Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
leucine zipper protein 1
Synonyms:
2700072H04Rik,  Luzp

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Luzp1 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.

The table below shows human diseases associated to Luzp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal eyebrow morphology, Epicanthus, Abnormal heart valve morphology, C... ORPHA:1606

The table below shows human diseases predicted to be associated to Luzp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... ORPHA:2476
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Epicanthus, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydro... ORPHA:1908
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... OMIM:611134
Acalvaria
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of ... ORPHA:945
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Anencephaly, Cleft palate, Narrow ... OMIM:614175
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy, Hydrocephalus, Cleft palate, Bifid uvula OMIM:258320
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V... OMIM:614120
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Anencephaly 2
Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate, Short palpebr... OMIM:619452
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Cleft palate, Hydranencephaly, Truncus arteriosus OMIM:601355
Schisis Association
Encephalocele, Omphalocele, Spina bifida, Microcephaly, Congenital diaphragmatic hernia, Anenceph... ORPHA:63862
Diabetic Embryopathy
Ventricular septal defect, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:1926
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Joint c... OMIM:225790
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... ORPHA:1335
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Absent septum pellucidum, Bilater... OMIM:601357
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Dandy... OMIM:603194
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Multiple joint contractures, Aplasia/Hypoplasia of the cerebellum, Camptodactyly... ORPHA:2570
Distal Deletion 13Q
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Abnormal car... ORPHA:1590
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Microhydranencephaly
Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... OMIM:605013
Fetal Trimethadione Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, High palate, Transposition of the... ORPHA:1913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Congenital diaphragma... OMIM:616546
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow palpebral fissure, Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonata... OMIM:236500
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High palate, Short philt... OMIM:619148
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior open-bite m... OMIM:617877
Hydrolethalus
Absent septum pellucidum, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, ... ORPHA:2189
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Coloboma, ... OMIM:220210
Trisomy 18
Congenital diaphragmatic hernia, Holoprosencephaly, Hernia, Atrial septal defect, Iris coloboma, ... ORPHA:3380
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Pseudotrisomy 13 Syndrome
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Cleft upper li... OMIM:264480
Isolated Dandy-Walker Malformation
Encephalocele, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Dand... ORPHA:217
Triploidy
Omphalocele, Intestinal malrotation, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft pal... ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... OMIM:253800
Short-Rib Thoracic Dysplasia 12
Omphalocele, Natal tooth, Epicanthus, Median cleft lip, Ventricular septal defect, Intestinal mal... OMIM:269860
22Q11.2 Duplication Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Cleft palate, Hypoplastic left heart, Transp... ORPHA:1727
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Highly ... OMIM:618316
Iniencephaly
Encephalocele, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydr... ORPHA:63259
Weiss-Kruszka Syndrome
Epicanthus, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Highly arched eye... OMIM:618619
Trisomy 1Q
Omphalocele, Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Congenital dia... ORPHA:261344
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Carpenter Syndrome 1
Omphalocele, Epicanthus, Telecanthus, Ventricular septal defect, Persistence of primary teeth, Pa... OMIM:201000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, ... OMIM:249000
Neu-Laxova Syndrome 1
Swollen lip, Neonatal death, Pterygium, Agenesis of corpus callosum, Patent foramen ovale, Dandy-... OMIM:256520
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoe... ORPHA:1780
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... OMIM:179613
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip OMIM:611561
Cerebrocostomandibular Syndrome
Death in infancy, Cerebral calcification, Ventricular septal defect, Spina bifida, Microcephaly, ... ORPHA:1393
Limb Body Wall Complex
Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Ventricular septal defect, Diastasis... ORPHA:2369
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
3Mc Syndrome 1
Conjunctival telangiectasia, Atrial septal defect, Telecanthus, Omphalocele, Ventricular septal d... OMIM:257920
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Transposition of the ... OMIM:314390
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Thin upper lip vermilion, Overriding aorta, Cyanosis, Microcephaly, Patent duc... ORPHA:3304
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... ORPHA:2143
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
8P23.1 Microdeletion Syndrome
Epicanthus, Congenital diaphragmatic hernia, Microcephaly, Patent ductus arteriosus, Pulmonary ar... ORPHA:251071
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Ventricular septal defect, Absent septum ... OMIM:619895
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger, Microcephaly, Downturned corners of mouth, High palate, Lon... ORPHA:1707
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Ane... ORPHA:887
Fetal Valproate Spectrum Disorder
Omphalocele, Epicanthus, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long p... ORPHA:1906
Miller-Dieker Syndrome
Omphalocele, Epicanthus, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the corpus c... ORPHA:531
Ververi-Brady Syndrome
Thin upper lip vermilion, Microcephaly, Upslanted palpebral fissure, Wide mouth, High palate, Tra... OMIM:617982
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Epicanthus, Overriding aorta, Telecanthus, Ventricular sep... OMIM:601927
Trigonocephaly 1
Omphalocele, Epicanthus, Microcephaly, High, narrow palate, Synophrys, Upslanted palpebral fissur... OMIM:190440
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short philtrum, Patent foramen ova... OMIM:618454
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Agenesis of corpus callosum, ... ORPHA:2745
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at... OMIM:616749
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Hydrocephalus, Cleft palate, Retinal coloboma, Thick anter... ORPHA:2839
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Upslanted palpebral fissure, Coloboma, Macroglossia, Wide mouth, Everted lower lip vermilion, Tra... OMIM:616789
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... OMIM:208530
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Si... ORPHA:244
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Intestinal malrotation, Microcephaly, Hydrocephalus, Cleft palate, Ap... ORPHA:2166
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Omphalocele, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Patent d... OMIM:616300
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Op... OMIM:147800
Holoprosencephaly
Congenital diaphragmatic hernia, Synophrys, Deep philtrum, Holoprosencephaly, Chorioretinal colob... ORPHA:2162
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Reduced cerebral white matter volume, Short philtrum, Widely spaced teeth, Chorioretinal coloboma... OMIM:280000
14Q11.2 Microdeletion Syndrome
Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Highly arched eyebrow, Patent duc... ORPHA:261120
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double ... ORPHA:3426
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Jaundice, Wide mouth, Branchial anomaly, Aplasia/Hypo... ORPHA:1296
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Hadziselimovic Syndrome
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Microcephaly, Thick lower lip ver... OMIM:612946
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... OMIM:301043
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Epicanthus, Ventriculomegaly, Ventricular septal defect, Cutis marmorata, Megalencephaly, Hydroce... OMIM:602501
Chromosome 9P Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect, Hi... OMIM:158170
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Partial agenesis of the corpus callosum, Hypoplasia of the b... OMIM:610828
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Caudal Duplication
Omphalocele, Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aorti... OMIM:617751
Perching Syndrome
Joint contracture, Cyanosis, High palate, Camptodactyly OMIM:617055
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cutis marmorata, Protruding tongue, Patent ductus arteriosus, Hydrocep... OMIM:612938
Joubert Syndrome 15
Molar tooth sign on MRI, Coloboma, Exencephaly OMIM:614464
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Hig... ORPHA:2059
Joubert Syndrome 14
Encephalocele, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of c... OMIM:614424
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... OMIM:207950
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Mosaic Trisomy 1
Omphalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Co... ORPHA:1692
Hydrolethalus Syndrome 1
Omphalocele, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Abnormal cort... OMIM:236680
Otopalatodigital Syndrome Type 2
Encephalocele, Omphalocele, Abnormal heart valve morphology, Camptodactyly of finger, Myelomening... ORPHA:90652
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Downturned corners of mouth, Short philtrum, Agenesis of ... ORPHA:93267
Catel-Manzke Syndrome
Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Clef... ORPHA:1388
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Thin upper lip vermilion, Omphalocele, Highly arched eyebrow, Sparse eyebrow,... OMIM:619124
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal cardiac septum mo... ORPHA:83473
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Fetal Encasement Syndrome
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Cleft lip, Upper eye... ORPHA:398156
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Microcephaly OMIM:302000
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Teebi Hypertelorism Syndrome 1
Omphalocele, Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, H... OMIM:145420
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Epicanthus, Inguinal hernia, Cleft soft palate, Secundum atrial septal ... OMIM:620183
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Li... ORPHA:99742
Constricting Bands, Congenital
Encephalocele, Omphalocele, Cleft upper lip, Cleft palate, Eyelid coloboma, Gastroschisis, Ectopi... OMIM:217100
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... OMIM:600001
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Umbil... OMIM:615297
Chromosome 6Q24-Q25 Deletion Syndrome
Hooded eyelid, High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High pa... OMIM:612863
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Narrow palpebral fissure... OMIM:260660
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Chorioretinal coloboma, Hernia, Iris coloboma, Abnormal dental m... ORPHA:2092
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Umbilical hernia, Omphalocele OMIM:275100
Coffin-Siris Syndrome 3
Thick eyebrow, Inguinal hernia, Microcephaly, Central diaphragmatic hernia, Cleft palate, Abnorma... OMIM:614608
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Synophrys, Downturned corners of mouth, Coloboma, Atrial septal defect, Ca... ORPHA:329224
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Patent... OMIM:619657
Chime Syndrome
Epicanthus, Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, ... ORPHA:3474
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Secondary microcephaly OMIM:610992
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric... OMIM:265380
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventriculomegaly, Bicuspid aortic valve, Abnormal size of the palpebral fissures, Highly arched e... ORPHA:500159
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... ORPHA:99050
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Partial agenesis of the corpus callosum, High palate, Atrial septal defect, Spin... OMIM:300373
Kagami-Ogata Syndrome
Omphalocele, Atrial septal defect, Inguinal hernia, Ventricular septal defect, Diastasis recti, P... OMIM:608149
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, ... OMIM:614815
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Ventriculomegaly, Cutis marmorata, Intestinal malrotat... OMIM:614701
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... OMIM:616894
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Cerebral calcification, Intestinal malrotation, Aqueductal stenosis, Upslanted palpe... ORPHA:3035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog... ORPHA:254534
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, M... OMIM:301056
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Microcephaly, Flexion cont... OMIM:263210
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the ... OMIM:619995
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Synophrys ORPHA:3366
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Thin upper lip vermilion, Ingui... OMIM:247200
Alg3-Cdg
Cerebral white matter atrophy, Lipodystrophy, Microcephaly, Hypoplasia of the pons, Coarctation o... ORPHA:79321
Frontonasal Dysplasia 1
Pericallosal lipoma, Epicanthus, Median cleft lip, Frontal cutaneous lipoma, Anterior basal encep... OMIM:136760
3C Syndrome
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Chorioretinal coloboma... ORPHA:7
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentiti... OMIM:618529
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Epicanthus, Everted upper lip vermilion, Ventricular septal defect, Optic n... OMIM:615879
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Upslanted... OMIM:616652
Neuralgic Amyotrophy
Acrocyanosis, Cleft palate, Narrow mouth ORPHA:2901
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Deep ... OMIM:619717
Marshall-Smith Syndrome
Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, High palate, Short philtrum... OMIM:602535
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... OMIM:614249
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Cerebral atrophy, Atrial septa... OMIM:614886
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Cerebral atr... OMIM:618164
Meckel Syndrome
Encephalocele, Aplasia/Hypoplasia of the tongue, Microcephaly, Situs inversus totalis, Hydrocepha... ORPHA:564
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... OMIM:222448
Maternal Phenylketonuria
Epicanthus, Ventricular septal defect, Microcephaly, Bilateral ptosis, Esophageal atresia, Abnorm... ORPHA:2209
Li-Ghorbani-Weisz-Hubshman Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral... OMIM:618974
Omphalocele
Omphalocele ORPHA:660
C Syndrome
Omphalocele, Epicanthus, Ventricular septal defect, Accessory oral frenulum, Microcephaly, Patent... OMIM:211750
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Jaundice, Ventricular septal defect, Death in infancy OMIM:614876
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly... ORPHA:2919
Emanuel Syndrome
Multiple joint contractures, Hooded eyelid, Dental crowding, Congenital diaphragmatic hernia, Hig... ORPHA:96170
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Cerebellar atrophy, Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Microcephaly,... OMIM:618506
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Microcephaly, Temporal cortical atrophy, Lip discoloration, Frontal... ORPHA:621
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... OMIM:617022
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal m... OMIM:270100
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fistula, Gingival ... ORPHA:1834
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Thin upper lip vermilion, Epicanthus, Microcephaly, Patent ductus arteriosus, Upslan... OMIM:609625
Chromosome 6Pter-P24 Deletion Syndrome
Anal atresia, Telecanthus, Epicanthus, Ventricular septal defect, Dandy-Walker malformation, Tent... OMIM:612582
Nemaline Myopathy 9
High palate, Arthrogryposis multiplex congenita, Ventricular septal defect, Cleft palate OMIM:615731
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Orofacia... ORPHA:1519
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... OMIM:601322
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph... OMIM:612530
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Celi... ORPHA:284169
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana... OMIM:605376
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Microcephaly, High, narrow palate, Dilated cardiomyopathy, Ventriculom... ORPHA:2515
Emanuel Syndrome
Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Joint contra... OMIM:609029
Scimitar Syndrome
Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventricle, Patent ductus arteri... ORPHA:185
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Epicanthus, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:2184
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Spina bifida, Mitral valve prolapse, Long philtrum, Joint contracture of the han... OMIM:211960
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Abn... ORPHA:371428
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Lateral Meningocele Syndrome
Telecanthus, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, ... OMIM:130720
Coenzyme Q10 Deficiency, Primary, 7
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Cerebell... OMIM:616276
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat... ORPHA:477817
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Epicanthus, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placent... ORPHA:254528
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Coloboma, Hy... ORPHA:370959
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Chiari type... OMIM:218350
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Cleft palate, Tooth age... ORPHA:1166
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft lip, Cleft pa... OMIM:616898
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion contracture, Simplified gyral... ORPHA:284417
Velocardiofacial Syndrome
Inguinal hernia, Ventricular septal defect, Microcephaly, Velopharyngeal insufficiency, Submucous... OMIM:192430
Tetrasomy 5P
Pericallosal lipoma, Epicanthus, Cyanosis, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wal... ORPHA:3309
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Megalencephaly, Hydrocephalus, Thick corpus call... OMIM:603387
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Microphthalmia, Syndromic 2
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial septal defect, Co... OMIM:300166
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Congenital diaph... ORPHA:2255
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Omphalocele, X-Linked
Omphalocele OMIM:310980
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Omphalocele, Autosomal
Omphalocele OMIM:164750
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Microcephaly, Thick lower lip vermilion, Simplified gyral pattern, Abnormal cerebr... OMIM:614407
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical d... OMIM:613001
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Epicanthus, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Dysplastic cor... OMIM:618820
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Neurooculocardiogenitourinary Syndrome
Epicanthus, Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology, Patent ductu... OMIM:618652
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Almond-shaped palpebral fissure, Epi... OMIM:619103
Fryns Syndrome
Tented upper lip vermilion, Atrial septal defect, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:229850
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Synophrys, High palate, Widely spaced teeth, Microdontia, Atrial septal de... OMIM:612474
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Pagod Syndrome
Encephalocele, Death in infancy, Omphalocele, Spina bifida, Microcephaly, Situs inversus totalis,... ORPHA:991
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Ascending aorta hypoplasia, Synophrys, Deep philtrum, Flexion contracture, Facia... OMIM:619503
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, High palate, Atrial septal defect, Patent foramen ovale, Bifid uvula,... OMIM:615582
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Epicanthus, Inguinal hernia, Ventricular septal defect, Broad secondary alveolar ridge, High pala... ORPHA:3369
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Cerebral... OMIM:613759
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Secondary microcephaly, Cerebellar hypoplasia, Neona... OMIM:613730
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... ORPHA:2712
Suleiman-El-Hattab Syndrome
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect... OMIM:618950
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Epicanthus, Ventriculomegaly, Ventricular septal defect, Microcephaly, ... OMIM:220500
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood OMIM:253300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Overriding aorta, Median cleft lip, Microcephaly, Orofacial cleft, Holoprosencephaly... ORPHA:3186
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... ORPHA:2299
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malr... OMIM:243150
Restrictive Dermopathy
Multiple joint contractures, Atrial septal defect, Sparse eyebrow, Patent ductus arteriosus, Spar... ORPHA:1662
Houge-Janssens Syndrome 3
Epicanthus, Inguinal hernia, Microcephaly, Muscular ventricular septal defect, Hypoplasia of the ... OMIM:618354
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microd... OMIM:617360
Neu-Laxova Syndrome
Cerebral calcification, Abnormal eyelid morphology, Flexion contracture, Pterygium, Pachygyria, B... ORPHA:2671
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Atrial septal defect, Agenesis of ... OMIM:312870
Waardenburg Syndrome Type 3
Atrial septal defect, Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Microceph... ORPHA:896
Li-Campeau Syndrome
Telecanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Long phil... OMIM:619189
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Microcephaly, Abnormal cardiac ventricle morphology, Pate... ORPHA:2306
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Inguinal hernia, Sparse eyebrow, Hydrocephalus, Cleft p... ORPHA:459061
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arterios... OMIM:618330
Primary Pulmonary Hypoplasia
Epicanthus, Cyanosis, Dextrocardia, Microcephaly, Secundum atrial septal defect, Cleft palate, Hy... ORPHA:2257
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Death in infancy, Epicanthus, Ventricular septal defect, Abnormal cortical gy... OMIM:614576
Lateral Meningocele Syndrome
Epicanthus, Inguinal hernia, Ventricular septal defect, Dental crowding, High, narrow palate, Men... ORPHA:2789
Pai Syndrome
Encephalocele, Telecanthus, Median cleft lip, Midline central nervous system lipomas, Cleft palat... ORPHA:1993
8P23.1 Duplication Syndrome
Ventricular septal defect, Highly arched eyebrow, Thick vermilion border, Pulmonic stenosis, Long... ORPHA:251076
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Microcephaly, Partial agenesis of the corp... OMIM:617478
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Sparse eyelashe... OMIM:616901
Burn-Mckeown Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Lower eyelid c... OMIM:608572
Blepharocheilodontic Syndrome 1
Lagophthalmos, Conical tooth, Cleft upper lip, Ectropion of lower eyelids, Neural tube defect, Eu... OMIM:119580
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Flexion contracture, Ankyloblepharon, Pterygium, Patent foramen ovale,... OMIM:263650
Alg9-Cdg
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Villous atrophy, Ventricular septal defec... ORPHA:79328
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary art... ORPHA:2326
X-Linked Intellectual Disability, Nascimento Type
Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypoplasia of the pons,... ORPHA:163956
Chromosome 18Q Deletion Syndrome
Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Dysplastic aortic... OMIM:601808
Desmosterolosis
Epicanthus, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Intestinal malrot... ORPHA:35107
Walker-Warburg Syndrome
Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogy... ORPHA:899
Noonan Syndrome 12
Ventricular septal defect, Anteriorly placed anus, Chiari malformation, Tetralogy of Fallot, Vent... OMIM:618624
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Epicanthus, Inguinal hernia, Ventricular septal defect, Camptodact... ORPHA:373
Fibrochondrogenesis 1
Omphalocele, Narrow mouth, Cleft palate, Stillbirth, Long philtrum, Joint contracture of the hand... OMIM:228520
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
8Q12 Microduplication Syndrome
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ... ORPHA:228399
Carpenter Syndrome 2
Epicanthus, Dextrocardia, Highly arched eyebrow, Sparse eyebrow, Situs inversus totalis, Patent d... OMIM:614976
Trigonocephaly With Short Stature And Developmental Delay
Epicanthus, Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges OMIM:314320
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Ventriculomegaly, Ventricular septal defect, Rectovaginal... OMIM:600373
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Orofacial cleft, Microcephaly ORPHA:3434
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Hi... OMIM:618494
Esophageal Atresia
Omphalocele, Cyanosis, Ventricular septal defect, Barrett esophagus, Intestinal malrotation, Pylo... ORPHA:1199
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnorma... ORPHA:261183
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Absent eyebrow, Death in infancy, Inguinal hernia, Perianal erythema, Aganglionic me... OMIM:308205
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect, Long philtrum OMIM:617895
Ring Chromosome 13 Syndrome
Epicanthus, Microcephaly, Anencephaly, High palate, Short philtrum, Agenesis of corpus callosum, ... ORPHA:96176
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, Microcephaly, Patent d... OMIM:618142
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Microcephaly, High, narrow palate, Cleft palate, Abnormal aortic morph... ORPHA:2516
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Highly arched eyebrow, Cleft palate, Downturned corners of mouth, Ecto... ORPHA:94066
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Ventriculomegaly, Ventricular septal defect, Patent ductus arteriosus, Coarctation of... OMIM:617159
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Microcephaly ORPHA:391646
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Submucous cleft hard palate, Spinal dysraphism, Hypoplastic left heart, Aortic valv... OMIM:617660
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Macrogyria, Eyelid coloboma, Lissencephal... ORPHA:2211
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Absent septum pellucidum, Highly arched eyebrow, Microcephaly, P... ORPHA:96147
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly ORPHA:71277
Pontocerebellar Hypoplasia, Type 17
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defec... OMIM:619909
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Ventricular sep... OMIM:600987
Inverted Duplicated Chromosome 15 Syndrome
Epicanthus, Ventricular septal defect, Microcephaly, Synophrys, High palate, Short philtrum, Hern... ORPHA:3306
Lissencephaly 9 With Complex Brainstem Malformation
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of ... OMIM:618325
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... OMIM:249670
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Exaggerated cupid's bow, C... ORPHA:261236
Lambotte Syndrome
Telecanthus, Ventricular septal defect, Microcephaly, Narrow mouth, Semilobar holoprosencephaly OMIM:245552
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Highly arched eyebrow, Microcephaly, Synophrys, Submucous cleft hard palate, Supernum... OMIM:617412
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Inguinal hernia, Microcephaly,... OMIM:616449
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia OMIM:601163
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Perimembrano... OMIM:618651
Braddock-Carey Syndrome 1
Telecanthus, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Pierre-Robin sequenc... OMIM:619980
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosu... ORPHA:79243
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Cerebellar calcifications, Microcephaly, Basal gang... OMIM:225750
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Synophrys, Abnormal ... ORPHA:401935
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Upslanted palpebral fissure, Ma... ORPHA:369891
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Cat Eye Syndrome
Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Patent ductus arteriosus, Total anom... OMIM:115470
Exstrophy-Epispadias Complex
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Microcephaly, Hydrocephalus, Cystocele... ORPHA:322
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Micr... OMIM:615583
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydroc... OMIM:300514
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, ... OMIM:618067
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... ORPHA:93929
Phaver Syndrome
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aor... ORPHA:2876
Opitz Gbbb Syndrome
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Cerebellar vermis hypoplasia, Ventricular... OMIM:300000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Intestinal malrotation, Neoplasm of the heart, Umbilical hernia, M... ORPHA:2241
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spi... OMIM:305600
Tarp Syndrome
Cyanosis, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Tongue nodules, Persist... ORPHA:2886
Otopalatodigital Syndrome, Type I
Omphalocele, Selective tooth agenesis, Cleft palate, Multiple impacted teeth, Narrow mouth, Downs... OMIM:311300
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Buratti-Harel Syndrome
Epicanthus, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard ... OMIM:619314
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly, Intestinal atresia OMIM:614326
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S... OMIM:615948
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... OMIM:612561
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Atrophy/Degeneration affecting the brainstem, Hypert... OMIM:616277
Orofaciodigital Syndrome Xix
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Upslanted p... OMIM:620107
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular sep... OMIM:619306
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Epicanthus, Cerebral calcification, High, narrow palate, Submucous cle... ORPHA:2780
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Upslanted palpebral f... ORPHA:250999
Down Syndrome
Epicanthus, Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atriove... OMIM:190685
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Cleft palate, Coarctation of aorta, Hypoplasia of the corpus callosum,... OMIM:620210
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Ventricular septal defect, Hypoplasia of the corpus callosum, Lateral ventricle dilat... OMIM:616816
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Pa... OMIM:300963
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Cyanosis, Abnormal brainstem MRI signal intensity, L... ORPHA:444013
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Highly arched eyebrow,... OMIM:617452
Congenital Heart Block
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... ORPHA:60041
Toriello-Carey Syndrome
Partial agenesis of the corpus callosum, Anteriorly placed anus, High palate, Aplasia/Hypoplasia ... ORPHA:3338
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Marden-Walker Syndrome
Abnormal cerebellar vermis morphology, Ventricular septal defect, Dextrocardia, Absent septum pel... ORPHA:2461
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Deep philtrum, Flexion contracture, Abnormal aortic arch morphology, ... ORPHA:96334
Oeis Complex
Omphalocele, Intestinal malrotation, Myelomeningocele, Hydrocephalus, Anteriorly placed anus, Chi... OMIM:258040
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Ventricular septal defect, Selective tooth agenesis, Conical tooth, Absent eyel... OMIM:106260
Orofaciodigital Syndrome V
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Agangli... OMIM:174300
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Cardiomegaly, Microcephaly, Cerebral atrophy, Abnormal basal ... ORPHA:391428
Axenfeld-Rieger Syndrome, Type 2
Telecanthus, Anal stenosis, Inguinal hernia, Hydrocephalus, Abnormal heart morphology, Short phil... OMIM:601499
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the ... OMIM:618223
Viss Syndrome
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Chronic gas... OMIM:619472
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Hernia, Atrial septal... ORPHA:363705
Charge Syndrome
Secundum atrial septal defect, Coloboma, Holoprosencephaly, Pulmonary artery atresia, Atrial sept... OMIM:214800
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Epicanthus, Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft ... ORPHA:1770
Filippi Syndrome
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Thin vermilion border, Short philtru... OMIM:272440
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Downslanted palpebral fissures, Smoo... OMIM:614526
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Sparse eyebrow, Ascending tubular aorta aneu... ORPHA:444072
Fraser Syndrome
Encephalocele, Death in infancy, Anal stenosis, Omphalocele, Dental crowding, Microcephaly, Cleft... ORPHA:2052
Isolated Childhood Apraxia Of Speech
Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph... ORPHA:209908
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Limb joint contracture... ORPHA:505237
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Patent forame... OMIM:249420
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly, Cleft upper lip, Cleft palate, High palate, Ptosis OMIM:609654
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Microcephaly, H... OMIM:616920
Warsaw Breakage Syndrome
Epicanthus, Ventricular septal defect, Cutis marmorata, Microcephaly, Optic disc coloboma, Wide m... OMIM:613398
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale,... ORPHA:457279
Doors Syndrome
Short lingual frenulum, Downturned corners of mouth, High palate, Widely spaced teeth, Spina bifi... ORPHA:79500
Tyshchenko Syndrome
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Hypopla... OMIM:615102
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
3P25.3 Microdeletion Syndrome
Atrial septal defect, Epicanthus, Cerebral white matter atrophy, Ventricular septal defect, Thin ... ORPHA:435638
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Microcephaly, Abnormality of the dentition, Cleft pal... ORPHA:261190
Distal Deletion 15Q
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia,... ORPHA:1596
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... ORPHA:2729
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Smooth philtrum, Ventricular septal defect, Synophrys, Patent duct... OMIM:620113
Arthrogryposis, Distal, Type 3
Epicanthus, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee flexion cont... OMIM:114300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Hydrocephalus, Orofacial cleft, Ventricu... OMIM:615630
Adams-Oliver Syndrome 1
Encephalocele, Ventriculomegaly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorat... OMIM:100300
Beck-Fahrner Syndrome
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Microcephaly, High palate, Long ... OMIM:618798
Myoectodermal Gonadal Dysgenesis Syndrome
Smooth philtrum, Omphalocele, Epicanthus, Diastasis recti, Highly arched eyebrow, Sparse eyebrow,... OMIM:618419
Cerebrocostomandibular Syndrome
Epicanthus, Anal stenosis, Ventricular septal defect, Cleft soft palate, Microcephaly, Carious te... OMIM:117650
Cardiac Valvular Dysplasia 1
Inguinal hernia, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis... OMIM:212093
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Reduced cerebral white matter volume, Syno... OMIM:614961
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Dental crowding, Microcephaly, S... OMIM:617061
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Microcephaly, Carious teeth, Patent ductus arteriosus, Velopharyngeal ... OMIM:613680
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Microcephaly, Hypoplastic left heart, Aplasia/Hypoplasia of the cerebe... ORPHA:2772
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy... ORPHA:99125
Radio-Tartaglia Syndrome
Dental crowding, High, narrow palate, Synophrys, High palate, Short philtrum, Agenesis of corpus ... OMIM:619312
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Epicanthus, Ventriculomegaly, Abnormality of the dentition, Carious teeth, Dyspl... ORPHA:363444
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly, Anal atresia OMIM:601389
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Highly arched eyebro... ORPHA:404440
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Ptosis ORPHA:98913
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger, Cleft palate, Narrow mouth, Downslanted palpebral fissures ORPHA:2021
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Patent fo... OMIM:618027
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Bicuspid aortic valve, Synophrys, Downturned corners of mouth, High palate, Microd... OMIM:610759
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, High palate, Bif... OMIM:208050
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... OMIM:619769
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoes... ORPHA:77298
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Abnormal eyelash morph... ORPHA:3378
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula OMIM:619239
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen... OMIM:618779
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Smooth philtrum, Thin upper lip vermilion, Ventricular septa... OMIM:270450
De Barsy Syndrome
Delayed eruption of teeth, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, I... ORPHA:2962
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episo... ORPHA:137675
Bencze Syndrome
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite ORPHA:1241
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect, Aganglionic megacolon, Microcephaly, Malabsorption, ... ORPHA:452
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Microcephaly, Cerebral atrophy, Wide mouth, Chiari type I malformation... OMIM:617635
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:617201
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Wide mouth... OMIM:615668
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microcephaly, Narrow mouth, Atrial septal defect, Anal atresia ORPHA:3469
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, High, narrow palate, Short philtrum, Atrial septal defect, Cavum sept... ORPHA:464738
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Smooth philtrum, Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Ventr... OMIM:608670
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Chromosome 1P36 Deletion Syndrome, Proximal
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Complete atrioventric... OMIM:619343
Congenital Fibrinogen Deficiency
Cyanosis, Gingival bleeding, Left ventricular hypertrophy, Volvulus, Bruising susceptibility, Sub... ORPHA:335
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, Abnormality of the ... ORPHA:141099
C Syndrome
Omphalocele, Death in infancy, Epicanthus, Accessory oral frenulum, Microcephaly, Congenital diap... ORPHA:1308
Kagami-Ogata Syndrome
Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Large placenta, Blepharophimosis, Bro... ORPHA:254519
19P13.12 Microdeletion Syndrome
Epicanthus, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly,... ORPHA:254346
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Absent eyelashes, Wide mouth, E... ORPHA:920
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Ogden Syndrome
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Ventriculomegaly, High, ... ORPHA:276432
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Spina bifida, Dilatation of the sinus of Valsalva, Hydrocephalus,... OMIM:304120
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Epicanthus, Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Patent ductus arteriosu... OMIM:614557
Mosaic Trisomy 9
Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina... ORPHA:99776
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... ORPHA:1507
Birk-Barel Syndrome
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Highly arched eyebrow, High pala... OMIM:612292
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Ventricular septal defect, Sparse eyelashes, ... ORPHA:1071
Rhizomelic Chondrodysplasia Punctata, Type 2
Inguinal hernia, Optic nerve hypoplasia, Microcephaly, Submucous cleft hard palate, Flexion contr... OMIM:222765
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Ventriculomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect... OMIM:620024
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary artery stenosis... ORPHA:75389
Distal Deletion 3P
Epicanthus, Telecanthus, Inguinal hernia, Microcephaly, Cleft palate, Downturned corners of mouth... ORPHA:1620
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Pachygyria, Dysplastic corpus callosum, Patent... ORPHA:2328
Hardikar Syndrome
Ventricular septal defect, Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Cel... OMIM:301068
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Ventriculomegaly, Abnormal h... ORPHA:494344
Orofaciodigital Syndrome I
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Hamartoma of tong... OMIM:311200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis, Protruding tongue, Microcephaly, Thin corpus callosum, Ventriculome... OMIM:619580
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, W... OMIM:618106
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Cardiofaciocutaneous Syndrome 1
Deep philtrum, High palate, Atrial septal defect, Absent eyebrow, Absent eyelashes, Open bite, Ap... OMIM:115150
Char Syndrome
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... ORPHA:46627
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Deep philtrum, Chiari type I malformation, High palate, Widely spaced teeth, Atrial septal defect... OMIM:617506
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Cardiofaciocutaneous Syndrome
Atrial septal defect, Epicanthus, Abnormal heart valve morphology, Abnormal eyelash morphology, H... ORPHA:1340
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of corpus call... ORPHA:2273
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy ORPHA:306550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Ventricular septal defect, Microcephaly, Cardiomegaly, Flexion contracture, Cleft pa... OMIM:616897
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect, Absent septum p... OMIM:613884
19P13.3 Microduplication Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Microcephaly, Cerebral atrophy, Cleft palate,... ORPHA:447980
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Ventricular septal defect, Aganglionic megacolon, Microcephaly, Aqueducta... OMIM:154400
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Ventricular septal defect, Microcephaly, Esophageal atresia, Pulmonary artery... OMIM:301030
Jacobsen Syndrome
Eyelid coloboma, Pachygyria, Agenesis of corpus callosum, Iris coloboma, Abnormality of the anus,... ORPHA:2308
Roifman Syndrome
Noncompaction cardiomyopathy, Thin upper lip vermilion, Hip contracture, Ventricular septal defec... OMIM:616651
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Microcephaly, Atrial septal defect, Keloids, Periventricular leukomalacia ORPHA:357225
Microcephaly-Capillary Malformation Syndrome
Ptosis, Ventricular septal defect, Simplified gyral pattern, Cerebral atrophy, Cleft palate, Hypo... OMIM:614261
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Breath-Holding Spells
Cyanosis OMIM:607578
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Ventricul... OMIM:235255
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect, Downs... OMIM:620184
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Atrial septal defect, ... OMIM:235510
8Q22.1 Microdeletion Syndrome
Telecanthus, Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Microcephaly, Spar... ORPHA:178303
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Cyanosis, Dysplastic... ORPHA:488627
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Lacrimal duct stenosis, Intestin... ORPHA:457193
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... ORPHA:439
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Holoprosencephaly, Single ventricle OMIM:619879
Microform Holoprosencephaly
Tented upper lip vermilion, Microcephaly, Cleft palate, Orofacial cleft, Short philtrum, Holopros... ORPHA:280200
Kleefstra Syndrome
Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Downturned corners of mouth, Hernia... ORPHA:261494
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobom... OMIM:248450
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Congenital diaphragmatic h... OMIM:309801
Noonan Syndrome 8
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Palmoplantar ... OMIM:615355
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Cleft lip, Cleft palate, U... OMIM:619123
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
2Q31.1 Microdeletion Syndrome
Synophrys, Deep philtrum, Downturned corners of mouth, Coloboma, Atrial septal defect, Iris colob... ORPHA:251014
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... OMIM:619950
Hajdu-Cheney Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Intestinal malrotation, Inguinal hernia, Syno... OMIM:102500
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Cleft palate, Agenesis ... ORPHA:52055
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Microcephaly, Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Smooth philtrum, Ventricular septal defect, Cutis marmorata, Intes... OMIM:617602
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Jaundice, Microcephaly ORPHA:1667
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Intestinal malrota... OMIM:619321
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Short philt... ORPHA:293725