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:
Luzp,  2700072H04Rik

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
Long philtrum, Camptodactyly of finger, Abnormal eyebrow morphology, Narrow mouth, Horizontal eye... 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
Spina bifida, Ventricular septal defect, Anencephaly, Non-midline cleft lip, Gastroschisis, Ectop... ORPHA:2476
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Omphalocele, Cleft palate, Bifid uvula, Hydrocephalus OMIM:258320
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Omphalocele, Cleft palate,... ORPHA:945
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1908
Diprosopus
Abnormal cardiac septum morphology, Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventricular sept... ORPHA:1926
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of ... OMIM:614120
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Unilateral cleft lip, Anal atresia, Congenital diaphragma... ORPHA:63862
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Blepharophimosis, Stillbirth, Arrhinencephaly, Narrow palpebral fiss... OMIM:300073
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Cleft palate, Microcephaly OMIM:601355
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Anencephaly, Ptosis, Cleft palate, Molar tooth sign on MRI OMIM:614175
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Right ao... OMIM:231060
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Anencephaly, Ectopia cordis, Congenital diaphragmatic hern... OMIM:313850
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Neural Tube Defects, Susceptibility To
Hydrocephalus, Anencephaly, Multiple lipomas, Spina bifida occulta, Myelomeningocele, Lipoma OMIM:182940
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Synophrys, Th... OMIM:617877
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Epicanthus, Synophrys, Ptosis, Micr... ORPHA:1913
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Coloboma, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenos... OMIM:220210
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Ventricular septal defect, Absent septum pellucidum, Holoprosencephaly, Bilateral cleft... OMIM:601357
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, No... ORPHA:1335
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Ventriculomegaly, Cerebral atrophy, Patent ductus arteriosus, Epicanth... OMIM:618164
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Flexion contracture, Cerebellar hyp... OMIM:225790
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Stillbirth, Narrow palpebral fis... OMIM:236500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly... OMIM:615287
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Iris coloboma, Anencephaly, Anal at... ORPHA:1590
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Gingival cleft, Unilateral... ORPHA:2189
Weiss-Kruszka Syndrome
Highly arched eyebrow, Colpocephaly, Ventricular septal defect, Hypoplasia of the corpus callosum... OMIM:618619
Trisomy 18
Narrow palate, Narrow mouth, Iris coloboma, Omphalocele, Anencephaly, Arnold-Chiari malformation,... ORPHA:3380
Triploidy
Macroglossia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Holoprosencephaly, Intesti... ORPHA:3376
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Agenesis of corpus callosum... OMIM:264480
Trisomy 1Q
Camptodactyly of finger, Agenesis of corpus callosum, Narrow mouth, Ventricular septal defect, Ve... ORPHA:261344
Thakker-Donnai Syndrome
Communicating hydrocephalus, Narrow mouth, Downturned corners of mouth, Ventricular septal defect... ORPHA:1780
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Epicanthus, Smooth philtrum, Ptosis, Hypoplas... ORPHA:1727
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Microc... OMIM:612474
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Hydranenceph... OMIM:256520
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Patent ductus arteriosus, Anencephaly, High palate, Anal atresia, Clef... OMIM:619148
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Camptodactyly, Cere... OMIM:179613
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Cerebellar hypoplasia, Hydranencephaly... OMIM:605013
Carpenter Syndrome 1
Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Agenesis of permanent teeth, Ven... OMIM:201000
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Epicanthus, Omph... ORPHA:1906
Miller-Dieker Syndrome
Hypoplasia of the corpus callosum, Epicanthus, Omphalocele, Cerebral cortical atrophy, Abnormalit... ORPHA:531
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Atrial septal defect, Pachygyria, Type II lissencephaly, Agenesis of... OMIM:253800
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Retinal coloboma, Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria... OMIM:616546
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Narrow mouth, Holoprosencephaly, Spinal dysraph... ORPHA:63259
8P23.1 Microdeletion Syndrome
Thin vermilion border, High palate, Abnormal aortic morphology, Patent ductus arteriosus, Upslant... ORPHA:251071
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Teebi Hypertelorism Syndrome
Long philtrum, Highly arched eyebrow, Atrial septal defect, Dental crowding, Ventricular septal d... OMIM:145420
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Unilateral ptosis, High palate, Patent ductus arteriosus, Thin upper lip ve... ORPHA:3304
Distal Trisomy 15Q
Long philtrum, Camptodactyly of finger, Downturned corners of mouth, Blepharophimosis, High palat... ORPHA:1707
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Anencephaly, Cleft palate OMIM:603194
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Death in infancy, Meningocele, Hydra... ORPHA:1393
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventricular septal defect, Ventriculomegaly, Megalencephaly, Epicanthus,... OMIM:602501
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Intestinal malrotation, Omp... ORPHA:2143
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Flexion contracture, Death in infancy, Ptosis, Cleft palat... OMIM:147800
Ververi-Brady Syndrome
High palate, Everted lower lip vermilion, Upslanted palpebral fissure, Wide mouth, Smooth philtru... OMIM:617982
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Cyclopia, Ventricular septal defect, Pa... OMIM:301043
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Ventricular septal defect, Holoprosencephaly, Natal tooth, Intestina... OMIM:269860
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Narrow palpebr... ORPHA:3426
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyebrow, Ventricular septal defect, Cerebellar vermis hypoplasia, Epicanthus, Abnormality ... OMIM:616901
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Ventricular septal defect, Wide mouth, J... ORPHA:1296
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Upslanted palpebral fissure, Patent ductus arter... OMIM:601927
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Coloboma, Open mouth, Everted lower lip vermilion, Upslanted palpebral fissure, Wid... OMIM:616789
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Omphalocele, Anencephaly, Anal atresia, Co... ORPHA:63260
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cuti... OMIM:615297
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Transposit... OMIM:314390
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Camptodactyly, Abnormality of the dentition, Omphalocele, Long eyela... OMIM:618529
14Q11.2 Microdeletion Syndrome
Long philtrum, Highly arched eyebrow, Narrow mouth, Blepharophimosis, Ventricular septal defect, ... ORPHA:261120
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpu... OMIM:612946
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Dandy-Walker... OMIM:612938
Meckel Syndrome, Type 1
Natal tooth, Intestinal malrotation, Omphalocele, Anencephaly, Patent ductus arteriosus, Iris col... OMIM:249000
Limb Body Wall Complex
Thoracoabdominal wall defect, Spina bifida, Atrial septal defect, Short umbilical cord, Diastasis... ORPHA:2369
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Spinal dysraphism, Iris coloboma, Omphal... ORPHA:2162
Opitz Gbbb Syndrome
Natal tooth, Patent ductus arteriosus, Omphalocele, Aplasia/Hypoplasia of the cerebellar vermis, ... ORPHA:2745
Hydrocephalus With Associated Malformations
Omphalocele, Intestinal malrotation, Hydrocephalus OMIM:236640
3Mc Syndrome 1
Conjunctival telangiectasia, Abnormality of the abdominal wall, Highly arched eyebrow, Atrial sep... OMIM:257920
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Megalencephaly, Polymicrogyria, Telecanthus, Abnormal ca... ORPHA:83473
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Omphalocele, Agenesis of ... ORPHA:93267
Catel-Manzke Syndrome
Camptodactyly of finger, Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, ... ORPHA:1388
Amish Lethal Microcephaly
Spina bifida, Ventriculomegaly, Cerebellar vermis hypoplasia, Death in infancy, Microcephaly, Cle... ORPHA:99742
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Ventriculom... ORPHA:244
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Downslanted palpebral fissures, Coarctation o... ORPHA:1692
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Hypoplastic right heart, Blepharophimosis, Ventricular septal defect, Short palpebral fissure, Te... OMIM:601348
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... OMIM:618316
Fryns Syndrome
Intestinal malrotation, Omphalocele, Cerebral cortical atrophy, Congenital diaphragmatic hernia, ... ORPHA:2059
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypoplasia of the brainstem, Short philtrum, Hypoplasia of the corpus callosum, High palate, Vent... OMIM:618354
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Retinal coloboma, Iris coloboma, Microglossia, Hydranencep... ORPHA:2839
Chromosome 9P Deletion Syndrome
Long philtrum, Highly arched eyebrow, Atrial septal defect, Narrow mouth, Ventricular septal defe... OMIM:158170
Developmental And Epileptic Encephalopathy 89
Long philtrum, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the corpus callosum, Upslante... OMIM:619124
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Cyclopia, Holoprosencephaly, Cerebellar ... ORPHA:2166
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Microcephaly, Death in childhood OMIM:302000
Vacterl/Vater Association
Omphalocele, Non-midline cleft lip, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, C... ORPHA:887
Hydrolethalus Syndrome 1
Agenesis of corpus callosum, Stillbirth, Absent septum pellucidum, Ventricular septal defect, Arr... OMIM:236680
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Blepharophimosis, Tetralogy of Fallot with absent pulmonary valve, Patent ductus a... OMIM:239711
Emanuel Syndrome
Dental crowding, Submucous cleft lip, Patent ductus arteriosus, Hooded eyelid, Congenital diaphra... ORPHA:96170
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Caudal Duplication
Spina bifida, Myelomeningocele, Omphalocele, Intestinal duplication ORPHA:1756
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Coloboma, Downturned corners of mouth, Patent ductus arteriosus, Patent foramen ovale, Downslante... ORPHA:329224
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Oligodontia, Narrow mouth, Abnormal heart valve morphology, Pierre-Robin... ORPHA:90652
Chime Syndrome
Pulmonary valve atresia, Short philtrum, Abnormality of dental morphology, Ventricular septal def... ORPHA:3474
Trigonocephaly 1
Meckel diverticulum, Microcephaly, Omphalocele, Synophrys OMIM:190440
Facial Dysmorphism With Multiple Malformations
Narrow mouth, Hydrocephalus, Ventricular septal defect, Downturned corners of mouth, Rectovaginal... OMIM:227255
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Highly arched eyebrow, Abnormal periventricular white matter morphol... ORPHA:500159
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Patent ductus arteriosus, Microcolon, Pulmonary artery stenosis, Congenit... OMIM:600001
Meckel Syndrome, Type 5
Cleft upper lip, Anencephaly, Cleft palate OMIM:611561
Neuralgic Amyotrophy
Acrocyanosis, Narrow mouth, Cleft palate ORPHA:2901
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dea... OMIM:618845
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Patent ductus arteriosus, Om... OMIM:300373
Fryns Syndrome
Hypoplasia of the optic tract, Camptodactyly, Narrow palpebral fissure, Hypoplasia of olfactory t... OMIM:229850
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Short philtrum, Contracture of the proximal interphalangeal joint of the 5th finger, Ventricular ... OMIM:280000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Cerebral atrophy, Patent ductus arteriosus, Epicanthus, Double outlet right... OMIM:614886
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Iris coloboma, Patent ductus arteriosus, Omphalocel... ORPHA:2092
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Iris coloboma, Death in infancy, Or... ORPHA:7
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Hypoplasia of the c... OMIM:618974
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Atrial septal defect, Blepharophimosis, Ventricular septal defect... OMIM:608149
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Arnold-Chiari malformation, Cyanosis, Myelomeningocele, Agenesis of ... OMIM:207950
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Intestinal malrotation, Omp... OMIM:222448
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Delayed eruption of teeth, Abnormality of the abdominal wall, Pachygyria... OMIM:247200
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Cousin Syndrome
Blepharophimosis, Camptodactyly, Microglossia, Hydranencephaly, Wrist flexion contracture, Joint ... OMIM:260660
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Om... OMIM:616894
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Flexion contracture, Epicanthus, Omphalocele, Smooth philtrum, Congeni... OMIM:263210
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Global brain atrophy, Ventricular septal defect, Hypoplasia o... OMIM:301056
22Q11.2 Deletion Syndrome
Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Intestinal malrotation, Patent du... ORPHA:567
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Increased circulating gonadotropin level, Atrial septal defect, Ventricu... OMIM:301030
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft ... ORPHA:217
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Intestinal malrotation, Omphalocele, Aqueductal stenosis, Cerebral c... ORPHA:3035
Maternal Phenylketonuria
Long philtrum, Abnormal heart morphology, Ventricular septal defect, Hypoplasia of the corpus cal... ORPHA:2209
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Glossoptosis, Death in infancy, Ventricular septal defect OMIM:614876
Arthrogryposis, Distal, Type 1C
Pursed lips, Shoulder flexion contracture, Thin vermilion border, Camptodactyly of finger, Narrow... OMIM:619110
Marshall-Smith Syndrome
Short philtrum, Atrial septal defect, Cerebral atrophy, Patent ductus arteriosus, Omphalocele, Um... OMIM:602535
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Isolated Trigonocephaly
Omphalocele, Synophrys ORPHA:3366
C Syndrome
Ventricular septal defect, High palate, Upslanted palpebral fissure, Patent ductus arteriosus, Wi... OMIM:211750
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Median cleft lip and palate, Agenesis of corpus ... OMIM:610828
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large placenta, Omphalocel... ORPHA:254534
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Short philtrum, Arthrogryposis multiplex cong... OMIM:618622
Zimmermann-Laband Syndrome 3
Flexion contracture, Patent ductus arteriosus, Long eyelashes, Synophrys, Thick eyebrow, Gingival... OMIM:618658
Omphalocele
Omphalocele ORPHA:660
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Pa... OMIM:218350
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Ventriculomegaly, Dilated cardiomyopathy, Microcephaly, High, narrow p... ORPHA:2515
Axial Mesodermal Dysplasia Spectrum
Limbal dermoid, Hydrocephalus, Omphalocele, Cerebral cortical atrophy, Anal atresia, Gingival ove... ORPHA:1834
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... OMIM:601322
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Long philtrum, Long eyebrows, Hypoplasia of the corpus callosum, Abnormal cerebral ... OMIM:614407
Chromosome 18Q Deletion Syndrome
Downturned corners of mouth, Patent ductus arteriosus, Absence of the pulmonary valve, Downslante... OMIM:601808
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Cerebral cortical atrophy,... ORPHA:1166
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Porencephalic cyst, Agenesis of corpus callosum, Atrial septal defect, Subcutaneo... OMIM:613001
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Cerebral calcification, Cardiomegaly, Cutis marmorata, Eyelid coloboma, Acro... ORPHA:51
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Abnormality of the philtrum, Cerebral calcification, Pachygyr... ORPHA:2671
Lethal Congenital Contracture Syndrome 10
Long philtrum, Narrow palate, Ventricular septal defect, Omphalocele, Cardiomegaly, Overriding ao... OMIM:617022
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal de... ORPHA:284169
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Ventricular septal defect, Hypoplasia of the corpus callosum, M... OMIM:603387
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Thin vermilion border, Atrial septal defect, Highly arched eyebrow, Ventricular se... ORPHA:1519
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Ventriculomegaly, Aqueductal stenosis, Menin... ORPHA:1136
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Long philtrum, Spina bifida, Camptodactyly, Inguinal hernia, Joint contracture of the hand, Mitra... OMIM:211960
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Open mouth, Ventricular septal defect, Pierre-Robi... OMIM:192430
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Almond-shaped palpebral fissure, Focal polymicrogyria, Partial agenesis of the corpus callosum, V... OMIM:619103
Oculofaciocardiodental Syndrome
Oligodontia, Intestinal malrotation, Patent ductus arteriosus, Peripheral pulmonary artery stenos... ORPHA:2712
Simpson-Golabi-Behmel Syndrome, Type 1
Submucous cleft lip, Intestinal malrotation, Patent ductus arteriosus, Congenital diaphragmatic h... OMIM:312870
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Blepharophimosis, Tented upper lip v... ORPHA:896
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Communicating hydrocephalus, Patent ductus arteriosus, Epicant... ORPHA:2184
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis, Inguinal hernia, Anal atr... ORPHA:3412
Opitz Gbbb Syndrome, Type Ii
Patent ductus arteriosus, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis,... OMIM:145410
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Omphalocele OMIM:614450
Yunis-Varon Syndrome
Thin vermilion border, Short philtrum, Pachygyria, Ventricular septal defect, Arrhinencephaly, Up... OMIM:216340
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Short philtrum, Atrial septal defect, Ventricular septal defect, Everted l... OMIM:616898
Temple Syndrome
Short philtrum, Flexion contracture, Cleft palate, Bifid uvula, High palate, Hydrocephalus OMIM:616222
Coffin-Siris Syndrome 10
Ventricular septal defect, Epicanthus, Wide mouth, Persistence of primary teeth, Microcephaly OMIM:618506
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Long philtrum, Thin vermilion border, Elevated circulating luteinizing hormone level, Diastasis r... OMIM:618419
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Epicanthus, Unilateral cleft lip, Microcephaly, Tetralogy of Fa... ORPHA:1919
Filippi Syndrome
Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricular septal defec... OMIM:272440
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Coarctati... OMIM:600987
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Intestinal malrotation, Patent ductus arteriosus, Omphalocel... OMIM:265380
Mmep Syndrome
Oral cleft, Microcephaly, Median cleft lip, Ventricular septal defect ORPHA:3434
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Upslanted palpebral fissure, Abnormality of the dentition, Umbili... OMIM:616331
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart ... ORPHA:477817
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Holoprosencephaly, Iris coloboma, Omphalocele, Oral cleft, Overriding aorta, Microcepha... ORPHA:3186
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Cerebellar hypoplasia, Patent ductus arteriosus, Omphalocele, Anal atresia, Bifid to... OMIM:616300
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Dental crowding, Patent ductus arteriosus, Downslanted palpebral fissures, Patent f... OMIM:612582
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Upslanted palpebral fissure,... ORPHA:2306
Caudal Regression Sequence
Oral cleft, Arrhinencephaly, Anal atresia, Arnold-Chiari malformation ORPHA:3027
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Hypoplasia of the ... OMIM:617360
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Iris coloboma, Omphalocele... ORPHA:371428
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, High... ORPHA:2919
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Blepharophimosis, Vent... OMIM:608572
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Upslante... OMIM:618820
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Ventr... OMIM:609029
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Cerebellar h... ORPHA:899
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Coloboma, Downturned corners of mouth, Ventricular septal defect, Patent du... OMIM:618652
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:250994
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Sirenomelia, Double outlet right ventricl... ORPHA:79500
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Microphthalmia, Syndromic 2
Oligodontia, Patent ductus arteriosus, Iris coloboma, Dextrocardia, Double outlet right ventricle... OMIM:300166
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate, Epicanthus, Inguinal hernia, Broad secondary alveolar rid... ORPHA:3369
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Cerebral atrophy, Death in childhood, Pulmonary artery atresia, Left s... OMIM:613759
8P23.1 Duplication Syndrome
Long philtrum, Highly arched eyebrow, Ventricular septal defect, Thick vermilion border, Pulmonic... ORPHA:251076
Yunis-Varon Syndrome
Thin vermilion border, Sparse eyebrow, Cardiomegaly, High, narrow palate, Hydrocephalus, Cardiomy... ORPHA:3472
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Open mouth, Camptodactyly, Large pl... ORPHA:254528
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Omphalocele, X-Linked
Omphalocele OMIM:310980
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Charge Syndrome
Coloboma, Patent ductus arteriosus, Omphalocele, Iris coloboma, Double outlet right ventricle, Do... OMIM:214800
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Oculoauriculofrontonasal Syndrome
Narrow mouth, Ventricular septal defect, Upper eyelid coloboma, Lipoma of corpus callosum, Cleft ... ORPHA:398156
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Progeroid Facial Appearance With Hand Anomalies
Short philtrum, Thin vermilion border, Narrow mouth, Blepharophimosis, Upslanted palpebral fissur... OMIM:602249
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Agenesis of corpus callosum, Narrow mouth, Absent ... ORPHA:35107
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Thin vermilion border, Camptodactyly, Intestinal malrotation, Omphalocele, Downslanted palpebral ... OMIM:218649
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Microcephaly, Central retinal vessel vascular tortuosity, Cleft palate ORPHA:506353
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Secundum atrial septal... OMIM:156810
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Atrial septal defect, Ventricular septal ... OMIM:614576
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Umbilical hernia, Dextrocardia, C... OMIM:616145
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the tong... ORPHA:564
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Intestinal malrotation, Dextrocardia, Double outlet right ventricle, Meso... OMIM:605376
8Q12 Microduplication Syndrome
Long philtrum, Highly arched eyebrow, Atrial septal defect, Narrow mouth, Ventricular septal defe... ORPHA:228399
Restrictive Dermopathy
Arthrogryposis multiplex congenita, Short umbilical cord, Narrow mouth, Sparse eyebrow, Natal too... ORPHA:1662
Ritscher-Schinzel Syndrome 2
Short philtrum, Atrial septal defect, Ventricular septal defect, Camptodactyly, Upslanted palpebr... OMIM:300963
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Coloboma, Hydrocephalus, Cardiomyopathy, Hypo... ORPHA:370959
Tetrasomy 5P
Long philtrum, Upslanted palpebral fissure, Lipoma of corpus callosum, Cerebellar hypoplasia, Epi... ORPHA:3309
Lambotte Syndrome
Semilobar holoprosencephaly, Narrow mouth, Ventricular septal defect, Microcephaly, Telecanthus OMIM:245552
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ankle flexion contracture, Cereb... ORPHA:284417
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Thick cerebral cortex, Abnormal heart morphology, Ventricular septal defect... ORPHA:261183
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal heart morphology, P... ORPHA:2872
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Decreased response to growth h... ORPHA:1263
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Sparse eyebrow, Hydrocephalus, Widely spaced teeth, Camptodactyly, Cerebell... ORPHA:459061
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Hypointensity of cerebral white matter on MRI, Downturned corners of mouth... ORPHA:163956
Li-Campeau Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thick e... OMIM:619189
Kennerknecht Syndrome
Long eyelashes, Omphalocele, Hypodontia, Malrotation of colon, High palate OMIM:600908
Suleiman-El-Hattab Syndrome
Long philtrum, Highly arched eyebrow, Atrial septal defect, Drooling, Downturned corners of mouth... OMIM:618950
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Thin vermilion border, Open mouth, Epicanthus, Long eyelashes, Synophrys, ... OMIM:617412
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Hydrocephalus, Absent septum pellucidum, Ventricular se... OMIM:101200
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Microcephaly, Cleft palate, Periventricular white matter hyperdensities OMIM:618768
Childhood Apraxia Of Speech
Drooling, Abnormal caudate nucleus morphology, Horizontal eyebrow, High, narrow palate, Caudate a... ORPHA:209908
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Abnormal heart morphology, Intestinal malrotation, Oral cleft, Abnormal c... ORPHA:1505
Microphthalmia With Limb Anomalies
Long philtrum, Thin vermilion border, Abnormal eyebrow morphology, Venous insufficiency, Blepharo... ORPHA:1106
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Blepharophimosis, Ventricular septal defect, Abnormal aortic morphology, Clef... ORPHA:2516
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Epicanthus, Inguinal hernia, Broad secondary alveolar ridge, High palate OMIM:314320
Hereditary Methemoglobinemia
Temporal cortical atrophy, Lip discoloration, Frontal cortical atrophy, Global brain atrophy, Cer... ORPHA:621
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Cyclopia, Ventricular septal defect, Holoprosencep... ORPHA:261236
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Lateral Meningocele Syndrome
Dental crowding, Ventricular septal defect, Iris coloboma, Smooth philtrum, Umbilical hernia, Epi... ORPHA:2789
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Omphalocele, Ventricular septal defect OMIM:617895
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Atrial septal defect, Ventricular septal defect OMIM:253300
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... OMIM:249670
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Ventriculomegaly, Cleft upper lip, Cleft palate, Bifid uvula, ... OMIM:300958
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Noonan Syndrome 12
Ventricular septal defect, Ventriculomegaly, Arnold-Chiari malformation, Tetralogy of Fallot, Ant... OMIM:618624
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormal aortic morphology, Death in infancy, Pulmonary art... ORPHA:991
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Long philtrum, Atrial septal defect, Open mouth, Ventricular septal defect, Downturned corners of... OMIM:220500
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Ectopic anus, Anal atresia, Cleft palate ORPHA:2345
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Ventricular septal defect, Intestinal malrotation, Omphalocele, Intestinal atr... OMIM:243150
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Fibrochondrogenesis 1
Long philtrum, Narrow mouth, Stillbirth, Camptodactyly, Omphalocele, Joint contracture of the han... OMIM:228520
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Coarctation of aorta, Epicanthus, Aortic valve stenosis, Cerebral calc... ORPHA:2780
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Hy... OMIM:600373
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Macroglossia, Atrial septal defect, Ventricular septal defect, Epicanthu... ORPHA:373
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Pallister-Hall Syndrome
Natal tooth, Patent ductus arteriosus, Pituitary hypothyroidism, Downslanted palpebral fissures, ... ORPHA:672
Inverted Duplicated Chromosome 15 Syndrome
Short philtrum, Drooling, Ventricular septal defect, Epicanthus, Synophrys, Hernia, Downslanted p... ORPHA:3306
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Atrial septal defect, Truncus arteriosus, Absent septum pellucidum, P... ORPHA:2538
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Ankyloblepharon, Omphalocele, Absent eyebrow, Inferiorly posi... OMIM:263650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Patent ductus arteriosus, Epicanthus, Pulmonic stenosis, Dou... OMIM:618223
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Upslanted palpebral fissure, Thick vermilion border, Cleft palate, Congenital ... ORPHA:250999
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Situs inversus totalis, Narrow mouth... ORPHA:2461
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Long philtrum, Rhombencephalosynapsis, Ventricular septal defect, Hy... OMIM:619306
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Narrow mouth, Blepharophimosis, Ventricular septal defect, Hypoplasia of the corpu... OMIM:613457
Warsaw Breakage Syndrome
Ventricular septal defect, Epicanthus, Wide mouth, Cutis marmorata, High palate, Tetralogy of Fal... OMIM:613398
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Long philtrum, Atrial septal defect, Contracture of the proximal interph... ORPHA:457279
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Abnormal cerebral white matter morphology, Ventricular septal hypertrophy, Ventricu... OMIM:614947
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal hear... ORPHA:401935
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Coloboma, Widely-spaced maxillary central incisors, Camptodactyly, Lipo... OMIM:136760
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Short philtrum, Downturned corners of mouth, Ventricular septal defect, Ec... ORPHA:94066
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Epicanthus, Hypoxemia, Abnormal pulmonary artery morphology, Dextr... ORPHA:2257
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Esophageal Atresia
Esophagitis, Coloboma, Ventricular septal defect, Excessive salivation, Coarctation of aorta, Int... ORPHA:1199
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Downslanted palpebral fissures, Midline central nervou... ORPHA:1993
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Abnormal cerebral white matter morphology, Smooth philtrum, Abnormality ... ORPHA:576283
Feingold Syndrome Type 2
Microcephaly, Jejunal atresia, Ventricular septal defect ORPHA:391646
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Highly arched eyebrow, Ventricular hypertrophy, Atrial septal defect, Hypoplasia o... OMIM:300887
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Ventricular septal defect, Ce... ORPHA:79243
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Downslanted palpebral fissures, Patent foramen ovale, High palate, Congenit... OMIM:615582
Otopalatodigital Syndrome, Type Ii
Narrow mouth, Stillbirth, Omphalocele, Cleft palate, Downslanted palpebral fissures, Hydrocephalus OMIM:304120
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Macroglossia, Downturned corners of mouth, Absent septum pellucidum, Evert... ORPHA:96147
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypopl... OMIM:300514
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Villous atrophy, High palate, Cerebral atrophy, Flexion contr... OMIM:601110
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Interrupted aortic arch, Glob... OMIM:616920
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Ventricular septal defect, Thick lower lip vermilion, Widel... OMIM:608227
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly ORPHA:71277
Carpenter Syndrome 2
Highly arched eyebrow, Atrial septal defect, Situs inversus totalis, Narrow palate, Camptodactyly... OMIM:614976
Takenouchi-Kosaki Syndrome
Sparse eyebrow, Abnormal periventricular white matter morphology, Downturned corners of mouth, Ca... OMIM:616737
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Flexion contracture, Thick vermilion... OMIM:618651
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Diastasis recti, Ventricular septal defect, Upslanted palpe... OMIM:248950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Pachygyria, Exencephaly, Polymicrogyria, Abnormal cortical gyration, Macrogyria, P... ORPHA:2211
Buratti-Harel Syndrome
Atrial septal defect, Sparse medial eyebrow, Epicanthus, Ptosis, Bifid uvula, High palate, Downsl... OMIM:619314
Focal Dermal Hypoplasia
Enamel hypoplasia, Aniridia, Oligodontia, Intestinal malrotation, Omphalocele, Iris coloboma, Spi... OMIM:305600
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Long philtrum, Highly arched eyebrow, Downturned corners of m... ORPHA:404440
Holoprosencephaly 2
Median cleft lip and palate, Single ventricle, Cyclopia, Holoprosencephaly, Anterior pituitary ag... OMIM:157170
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Atrial septal defect, Ventricular septal defect, Smooth philtrum, ... ORPHA:261190
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Open mouth, Dilation of lateral ventricles, Ventricular septal... OMIM:616816
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Omphalocele, Nasolacrimal duct obstruction, Eyelid coloboma, Anteriorly placed anus OMIM:248450
Feingold Syndrome 2
Secondary microcephaly, Intestinal atresia, Ventricular septal defect OMIM:614326
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Sparse eyebrow, Abnormal midbrain morphology, Inferior vermis hypopl... ORPHA:444072
Blepharocheilodontic Syndrome 1
Ectropion of lower eyelids, Hypodontia, Neural tube defect, Anal atresia, Cleft upper lip, Distic... OMIM:119580
Constricting Bands, Congenital
Eyelid coloboma, Omphalocele, Ectopia cordis, Gastroschisis, Cleft upper lip, Cleft palate, Bladd... OMIM:217100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Patent fora... OMIM:618454
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Ventriculomegaly, Cerebellar vermis hypoplasia, Oral cleft, Hydrocephalus OMIM:615630
Lymphedema-Distichiasis Syndrome
Cellulitis, Ventricular septal defect, Patent ductus arteriosus, Conjunctivitis, Ptosis, Cleft up... OMIM:153400
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, High palate, Upslanted pa... OMIM:618142
Bencze Syndrome
Open bite, Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate ORPHA:1241
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic dissection, High palate, Aortic root aneurysm, Ing... OMIM:614816
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Short philtrum, Atrial septal defect, Cerebral white matter a... ORPHA:435638
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis, Bifid uvula, Microcephaly, Submucous cleft hard palate OMIM:619239
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Isolated Anencephaly
Omphalocele, Cleft lip, Congenital diaphragmatic hernia ORPHA:563609
Otopalatodigital Syndrome, Type I
Narrow mouth, Omphalocele, Cleft palate, Selective tooth agenesis, Downslanted palpebral fissures... OMIM:311300
Exstrophy-Epispadias Complex
Abnormality of the abdominal wall, Spina bifida, Anal stenosis, Abnormal heart morphology, Omphal... ORPHA:322
Sotos Syndrome 1
Cavum septum pellucidum, Atrial septal defect, Narrow palate, Ventricular septal defect, Ventricu... OMIM:117550
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Premature skin wrinkling, Abnormal heart valve morphology, Umbilical... ORPHA:90348
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Non-Syndromic Posterior Hypospadias
Omphalocele, Esophageal atresia, Cleft palate, Anal atresia, Congenital diaphragmatic hernia ORPHA:95706
Marden-Walker Syndrome
Hypoplasia of the brainstem, Long philtrum, Narrow mouth, Blepharophimosis, High palate, Camptoda... OMIM:248700
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Tarp Syndrome
Atrial septal defect, Abnormal duodenum morphology, Tongue nodules, Pierre-Robin sequence, Cerebe... ORPHA:2886
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Highly arched eyebrow, Drooling, Downturned corners of mouth, Hypo... OMIM:619121
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Abnormality of the anterior pitui... ORPHA:75389
Fg Syndrome Type 1
Open mouth, Dental crowding, Downslanted palpebral fissures, High palate, Mitral valve prolapse, ... ORPHA:93932
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Abnormal eyebrow morphology, Open mo... ORPHA:2077
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Right ventricula... ORPHA:444013
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Upslanted palpebral fissure, Abnormality of the dentition, Microceph... ORPHA:276422
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Ventricular septal defect, Epicanthus, Non-midline cleft lip, Umbili... ORPHA:1770
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Lower eyelid coloboma, Aganglionic megacolon, Wide mouth, Aqueductal s... OMIM:154400
Tyshchenko Syndrome
Atrial septal defect, Narrow palate, Ventricular septal defect, Hypoplasia of the corpus callosum... OMIM:615102
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Epicanthus, Hypoplastic aortic arch, Pterygiu... ORPHA:2876
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Anal stenosis, Abnormal heart morphology, Everted lower lip vermilion, Umbilical ... OMIM:601499
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglottis, Lobulated ... OMIM:615948
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Hypodontia, Joint cont... OMIM:612350
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, High palate, Ptosis, Cleft upper lip, Cleft palate, Microcephaly OMIM:609654
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Highly arched eyebrow, Enlarged sylvian cistern, Hypoplasia of the corpus call... OMIM:615802
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Ventriculomegaly, Hypoplastic le... ORPHA:2772
Insulin-Like Growth Factor I, Resistance To
Long philtrum, Highly arched eyebrow, Atrial septal defect, Narrow mouth, Ventricular septal defe... OMIM:270450
Okamoto Syndrome
Open bite, Open mouth, Ventricular septal defect, Abnormal heart morphology, Hypoplasia of the co... ORPHA:2729
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Ventriculomegaly, ... ORPHA:363444
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Arnold-Chiari malformation, Ventricular septal defect, Upslanted palpebral ... OMIM:617159
Hemifacial Microsomia
Limbal dermoid, Arnold-Chiari malformation, Hydrocephalus, Branchial anomaly, Ventricular septal ... OMIM:164210
Hsd10 Disease, Infantile Type
Cerebral atrophy, Frontotemporal cerebral atrophy, Abnormality of the basal ganglia, Cardiomegaly... ORPHA:391428
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Open mouth, Ventricular septal defect, Abnormal heart morphology, Downturned corner... ORPHA:369891
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Cerebral atro... OMIM:614261
Temple Syndrome
Bifid uvula, Hydrocephalus, Decreased response to growth hormone stimuation test ORPHA:254516
Melnick-Needles Syndrome
Delayed eruption of teeth, Abnormal cardiac septum morphology, Tooth malposition, Omphalocele ORPHA:2484
Radio-Tartaglia Syndrome
Dental crowding, Narrow palpebral fissure, Downslanted palpebral fissures, High palate, High, nar... OMIM:619312
Trisomy 13
Long philtrum, Atrial septal defect, Arnold-Chiari malformation, Ventricular septal defect, Abnor... ORPHA:3378
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Triangular mouth, Downslanted pal... OMIM:617506
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Ogden Syndrome
Minimal subcutaneous fat, Atrial septal defect, Facial wrinkling, Abnormal eyelid morphology, Ven... OMIM:300855
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Kleefstra Syndrome 2
Bifid uvula, Microcephaly, Everted lower lip vermilion, Thick eyebrow OMIM:617768
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Esophageal... ORPHA:77298
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Blepharophimosis, Ventricular septal defect, Upslanted palpebral fissure, Patent d... OMIM:613680
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cloacal Exstrophy
Spina bifida, Intestinal malrotation, Omphalocele, Intestinal duplication, Anal atresia, Bladder ... ORPHA:93929
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Left superior vena cava draining to coronary sinus, Downslanted palpebral fissure... ORPHA:464738
Xk Aprosencephaly Syndrome
Atrial septal defect, Narrow mouth, Ventricular septal defect, Anal atresia, Microcephaly ORPHA:3469
Kapur-Toriello Syndrome
Pachygyria, Ventricular septal defect, Retinal coloboma, Intestinal malrotation, Patent ductus ar... ORPHA:2328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Narrow mouth, Camptodactyly, Spinal dysraphism, Omphalocele, Interphalangeal joint contracture of... ORPHA:96334
Ring Chromosome 13 Syndrome
Short philtrum, High palate, Epicanthus, Anencephaly, Anal atresia, Abnormality of the incisor, M... ORPHA:96176
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Upslanted palpebral fissure, Camptodactyly, Ptosis OMIM:613458
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Atrial septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebel... OMIM:300968
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Omphalocele, Umbilical hernia, Death in infancy, Neoplasm of the heart, M... ORPHA:2241
Aicardi-Goutieres Syndrome 1
Multiple gastric polyps, Acrocyanosis, Purpura, Cerebral atrophy, Microcephaly, Prolonged neonata... OMIM:225750
Fibrochondrogenesis
Camptodactyly of finger, Narrow mouth, Omphalocele, Cleft palate, Downslanted palpebral fissures ORPHA:2021
Cardiofaciocutaneous Syndrome 1
Open bite, Open mouth, Palpebral thickening, Absent eyebrow, Cerebral cortical atrophy, Downslant... OMIM:115150
Roifman Syndrome
Long philtrum, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular septal defe... OMIM:616651
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin vermilion border, Downturned corners of mouth, Patent ductus arteriosus, Laterally extended ... OMIM:610759
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Kleefstra Syndrome Due To A Point Mutation
Abnormal heart morphology, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morp... ORPHA:261652
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Highly arched eyebrow, Blepharophimosis, Sparse eyelashes... ORPHA:178303
Beck-Fahrner Syndrome
Long philtrum, Lacrimal duct stenosis, Open mouth, Ventricular septal defect, High palate, Ventri... OMIM:618798
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Coloboma, Branchial anomaly, Open mouth, Downturned corners of mouth, High palate, S... ORPHA:453499
Lateral Meningocele Syndrome
Long philtrum, Dental crowding, Patent ductus arteriosus, Smooth philtrum, Umbilical hernia, Arno... OMIM:130720
De Barsy Syndrome
Delayed eruption of teeth, Narrow mouth, Prominent veins on trunk, Ventricular septal defect, Sma... ORPHA:2962
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Cleft palate, Bifid uvula, Microcephaly, Submucous cleft hard palate ORPHA:2521
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Midline central nervous system lipomas, Iris coloboma, Bifid uvula, High palate, Downslanted palp... OMIM:155145
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Agenesis of corpus callosum, ... OMIM:174300
Vater/Vacterl Association
Spina bifida, Ventricular septal defect, Patent ductus arteriosus, Esophageal atresia, Anal atres... OMIM:192350
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Ventricular septal defect, Ventriculomegaly, Aganglionic megacolon, Patent ductus art... ORPHA:452
Ogden Syndrome
Ventricular septal defect, Ventriculomegaly, Cerebral atrophy, Inguinal hernia, Pulmonary artery ... ORPHA:276432
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Mosaic Trisomy 9
Camptodactyly of finger, Spina bifida, Atrial septal defect, Ventricular septal defect, Abnormal ... ORPHA:99776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Ventriculomegaly, Death in infancy, Smoot... OMIM:235255
Cardiofaciocutaneous Syndrome
Long philtrum, Atrial septal defect, Abnormal heart valve morphology, Abnormal eyelash morphology... ORPHA:1340
Autosomal Recessive Multiple Pterygium Syndrome
Arthrogryposis multiplex congenita, Oral cleft, Spina bifida occulta, Antecubital pterygium, High... ORPHA:2990
19P13.12 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Atrial septal defect, Arthrogryposis multiplex congenita, V... ORPHA:254346
Bladder Exstrophy
Intestinal malrotation, Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Long philtrum, Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Hypoplasia... OMIM:617452
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
C Syndrome
Long philtrum, Thin vermilion border, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplas... ORPHA:1308
Arterial Tortuosity Syndrome
Long philtrum, Hiatus hernia, Ventricular hypertrophy, Aortic tortuosity, Blepharophimosis, Gener... OMIM:208050
Distal Monosomy 15Q
Short philtrum, Blepharophimosis, Double outlet right ventricle with doubly committed ventricular... ORPHA:1596
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Jacobsen Syndrome
Intestinal malrotation, Iris coloboma, Death in infancy, Eyelid coloboma, Downslanted palpebral f... ORPHA:2308
Cri-Du-Chat Syndrome
Short philtrum, Diastasis recti, Downturned corners of mouth, Premature graying of hair, High pal... OMIM:123450
Oeis Complex
Duplicated colon, Intestinal malrotation, Omphalocele, Anteriorly placed anus, Rectovaginal fistu... OMIM:258040
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Long philtrum, Highly arched eyebrow, Atrial septal defect, Aplasia/Hypoplasia of the corpus call... ORPHA:505237
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Cardiomegaly, Micr... OMIM:601005
Fetal Encasement Syndrome
Omphalocele, Protruding tongue, Congenital diaphragmatic hernia, Microcephaly, Tetralogy of Fallot OMIM:613630
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Fraser Syndrome
Lacrimal duct aplasia, Dental crowding, Anal stenosis, High palate, Death in infancy, Omphalocele... ORPHA:2052
Pallister-Killian Syndrome
Intestinal malrotation, Patent ductus arteriosus, Omphalocele, Congenital diaphragmatic hernia, L... OMIM:601803
Apnea, Central Sleep
Cyanosis OMIM:207720
Schilbach-Rott Syndrome
Narrow mouth, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Bifid uvula, Microcephal... OMIM:164220
Zttk Syndrome
Thin vermilion border, Sparse eyebrow, Narrow mouth, Downturned corners of mouth, Patent ductus a... OMIM:617140
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Keloids, Periventricular leukomalacia, Microcephaly ORPHA:357225
Postsynaptic Congenital Myasthenic Syndromes
High palate, Cyanosis, Ptosis ORPHA:98913
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Abnormal eyelid morpholo... ORPHA:1812
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Ascending aortic d... OMIM:609192
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Camptodactyly of toe, Epicanthus, Di... OMIM:114300
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Esophageal atresia, Smooth philtrum, Downslanted palpebral fissures, Cleft ... OMIM:614526
Kagami-Ogata Syndrome
Pursed lips, Diastasis recti, Blepharophimosis, Large placenta, Omphalocele, Inguinal hernia, Bro... ORPHA:254519
Frank-Ter Haar Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Camptodactyly, Wide mouth, Double o... OMIM:249420
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Camptodactyly, Patent ductus arteriosus, Dilatation of mesenteri... OMIM:610168
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Camptodactyly, Spina bifida occul... OMIM:235510
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Arnold-Chiari malformation, Hydrocephalus, Absent septu... ORPHA:87
7Q11.23 Microduplication Syndrome
Thin vermilion border, Narrow palpebral fissure, Patent ductus arteriosus, Cutis marmorata, Conge... ORPHA:96121
Distal Monosomy 3P
Long philtrum, Thin vermilion border, Downturned corners of mouth, Blepharophimosis, High palate,... ORPHA:1620
Johnson Neuroectodermal Syndrome
Carious teeth, Absent eyelashes, Ventricular septal defect, Patent ductus arteriosus, Absent eyeb... OMIM:147770
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal dental enamel morphology, Omphalocele, Absent eyebrow, Erythema, Cerebral cortical atrop... ORPHA:2273
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Camptodactyly, Cerebellar vermis hypoplasia, Upslanted palpebral fissu... OMIM:619123
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect ORPHA:306550
Char Syndrome
Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arteriosus,... ORPHA:46627
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Blepharophimosis, Ventricular septal defect, Abnormal heart morphology, H... ORPHA:494344
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Spina bifida occulta, M... OMIM:619227
Holoprosencephaly 3
Cyclopia, Holoprosencephaly, Ventriculomegaly, Solitary median maxillary central incisor, Cleft l... OMIM:142945
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Ventriculomegaly, Flexion contracture, Cerebellar hypoplasia, Unilater... OMIM:616897
Histiocytoid Cardiomyopathy
Cerebellar malformation, Hydrocephalus, Ventricular septal defect, Cardiomegaly, Cleft palate, Cy... ORPHA:137675
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Lacrimal duct atresia, Absent eyelashes, Ventricular septal defect, Patent ductus arteriosus, Ank... OMIM:106260
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Thin vermilion border, Absent eyelashes, Wide mouth, Umbilical hernia, O... ORPHA:920
Microform Holoprosencephaly
Panhypopituitarism, Short philtrum, Cyclopia, Holoprosencephaly, Iris coloboma, Tented upper lip ... ORPHA:280200
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Anal atresia, Omphalocele OMIM:601389
Myhre Syndrome
Thin vermilion border, Narrow mouth, Blepharophimosis, Femoral hernia, Gingival cleft, Unilateral... ORPHA:2588
Kleefstra Syndrome
Downturned corners of mouth, Cerebral cortical atrophy, Pulmonary artery stenosis, Exaggerated cu... ORPHA:261494
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Coa... ORPHA:2008
19P13.3 Microduplication Syndrome
Short philtrum, Narrow mouth, Ventricular septal defect, Upslanted palpebral fissure, Cerebral at... ORPHA:447980
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Umbilical hernia, Inguinal hernia, Aortic rupture, Cleft soft palate, B... OMIM:614557
Coffin-Siris Syndrome 11
Downturned corners of mouth, Esophageal atresia, Wide mouth, Bifid uvula, High palate, Cleft soft... OMIM:618779
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Restrictive Dermopathy, Lethal
Atrial septal defect, Short umbilical cord, Narrow mouth, Blepharophimosis, Sparse eyelashes, Abs... OMIM:275210
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Patent ductus arteriosu... OMIM:615355
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Downturned corners of mouth, Bladder exstrophy, Eyelid colo... ORPHA:1299
Greenberg Dysplasia
Tooth malposition, Stillbirth, Intestinal malrotation, Omphalocele, Neonatal death, Cardiomegaly,... OMIM:215140
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Upslant... ORPHA:163979
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sparse eyelashes, Ventricular septa... ORPHA:1071
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Lacrimal duct stenosis, Downturned corners of mouth, Ventricular septal def... ORPHA:457193
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Submucous cleft hard palate OMIM:601492
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Volvulus, Subcutaneous hemorrhage, C... ORPHA:335