optic atrophy, Periventricular nodular heterotopia OMIM:618572
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Pachygyria, Gray matter heterotopia, Subcortical band heterotopia OMIM:615412
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria OMIM:615411
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Gray matter heterotopia, Dysgyria, Hypoplasia of the brainstem, Type II li... ORPHA:352682
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Distal Trisomy 14Q
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus ORPHA:1705
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal lung lobation, Short neck, Ventricular septal defect, Truncus arteriosus, A... ORPHA:2516
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Worster-Drought Syndrome
Microcephaly, Abnormal cranial nerve morphology ORPHA:3465
Lissencephaly 3
Agyria, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly, Pachygyria, Polymicr... OMIM:611603
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyria, Polymicrogyria, Abn... OMIM:604317
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum OMIM:613162
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
Velocardiofacial Syndrome
Tetralogy of Fallot, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Ventricul... OMIM:192430
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:617577
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Cardiomegaly, Recurrent upper respiratory tract infections, Pneum... ORPHA:95430
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Hypoplasia of the pons, Perive... OMIM:618677
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventricular septal def... ORPHA:401935
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased specifi... OMIM:615897
Marcus-Gunn Syndrome
Postnatal growth retardation, Abnormal heart morphology, Abnormal fifth cranial nerve morphology ORPHA:91412
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Optic atrophy, Periventricular nodular heterotopia OMIM:617201
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyria, Gray matter heterotopia OMIM:604213
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Truncus arteriosus, Aorti... OMIM:615415
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect, Partial anomalous pulm... OMIM:617478
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Meacham Syndrome
Pulmonary hypoplasia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Scimit... OMIM:608978
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Lissencephaly 5
Gray matter heterotopia, Subcortical band heterotopia, Hypoplasia of the brainstem, Cerebellar he... OMIM:615191
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, D... ORPHA:860
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Gray matter heterotopia OMIM:300067
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta, Pulmonic stenosis, Hypo... ORPHA:3426
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... OMIM:601186
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Abnormal... OMIM:601612
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Pachygyria, Gray matter heterotopia ORPHA:1084
Intellectual Developmental Disorder, Autosomal Dominant 13
Cerebellar hypoplasia, Hypoplasia of the brainstem, Peripheral axonal neuropathy, Pachygyria, Abn... OMIM:614563
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosus, Atrial ... ORPHA:980
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Po... ORPHA:250972
Band Heterotopia
Polymicrogyria, Gray matter heterotopia, Subcortical band heterotopia OMIM:600348
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia OMIM:608097
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Thickened nuchal skin fold, De... OMIM:609029
Diabetic Embryopathy
Tetralogy of Fallot, Spinal dysraphism, Abnormality of the pulmonary artery, Ventricular septal d... ORPHA:1926
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of the pulmonary artery, Ventricular septal defect, Patent duct... ORPHA:290
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Aorta Coarctation
Perimembranous ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteri... ORPHA:1457
Retinal Detachment
Retinal detachment OMIM:180050
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Peripheral arteriovenous fistula, ... ORPHA:90308
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis, Abnormality of the pulmonary ar... ORPHA:1131
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Arnold-Chiari Malformation Type I
Abnormality of the twelfth cranial nerve, Myelopathy, Cranial nerve compression, Abnormality of t... ORPHA:268882
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Retinal cotton wool spot, Reti... ORPHA:247691
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary artery hypoplasia, Double outlet right ventricle, Right aortic ... ORPHA:2326
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Lissencephaly 4
Agenesis of corpus callosum, Growth delay, Microcephaly, Lissencephaly, Short stature, Simplified... OMIM:614019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Cerebellar hypoplasia, Hypoplasia of the brainstem, Pachygyria, Facial palsy, Abnormality of neur... OMIM:608840
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Cerebellar cyst, Gray matter heterotopia, Pachygyria, Facial diplegia ORPHA:370980
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Acrocardiofacial Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Mitral stenosis, Ventricular sep... ORPHA:2008
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Agenesis of corpus callosum, Optic nerve hypoplasia, Mild short statu... OMIM:614833
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of the optic disc, Abnormality of neuron... ORPHA:65
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... OMIM:600001
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal brainstem morphology, Perisylvian polymicrogyria, Gray matter hetero... ORPHA:300573
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Growth delay, Microcephaly, Optic atrophy OMIM:274270
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Emanuel Syndrome
Delayed eruption of teeth, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Rec... ORPHA:96170
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Aortic Arch Interruption
Aortic valve atresia, Aortopulmonary window, Patent ductus arteriosus, Double outlet right ventri... ORPHA:2299
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Mucolipidosis Iv
Microcephaly, Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination OMIM:252650
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Growth delay, Primary microcephaly OMIM:618010
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary aterial intimal fibrosis, Pulmonary artery vasoconstriction,... OMIM:178600
Superficial Siderosis
Abnormal corpus callosum morphology, Dysgyria, Abnormality of the vestibulocochlear nerve, Abnorm... ORPHA:247245
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Dextrocardia
Webbed neck, Dextrocardia, Congenital malformation of the great arteries, Situs inversus totalis,... ORPHA:1666
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypo... ORPHA:2876
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Aortic aneurysm, Recurrent respiratory infections, Branchial fistula, Ventr... ORPHA:261330
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Cerebral cortical atrophy, Optic atrophy, Agenesis of corpus callosum OMIM:617669
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Left atrial isom... OMIM:605376
Primary Ciliary Dyskinesia
Hydrocephalus, Situs inversus totalis, Double outlet right ventricle, Abnormal atrial arrangement... ORPHA:244
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Gray matter heterotopia, Dandy-Walker malformation, ... OMIM:617622
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Aganglionic megacolon, Hydrocephalus OMIM:304100
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Absent... OMIM:218670
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Pulmonary artery atresia, Secundum atrial septa... OMIM:108900
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Biventricular hypertrophy,... OMIM:619424
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Cerebellar cyst, Dilated fourth ventricle, Cerebellar hypoplasia, Abnormal... ORPHA:370959
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Hemimegalencephaly
Polymicrogyria, Pachygyria, Optic atrophy, Gray matter heterotopia ORPHA:99802
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Gray matter heterotopia, Cerebel... OMIM:615960
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining directly to ... OMIM:619657
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... ORPHA:251071
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus OMIM:314390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Optic nerve ... OMIM:615181
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Short stature... OMIM:182230
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Carpenter Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricul... OMIM:201000
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Short neck, Patent ductus arteriosus ORPHA:2001
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition ... OMIM:617877
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thoracic aortic aneurysm OMIM:616166
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Aortic root aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, ... ORPHA:363618
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Mitochondrial Complex I Deficiency, Nuclear Type 16
Agenesis of corpus callosum, Intrauterine growth retardation, Caudate atrophy, Optic atrophy OMIM:618238
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Alg3-Cdg
Neural tube defect, Coarctation of the descending aortic arch, Cardiomyopathy, Pulmonary hypoplasia ORPHA:79321
Pagod Syndrome
Pulmonary hypoplasia, Pulmonary artery hypoplasia, Situs inversus totalis, Hypoplastic left heart... ORPHA:991
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pachygy... OMIM:616212
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Atrial septal defect, Pulmonic stenos... OMIM:253800
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Cerebellar hypoplasia, Optic nerve dysplasia, Gray matter heterotopia, Dandy-Walker malformation,... OMIM:615287
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Microgastria-Limb Reduction Defects Association
Abnormal lung lobation, Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly OMIM:156810
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Webbed neck, Abnormal pulmonary valve morphology, Abnormal mitra... ORPHA:500
Thoracoabdominal Syndrome
Hydrocephalus, Ectopia cordis, Patent ductus arteriosus, Anencephaly, Transposition of the great ... OMIM:313850
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Short neck, Atrioventricular canal defect, Coarctation of aorta, Spina bifid... ORPHA:508498
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormal fifth cranial nerve morphology, Abnormality of in... ORPHA:449563
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Atherosclerosis, C... ORPHA:231160
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Subcortical heterotopia, Cerebellar hypoplasia, Optic nerve hypoplasia, Gray matter heter... OMIM:614643
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... ORPHA:1780
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Short ... ORPHA:567
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Peripheral axonal neuropathy, Agenesis of corpus callosum OMIM:600638
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Patent foramen ovale, Severe short statu... OMIM:616854
Lymphedema-Distichiasis Syndrome
Webbed neck, Abnormality of the pulmonary vasculature, Varicose veins, Patent ductus arteriosus ORPHA:33001
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Ven... OMIM:600460
Distal Tetrasomy 15Q
Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, Hypoplastic aortic arc... ORPHA:314588
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Holt-Oram Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Ventricular septal defect... ORPHA:392
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus, Abnormal lung lobation... ORPHA:2538
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Intrauterine growth retardation, Postnatal growth retardation, Noncompact... OMIM:610198
Walker-Warburg Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Dandy-Walker malformation, Lissencephaly, Macr... ORPHA:899
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Optic atrophy ORPHA:2518
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta, Pulmonic stenosi... ORPHA:353281
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Short neck, Thickened nuchal skin fold, Abn... ORPHA:2059
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly ORPHA:89844
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly, Spina bifida occulta, Dilation... OMIM:618736
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Aortic aneurysm, Secundum atrial septal defect... ORPHA:1600
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Pulmonary artery stenosis ORPHA:435938
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Double... OMIM:270100
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Anencephaly, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atr... ORPHA:1908
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Abnormal cranial nerve morphology, Agenesis of corpus callosum, Situs inversus... ORPHA:990
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
20Q13.33 Microdeletion Syndrome
Hypoplastic aortic arch, Atrial septal defect, Abnormal cardiac ventricle morphology ORPHA:261311
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary hypoplasia, Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous con... ORPHA:99125
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Optic atrophy, Gray matter heterotopia OMIM:615219
Primary Pulmonary Hypoplasia
Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secundum atrial septal defect, Abno... ORPHA:2257
Digeorge Syndrome
Tetralogy of Fallot, Recurrent pneumonia, Patent ductus arteriosus, Recurrent sinusitis, Ventricu... OMIM:188400
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum OMIM:614924
Phace Syndrome
Tetralogy of Fallot, Visceral angiomatosis, Aortic root aneurysm, Cerebral arteriovenous malforma... ORPHA:42775
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Cerebral arteriovenous malformation, Aortic dissection,... OMIM:175050
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Hypertrophic cardiomyop... OMIM:618810
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Benign Schwannoma
Abnormal cranial nerve morphology, Schwannoma, Peripheral Schwannoma, Abnormality of the twelfth ... ORPHA:252164
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Congestive heart failure, Cerebral arteriovenous malformati... ORPHA:137667
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Patent ductus arteriosus, Ascending aorta hypoplasia, Hypopla... ORPHA:141127
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy ORPHA:44
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Thoracic aorta calcification, Coarctation of aorta, Hypoplastic left heart,... ORPHA:402075
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Short neck, Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, At... OMIM:617506
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal lung morphology, Abnormality of the neck, Abnormal... ORPHA:167635
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... ORPHA:2255
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Distal Monosomy 15Q
Abnormal aortic arch morphology, Cystic hygroma, Patent ductus arteriosus, Double outlet right ve... ORPHA:1596
Fanconi Anemia, Complementation Group I
Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Patent foramen ovale,... OMIM:609053
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarctation of a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarctation of a... ORPHA:353277
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Gray matter heterotopia ORPHA:101030
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
De Barsy Syndrome
Delayed eruption of teeth, Patent ductus arteriosus, Prominent veins on trunk, Ventricular septal... ORPHA:2962
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Charge Syndrome
Overriding aorta, Webbed neck, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defec... OMIM:214800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrioventricular canal defect, Recurrent lower re... OMIM:619534
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Intrauterine growth retard... ORPHA:555874
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy, Postnatal g... ORPHA:75249
Craniofacial Microsomia
Tetralogy of Fallot, Patent ductus arteriosus, Occipital encephalocele, Coarctation of aorta, Rig... OMIM:164210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Abnormal periventricular white matter morphology, H... OMIM:616900
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Dilatation of the cerebral artery, Abnormal a... OMIM:613834
8Q24.3 Microdeletion Syndrome
Branchial cyst, Complete atrioventricular canal defect, Abnormal lung lobation, Short neck, Paten... ORPHA:508488
Feingold Syndrome Type 1
Patent ductus arteriosus, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular se... ORPHA:391641
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis, Transpositi... OMIM:280000
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Ventricular septal defect, Emphysema, P... OMIM:619472
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Femoral-Facial Syndrome
Ventricular septal defect, Pulmonic stenosis, Truncus arteriosus OMIM:134780
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Patent foramen ovale, Microcephaly, Simplified gyral pattern, Short s... OMIM:619179
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Primary microcephaly... ORPHA:500144
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Vici Syndrome
Cerebellar hypoplasia, Hypoplasia of the pons, Optic atrophy, Gray matter heterotopia ORPHA:1493
Pyruvate Dehydrogenase E1-Beta Deficiency
Cerebellar hypoplasia, Periventricular heterotopia, Pachygyria, Hypoplasia of the brainstem ORPHA:255138
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia OMIM:300957
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Pulmonary arte... OMIM:616777
Facial Dysmorphism With Multiple Malformations
Transposition of the great arteries, Tetralogy of Fallot, Ventricular septal defect, Hydrocephalus OMIM:227255
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Patent ductus arteriosus, Atrial septal defect, Vas... OMIM:180849
Short Rib-Polydactyly Syndrome
Abnormal heart morphology, Situs inversus totalis, Transposition of the great arteries ORPHA:1505
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellu... ORPHA:2481
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Short stature, Abnormality of thalamus morphology, Focal white matter... ORPHA:557003
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Gray matter heterotopia OMIM:164180
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral arteriovenous malformation, Spontaneous, recurrent... OMIM:610655
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Arrhythmia, Abnormality of the shoulder girdle muscu... ORPHA:565612
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Abnormality of neuronal migration, Cerebellar ver... ORPHA:2318
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619699
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Abnormal autonomic nervous system physiology, Focal T2 hyperint... ORPHA:282166
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Retrocerebellar cyst OMIM:603671
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Arteriovenous malformation, Pulmonary a... ORPHA:974
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebellar hypoplasia, Periventricular heterotopia, Optic atrophy OMIM:618476
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Cerebral arteriovenous malformation, Gastrointestinal telangiectasia, Hy... OMIM:600376
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Neoplasm of... ORPHA:54595
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Hypoplasia of t... ORPHA:2524
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Kinked brainstem, Cerebellar hypoplasia, Gray matter heterotopia, Hypoplasi... OMIM:617822
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosus ORPHA:163979
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic ar... ORPHA:2396
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Neu-Laxova Syndrome 1
Patent foramen ovale, Patent ductus arteriosus, Hydranencephaly, Spina bifida, Ventricular septal... OMIM:256520
Loeys-Dietz Syndrome 2
Spontaneous pneumothorax, Patent ductus arteriosus, Aortic root aneurysm, Descending aortic disse... OMIM:610168
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Chime Syndrome
Tetralogy of Fallot, Pulmonary valve atresia, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Joubert Syndrome
Polymicrogyria, Aganglionic megacolon, Abnormality of neuronal migration, Cerebellar vermis hypop... ORPHA:475
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Hydranencephaly
Atrophic pituitary gland, Intrauterine growth retardation, Dysgenesis of the thalamus, Hypoplasti... ORPHA:2177
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Multifocal hyperintensity of cerebral white... ORPHA:488627
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Intrauterine growth retardation, Primary microcephaly, Thick cerebral... ORPHA:357058
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Meester-Loeys Syndrome
Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissection OMIM:300989
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:135500
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Tetralogy of Fallot, Pachygyria, Ventricular septal defect, Polymicro... ORPHA:2328
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent foramen ovale, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta... ORPHA:17
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Decr... ORPHA:477817
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Juvenile Polyposis Syndrome
Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Colon cancer, Cerebral arter... ORPHA:2929
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Spina bifida, Ventricular septal defec... ORPHA:2092
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect, Pulmonary artery atr... OMIM:301056
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Short stature, Secondary microcephaly OMIM:619423
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebellar hypoplasia, Dandy-Walker malformation, Lissencephaly, Macr... ORPHA:2671
Mosaic Trisomy 1
Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Increased nuchal trans... ORPHA:1692
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
3C Syndrome
Dandy-Walker malformation, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellu... ORPHA:7
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Loeys-Dietz Syndrome 1
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary artery aneurysm, ... OMIM:609192
Atypical Werner Syndrome
Aortic valve stenosis, Premature arteriosclerosis, Prominent superficial veins, Peripheral arteri... ORPHA:79474
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis, Right ventricular hypertrophy OMIM:616028
Peters Plus Syndrome
Webbed neck, Short neck, Abnormal pulmonary vein morphology, Patent ductus arteriosus, Bicuspid p... ORPHA:709
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Telang... OMIM:187300
Microphthalmia, Syndromic 2
Aortic valve stenosis, Delayed eruption of teeth, Patent ductus arteriosus, Atrial septal defect,... OMIM:300166
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Pallister-Hall Syndrome
Abnormal lung lobation, Preductal coarctation of the aorta, Patent ductus arteriosus, Natal tooth... OMIM:146510
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Pulmonic stenosis, Microcephaly, Abnorma... ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Atrial septal defect, Muscular ventricular septal defect, Abnormal he... ORPHA:363444
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Gray matter heterotopia OMIM:617563
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Atrial septal defect, Pulmonary artery sling, V... OMIM:619268
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Short neck, Patent foramen ovale, Patent ductus arteriosus, Hypoplastic right heart,... OMIM:616894
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
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
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:2211
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Galloway-Mowat Syndrome
Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Grange Syndrome
Coronary artery stenosis, Carotid artery stenosis, Renovascular hypertension, Bicuspid aortic val... OMIM:602531
Vater/Vacterl Association
Tetralogy of Fallot, Patent ductus arteriosus, Occipital encephalocele, Spina bifida, Ventricular... OMIM:192350
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Septo-optic dysplasia, Agenesis of corpus callosum, Pa... OMIM:301043
Desmosterolosis
Abnormal cortical gyration, Lissencephaly, Macrogyria, Pachygyria, Polymicrogyria, Abnormality of... ORPHA:35107
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis OMIM:611812
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Coronary artery stenosis OMIM:615812
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Generalized arterial tortuosity, Pulmonary artery aneurysm, Pulmonary artery dilatatio... OMIM:614437
Fibromuscular Dysplasia, Multifocal
Carotid artery tortuosity, Pulmonary artery aneurysm, Tortuous cerebral arteries, Dilatation of t... OMIM:619329
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Chiari Malformation Type Ii
Chiari malformation, Gray matter heterotopia OMIM:207950
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Optic nerve h... OMIM:206900
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Arima Syndrome
Dilated fourth ventricle, Molar tooth sign on MRI, Gray matter heterotopia, Hypoplasia of the bra... OMIM:243910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Muscular ventricular septal defect, Ascending aorta hypoplasia, Doub... OMIM:619503
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Carpenter Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Dextrocardia, Situs inversus totalis, Transpositi... OMIM:614976
Restrictive Dermopathy
Patent ductus arteriosus, Atrial septal defect, Dextrocardia, Transposition of the great arteries... ORPHA:1662
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Cavum septum pellucidum, Growth delay, Short stature, Left atrial enlar... OMIM:614008
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Zttk Syndrome
Dysplastic corpus callosum, Intrauterine growth retardation, Atrial septal defect, Growth delay, ... OMIM:617140
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Descending aortic dissection, Pulmonary artery dilatation, M... ORPHA:558
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Short neck, Pulmonary hypoplasia OMIM:601559
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Short neck, Atrial septal defect, Hypertrophic cardiomyopathy, S... ORPHA:96334
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian poly... ORPHA:98889
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Cerebellar hypoplasia, Periventricular heterotopia, Optic nerve hypoplasia, S... ORPHA:468631
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:209920
Parkes Weber Syndrome
High-output congestive heart failure, Lower limb muscle weakness, Cerebral arteriovenous malforma... ORPHA:90307
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Total anomalous pulmonary venous return, Patent ductus arteriosus, Atrial septal d... OMIM:312870
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Joubert Syndrome With Hepatic Defect
Optic disc coloboma, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Cer... ORPHA:1454
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Optic atrophy ORPHA:192
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Decreased ci... ORPHA:572
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus OMIM:614886
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration, Cerebellar vermis hypoplasia ORPHA:157
Pseudo-Torch Syndrome 2
Cerebellar hypoplasia, Polymicrogyria, Gray matter heterotopia OMIM:617397
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Periventricular heterotopia, Decreased amplitude of sensory action pot... OMIM:618733
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis, ... OMIM:245150
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Muscular ventricular septal defect, Hypoplasia of the c... OMIM:618569
Cirrhotic Cardiomyopathy
Right atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Left atrial enlargement ORPHA:57777
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus OMIM:243440
Bohring-Opitz Syndrome
Dandy-Walker malformation, Delayed peripheral myelination, Hypoplasia of the brainstem, Gray matt... OMIM:605039
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Hyperlysinemia
Recurrent pneumonia, Pulmonary artery hypoplasia ORPHA:2203
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Cerebellar vermis atrophy ORPHA:163681
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Partial IgA deficiency, Lack of... ORPHA:35078
Cockayne Syndrome Type 1
Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... ORPHA:90321
Mowat-Wilson Syndrome
Delayed eruption of teeth, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pul... OMIM:235730
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia, Simpl... OMIM:601390
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Papilledema, Coarctation of aorta, Bicuspid ... ORPHA:371428
Charge Syndrome
Aortic arch aneurysm, Tetralogy of Fallot, Delayed eruption of teeth, Patent ductus arteriosus, A... ORPHA:138
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, At... OMIM:300967
Aicardi Syndrome
Chiari malformation, Gray matter heterotopia, Dandy-Walker malformation, Pachygyria, Polymicrogyr... OMIM:304050
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Periventricular nodular heterotopia ORPHA:352582
Tangier Disease