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Gene: Adamts6 MGI:1347348

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Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6
Synonyms:
b2b2228Clo,  ADAM-TS6,  A930019D11Rik,  b2b2029Clo,  b2b2187.1Clo,  b2b2182Clo,  b2b1879.1Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Adamts6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal kidney morphology Adamts6em1(IMPC)Mbp HET Early adult 0.00
edema Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal limb morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Adamts6em1(IMPC)Mbp HET E15.5 0.00
abnormal head shape Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
small kidney Adamts6em1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Adamts6em1(IMPC)Mbp HET   Early adult 7.15×10-07
abnormal eye morphology Adamts6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Adamts6em1(IMPC)Mbp HET E15.5 0.00
cleft palate Adamts6em1(IMPC)Mbp HOM E15.5 0.00
cataract Adamts6em1(IMPC)Mbp HET   Early adult 1.38×10-06
abnormal craniofacial morphology Adamts6em1(IMPC)Mbp HET E15.5 0.00
abnormal placenta vasculature Adamts6em1(IMPC)Mbp HOM E15.5 0.00

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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.

Gross Morphology Embryo E14.5-E15.5

Images

31 Images

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Human diseases caused by Adamts6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adamts6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Fetal akinesia sequence, Hydrops fetalis, Thoraci... OMIM:617022
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Hepatomegaly, Fetal peric... OMIM:619462
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Left atrial enlargement, Decreased muscle glycogen content, Stroke,... OMIM:611556
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Right aortic arch, Tra... OMIM:231060
Nemaline Myopathy 9
Polyhydramnios, Fetal akinesia sequence, High palate, Ventricular septal defect, Breech presentat... OMIM:615731
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia, Ventricular septal defect, I... ORPHA:3405
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... ORPHA:1909
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, Levotransp... ORPHA:860
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth, Ventricular septal defect OMIM:270460
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertro... OMIM:620135
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis, Anteverted na... OMIM:613124
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, High palate, Wide nasal bridge, Atrial s... ORPHA:3304
Fetal Parvovirus Syndrome
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Thrombocytopenia, Ascites, Increased nuchal... ORPHA:295
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Thoracic kyphosis, Elbow flexion co... ORPHA:206546
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ventricular septal defect, Shor... OMIM:617877
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... OMIM:220210
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... ORPHA:353
Transaldolase Deficiency
Anemia, Hydrops fetalis, Atrial septal defect, Hepatosplenomegaly, Coarctation of aorta, Biventri... ORPHA:101028
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Double outlet right ventricle, Vertebral fusion, Patent ductus arteriosus, Bicuspi... OMIM:618845
Pierre Robin Syndrome
Cor pulmonale, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Sandestig-Stefanova Syndrome
Convex nasal ridge, High palate, Wide nasal bridge, Perimembranous ventricular septal defect, Dec... OMIM:618804
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... OMIM:613854
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, S... ORPHA:261120
Infantile Sialic Acid Storage Disease
Premature birth, Metaphyseal irregularity, Hydrops fetalis, High palate, Hepatomegaly, Anteverted... OMIM:269920
Burn-Mckeown Syndrome
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... ORPHA:1200
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Ventricular septal hypertrophy... OMIM:618052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Hype... OMIM:253700
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Long p... ORPHA:477817
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... ORPHA:1457
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Microcephaly-Capillary Malformation Syndrome
Wide nose, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Short nose, Cle... OMIM:614261
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cantu Syndrome
Patent ductus arteriosus, Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Lo... OMIM:239850
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hypogonadism, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, ... OMIM:608540
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Fetal ascites... OMIM:215045
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Perimembranous ventricular septa... OMIM:608104
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Mulibrey Nanism
Wide nose, Dental malocclusion, Enamel hypoplasia, Hydrops fetalis, Pericardial constriction, Wid... OMIM:253250
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Abnormal heart morphology, Congenital malformation of the gre... ORPHA:294975
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:614676
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:3426
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Perimembranous ventricular sep... OMIM:618205
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Thick upper lip vermilion, Dental malocclusion, Perimembranous ventricu... ORPHA:363444
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Decreased fetal movement, Tongue fasciculatio... OMIM:253300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect OMIM:619170
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Spinal ri... ORPHA:324604
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec... ORPHA:3384
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wide nasal bridge, Short femur, Pleural effusion, Hypertrophic cardiomyopathy, Cl... OMIM:616897
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Smooth philtrum, Patent foramen ovale, Double outlet right ventricle, Prominen... OMIM:618316
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Eng-Strom Syndrome
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Arteriovenous malformation, Abnormal aortic arch morphology, Downturned corne... ORPHA:1110
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Long nasal bridge, Muscular ventricular septal defect, Macrocytic anemia, Cryptorchidism OMIM:620071
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, High palate, Limb hypertonia, Wide nasal bridge, Pericardial effusion, Decreased ... OMIM:620070
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
17Q21.31 Microduplication Syndrome
High palate, Toe syndactyly, Short philtrum, Clinodactyly of the 5th finger, Short nose, Delayed ... ORPHA:217340
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Long philtrum, Wide nasal bridge, Atrial septal de... ORPHA:401935
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis OMIM:620062
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Cleft upper lip, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum at... OMIM:600987
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Ring Chromosome 8 Syndrome
Polyhydramnios, Short nose, Abnormal palate morphology, Anteverted nares, Deviation of finger ORPHA:1450
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Short neck, Anteverted nares... ORPHA:2015
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Narrow mouth, Scoliosis, Thin vermilion border, A... ORPHA:2370
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, High palate, Conotruncal defect, Abnormality of the calcaneus, Hyp... ORPHA:40366
8P23.1 Duplication Syndrome
Wide nose, Long philtrum, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, ... ORPHA:251076
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Perimembranous v... OMIM:158170
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Left ventricular hypertrophy, Oligohydramnios, Myopathy, Hepatomegaly, Cardiomega... OMIM:617713
Fetal Trimethadione Syndrome
High palate, Ventricular septal defect, Atrial septal defect, Short nose, Depressed nasal bridge,... ORPHA:1913
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Gm1-Gangliosidosis, Type I
Splenomegaly, Hydrops fetalis, Depressed nasal ridge, Kyphosis, Vacuolated lymphocytes, Dilated c... OMIM:230500
Fetal Gaucher Disease
Fetal akinesia sequence, Hydrops fetalis, High palate, Decreased fetal movement, Intracranial hem... ORPHA:85212
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly, Abnormality of limb bone morphology ORPHA:2204
Noonan Syndrome 8
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy... OMIM:615355
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Short philtrum, Atrial septa... OMIM:608227
Mucopolysaccharidosis, Type X
Hyperlordosis, Long philtrum, Wide nasal bridge, Widely spaced teeth, Thickened aortic valve cusp... OMIM:619698
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Short nose, Antev... OMIM:618619
Aniridia 3
Cataract OMIM:617142
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, High palate, Small hand, Clinodactyly, Short nose, Short foot, Macrodontia OMIM:300577
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Long philtrum, Short foot, Multiple rib fractures, Short nose, A... ORPHA:93299
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Long philtrum, Short nose, Anteverted nares, Abnormal rib morpho... ORPHA:93298
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Polyhydramnios, Asplenia, Butterfly vertebrae, Nonimmune hydrops f... OMIM:265380
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At... OMIM:616898
Congenital Gerbode Defect
Pedal edema, Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembrano... ORPHA:99095
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Short palm, Narrow greater sciatic notch,... OMIM:228520
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi... OMIM:619717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventr... OMIM:613156
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Vertebral s... ORPHA:1166
Myofibrillar Myopathy 10
Knee flexion contracture, Kyphosis, Elbow flexion contracture, Left ventricular hypertrophy, EMG:... OMIM:619040
Fetal Minoxidil Syndrome
Depressed nasal bridge, Ventricular septal defect, Cryptorchidism ORPHA:1918
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Submucous cleft har... OMIM:619227
Cardiomyopathy, Dilated, 2D
Patent foramen ovale, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Muscular ventricular... OMIM:619371
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Anemia, Hydrops fetalis, Oligohydramnios, Pericarditis, Hepatomegaly, Preeclampsi... ORPHA:163596
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Genu varum, Hydrops fetalis, Metaphyseal cupping, Abnormal carpal morphology, Sho... ORPHA:85166
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertroph... OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... OMIM:115197
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Hepatosplenomegaly, Edema, Skeletal mu... OMIM:232500
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Short philtrum, Atrial septal defect, Muscular ventricular septal defect, Broad nasa... OMIM:618354
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Short neck, Hypoparathyroidism, Depressed nasal ti... OMIM:618223
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hydrops fetalis, Hepatomegaly, Ascites, Pulmonic stenosis OMIM:619433
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... ORPHA:1041
Cardiac Valvular Dysplasia 1
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... OMIM:212093
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Everted l... OMIM:249670
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Ethanolaminosis
Cardiomegaly OMIM:227150
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotroph... ORPHA:169186
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Mmep Syndrome
Cryptorchidism, Orofacial cleft, Ventricular septal defect, Median cleft lip ORPHA:3434
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Oral synechia, Atrial septal defect, Scoliosi... ORPHA:1388
Neuraminidase Deficiency
Hydrops fetalis, Skeletal muscle atrophy, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Asc... OMIM:256550
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Ventricular septal defect, High palate, Narrow naris, Bif... OMIM:616145
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Decreased response to growth h... ORPHA:1263
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Wide nose, High palate, Ventricular septal defect, Wide nasal bridge, Low insertio... OMIM:619995
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... OMIM:619657
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverte... OMIM:618506
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Polyhydramnios, Anemia, Hydrops fetalis, Thrombocytopenia, Hepatomegaly... ORPHA:2123
Sotos Syndrome
Patent ductus arteriosus, Enlarged naris, Narrow palate, Ventricular septal defect, High palate, ... OMIM:117550
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal nostril morphology, Ventricular septal defect, Anal atresia, Atrial sept... ORPHA:3469
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrops fetalis, Short middle phalanx of the 4th finger, Radioulnar synostosis, Hydrocele... OMIM:616738
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Tetralogy of Fallot OMIM:300887
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Hepatomegaly, Ascites, Pulmoni... ORPHA:2414
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Trisomy 1Q
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Wide nose, Ve... ORPHA:261344
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphosis, Perimembranous ventricular septal defect, Thick lower lip ve... OMIM:301040
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Hydrops fetalis, Abnormality of the pulmonary artery, Atrial septal def... ORPHA:90308
Scimitar Syndrome
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... ORPHA:185
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract 42
Cataract, Developmental cataract OMIM:115900
Tetralogy Of Fallot
Abnormal nasal morphology, Thin vermilion border, Tetralogy of Fallot, Cryptorchidism ORPHA:3303
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Clef... OMIM:214300
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Long philtrum, Short nose, Anteverted nares, Thickened nuchal sk... ORPHA:932
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Hepatomegaly OMIM:619048
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Trisomy 13
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Kyphosis, Long philtrum, At... ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Pineal cyst, Left ventricular noncompaction, Submucous cleft soft palate, Deviated nasal septum, ... OMIM:300967
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Ascending tubula... ORPHA:3092
Hadziselimovic Syndrome
Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ... OMIM:612946
Even-Plus Syndrome
Vertebral clefting, Patent foramen ovale, High palate, Depressed nasal ridge, Hypodontia, Anal at... OMIM:616854
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Polyhydramnios, Narrow palate, Jejunal atresia, T... OMIM:612949
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Aortopul... OMIM:208530
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gombo Syndrome
Microphthalmia OMIM:233270
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Noonan Syndrome 10
Patent ductus arteriosus, High palate, Ventricular septal defect, Mitral stenosis, Mitral valve p... OMIM:616564
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Lymphatic Malformation 7
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... OMIM:617300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Nephrogenic diabetes insipidus, Arthrogryposis m... OMIM:208085
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Volvulus, Decreased testicular size, Left ventricular hypertrophy, Sple... ORPHA:335
Atrial Fibrillation, Familial, 10
Left ventricular hypertrophy, Left atrial enlargement, Right ventricular dilatation, Stroke OMIM:614022
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Cleft palate, Ventricular septal defect, Truncus arteriosus OMIM:601355
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, High palate, Cen... OMIM:255320
Gm1 Gangliosidosis
Camptodactyly of finger, Hepatosplenomegaly, Gingival overgrowth, Splenomegaly, Abnormal form of ... ORPHA:354
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Diabetes mellitus, Stroke-like episode, Myopathy, Ragged-red muscle... OMIM:540000
Loeffler Endocarditis
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... ORPHA:75566
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares ORPHA:1355
Verheij Syndrome
Vertebral fusion, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge, Short nos... OMIM:615583
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Spinal canal stenosis, Tendon r... ORPHA:85451
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 25
Vascular dilatation, Decreased response to growth hormone stimulation test, Long philtrum, Wide n... OMIM:616430
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Abnormal cardiac septum morphology, Kyphosis, Pericardial effusion, Wide mouth, De... OMIM:608776
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Left ventricular hypertrophy, Prolactinoma, Pituit... OMIM:102200
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect, Hepatomegaly OMIM:614876
King-Denborough Syndrome
High palate, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Ventricular septal... OMIM:619542
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Pedal edema, Atrial septal defect, Muscular ventricular septal defect, Card... ORPHA:439
Immunodeficiency 42
Recurrent aphthous stomatitis, Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Holoprosencephaly 13, X-Linked
Vertebral clefting, Patent foramen ovale, Double outlet right ventricle, Patent ductus arteriosus... OMIM:301043
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Ventricular septal defect, Long philtrum, Esophageal ... ORPHA:2209
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... OMIM:613759
Mosaic Trisomy 9
Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, High palate, ... ORPHA:99776
Congenital Tricuspid Valve Dysplasia
Premature birth, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid val... ORPHA:555874
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Asplenia, Hepatomegal... OMIM:306955
Oculoauriculofrontonasal Syndrome
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Narrow mouth, Scoliosis, Cleft l... ORPHA:398156
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Kyphosis, Lymphedema, Predo... OMIM:153400
Noonan Syndrome 12
Polyhydramnios, Decreased response to growth hormone stimulation test, Ventricular septal defect,... OMIM:618624
Meckel Syndrome, Type 7
Patent ductus arteriosus, Pancreatic cysts, Atrial septal defect, Hepatosplenomegaly, Oligohydram... OMIM:267010
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Hypoplastic pubic bone, Hypoplastic ilia, Wide nasal bridge, Short ribs, Short l... ORPHA:1865
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Decreased fetal moveme... OMIM:616816
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Pulmonary artery stenosis, Double ou... OMIM:600001
Acromicric Dysplasia
Long philtrum, Short metacarpal, Fifth metacarpal with ulnar notch, Thick lower lip vermilion, Sm... ORPHA:969
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Depress... ORPHA:83473
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Flexion contracture, Hydrops fetalis, Kyphosis, Widely spac... OMIM:253220
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Endocardial fibrosis, Hypertrophic card... OMIM:608751
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... ORPHA:2516
Adams-Oliver Syndrome 5
Patent foramen ovale, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Esophageal vari... OMIM:616028
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Achondrogenesis, Type Ii
Horizontal ribs, Polyhydramnios, Hypoplastic iliac wing, Hydrops fetalis, Long philtrum, Short tu... OMIM:200610
Mungan Syndrome
Perimembranous ventricular septal defect, Megaduodenum, Pulmonic stenosis, Intestinal pseudo-obst... OMIM:611376
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Wide nose, High palate, Ventricular septal d... OMIM:616652
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hydrops fetalis, High palate, Short ribs, Short lingual frenulum, Microdontia, Short... OMIM:614091
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Oligohydramnios OMIM:616733
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Arthrogryposis multiplex congenita, Hepatomegaly, Right ventricular hy... OMIM:613404
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Cardiomegaly, Lower limb muscle weakness, Calf muscle hypertrophy, Spinal rigidity... ORPHA:268
Sialidosis Type 2
Pedal edema, Flexion contracture, Hydrops fetalis, Kyphosis, Skeletal muscle atrophy, Hepatomegal... ORPHA:87876
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Schneckenbecken Dysplasia
Polyhydramnios, Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of car... OMIM:269250
Alpha-Thalassemia
Anemia, Hydrops fetalis, Hemolytic anemia, Hypersplenism, Cholelithiasis, Abnormal hemoglobin, Sp... ORPHA:846
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Microphthalmia, Syndromic 12
Ventricular septal defect, Wide nasal bridge, Hypoplastic left atrium, Congenital diaphragmatic h... OMIM:615524
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Cam... OMIM:235510
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Hypothyroidism, Ventricular septal defect, Esophageal... ORPHA:1923
Lymphatic Malformation 6
Polyhydramnios, Hypothyroidism, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Hydr... OMIM:616843
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Intellectual Developmental Disorder, Autosomal Dominant 47
Widely-spaced incisors, Ventricular septal defect, Wide mouth, Supernumerary nipple, Scoliosis, I... OMIM:617635
Mogs-Cdg
Wide nose, Polyhydramnios, Hypothyroidism, Thoracic scoliosis, High palate, Pulmonary edema, Left... ORPHA:79330
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Microd... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Cardioacrofacial Dysplasia 1
Conical tooth, Atrioventricular canal defect, Genu valgum, Overhanging nasal tip, Short philtrum,... OMIM:619142
Bronchopulmonary Dysplasia
Premature birth, Right ventricular hypertrophy ORPHA:70589
Maxillonasal Dysplasia
Vertebral clefting, Abnormal nostril morphology, Patchy distortion of vertebrae, Depressed nasal ... ORPHA:1248
Roifman Syndrome
Premature birth, Biconvex vertebral bodies, Underdeveloped nasal alae, Irregular vertebral endpla... OMIM:616651
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Flaring of rib cage, Short ribs, Bowing of the arm, Hypoplasia o... OMIM:200600
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Polyhydramnios, Enamel hypoplasia, Enterocolitis, Ventricular septal defect, Jejunal atresia, Hyp... OMIM:243150
Lowry-Maclean Syndrome
Convex nasal ridge, Diaphragmatic eventration, Delayed eruption of teeth, Abnormal heart morpholo... OMIM:600252
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
3C Syndrome
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Short neck, Cleft palate, Orofaci... ORPHA:7
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Hydrocele testis, ... OMIM:620014
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Hypoplastic ilia, Short ribs, Breech presentation, Edema OMIM:600972
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Cleft upper lip, Ventricular septal defect, Mi... OMIM:612561
Tangier Disease
Atherosclerosis, Left ventricular hypertrophy, Facial diplegia, Hepatomegaly, Coronary artery ath... OMIM:205400
German Syndrome
Camptodactyly of finger, High palate, Abnormal cardiac septum morphology, Lymphedema, Wide nasal ... ORPHA:2077
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Perimembranous ventricular septal defect, Secundum atrial septal defect, Short nose, S... OMIM:608779
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
15Q14 Microdeletion Syndrome
Convex nasal ridge, Ventricular septal defect, Kyphosis, Long philtrum, Short philtrum, Atrial se... ORPHA:261190
Phenobarbital Embryopathy
Unilateral cleft lip, Tetralogy of Fallot, Abnormal nasal base norphology, Abnormal mitral valve ... ORPHA:1919
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract OMIM:619813
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
9q subtelomeric deletion syndrome
Protruding tongue, Abnormal heart morphology, Anteverted nares, Short nose DECIPHER:52
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, High palate, Long philtrum, Kyphosis, Generalized limb muscle atrophy, Short nose, Delaye... ORPHA:2598
Primary Ciliary Dyskinesia
Double outlet right ventricle, Asplenia, Nasal congestion, Polysplenia, Atrial situs ambiguous, N... ORPHA:244
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi... OMIM:605376
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Decreased circulating osteocalcin level, Short nose, Central diabetes i... OMIM:125700
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Camptodactyly, Butterfly vertebrae, Short neck, Smooth philtrum, Cleft palate,... OMIM:611209
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Thin lower lip vermilion, Ging... ORPHA:280633
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Asymmetric septal hypertrophy, Ventric... OMIM:608758
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... OMIM:155050
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Anal atresia, Abnormal sacrum morphology, Abnormal verte... ORPHA:2345
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomegaly, Premature ... OMIM:618838
Stickler Syndrome Type 1
Long philtrum, Mitral valve prolapse, Short nose, Platyspondyly, Cleft palate, Abnormality of ver... ORPHA:90653
Woods Syndrome
Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Thin vermilion border, Low ha... OMIM:615236
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Bifid thoracic vertebrae, Bifid nose, Coarctation of ... ORPHA:268249
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Deep philtrum, Thick lower lip vermilion, Short nose, Hypertrophic cardiomyopathy, Abnormal inter... ORPHA:2701
Codas Syndrome
Ventricular septal defect, Delayed eruption of teeth, Abnormality of dental morphology, Short nos... ORPHA:1458
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, In... ORPHA:1727
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Trichomegaly
Cataract OMIM:190330
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Long philtrum, Short nose, Downturned corners of mouth, Narrow mouth, Thin... ORPHA:1906
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Pulmonary artery steno... ORPHA:79345
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Asymmetric septal hypertrophy OMIM:613838
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Vascular dilatation, Hypoplasia of the thymus, Long philtrum, Morgagni diap... OMIM:613177
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Apert Syndrome
Dental malocclusion, Choanal stenosis, Narrow palate, Ventricular septal defect, Ectopic anus, De... OMIM:101200
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, High palate, Hip contracture, Bifid uvula, Camptodactyly of toe, Clinoda... OMIM:619110
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Hypoplastic left heart, Cleft palate ORPHA:2476
Alg12-Cdg
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Wide nose, B lymphocytopenia, Cam... ORPHA:79324
Microform Holoprosencephaly
Hypothyroidism, Maternal diabetes, Short philtrum, Duodenal atresia, Panhypopituitarism, EMG: myo... ORPHA:280200
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Down Syndrome
Atrioventricular canal defect, Hypothyroidism, Pulmonary artery stenosis, Myeloproliferative diso... OMIM:190685
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Wide nasal bridge, Secundum atrial septal defect, Hep... OMIM:612541
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip, Oligohydramnios ORPHA:3316
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum ORPHA:46
Campomelia, Cumming Type
Pancreatic cysts, Hydrops fetalis, Lymphedema, Clubbing of toes, Oligohydramnios, Abnormal intest... ORPHA:1318
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... OMIM:619343
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Hyposmia, Atrial septal defect... OMIM:615996
Clark-Baraitser Syndrome
High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Short nose, Thin upper lip ... OMIM:617752
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Hydrops fetalis, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal e... ORPHA:766
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, High palate, Ventricular septal defect, Wide nasal bridge, Broad alveolar ridges OMIM:314320
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Double outlet right ventricle, Total anosmia, Short lingual frenulum, Decreas... ORPHA:2326
Ogden Syndrome
Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Secundum atrial septal... OMIM:300855
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... OMIM:178600
Mgat2-Cdg
Patent ductus arteriosus, Hydrops fetalis, Convex nasal ridge, Ventricular septal defect, Kyphosi... ORPHA:79329
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Overhanging nasal tip, Ventricular septal defect, Long philtrum, Bulbous no... OMIM:618494
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Cataract, Renal insufficiency OMIM:615995
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Sideroblastic anemia, Oligohydramnios, Throm... OMIM:617021
Filippi Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Hypodontia, Microdontia,... OMIM:272440
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft p... OMIM:611867
Congenital Enterovirus Infection
Polyhydramnios, Leukopenia, Hydrops fetalis, Anemia, Neutropenia, Abnormal macrophage morphology,... ORPHA:292
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Oligodontia, Atrial septal defect, Thin uppe... OMIM:618330
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism OMIM:615542
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Wide nasal bridge, Pulmonary lymphangiectasia, Nonimmune hydrops fet... OMIM:265300
Gaucher Disease, Perinatal Lethal
Premature birth, Polyhydramnios, Splenomegaly, Desquamation of skin soon after birth, Anemia, Eve... OMIM:608013
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Gingival overgr... OMIM:619148
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Burn-Mckeown Syndrome
Underdeveloped nasal alae, Cleft upper lip, Ventricular septal defect, Bilateral choanal atresia/... OMIM:608572
Isolated Dandy-Walker Malformation
Encephalocele, Prominent occiput, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Nanophthalmos
Microphthalmia ORPHA:35612
Meckel Syndrome, Type 8
Cleft upper lip, Depressed nasal ridge, Pericardial effusion, Enlarged kidney, Short nose, Short ... OMIM:613885
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Ventricular septal defect, Wide ... ORPHA:3369
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate ORPHA:94066
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis OMIM:613873
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip, Hand polydactyly OMIM:236110
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Depressed nasal bridge... OMIM:617616
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia of the nose, Vertebral segmentation defect, Median cleft lip, Tetralo... ORPHA:3186
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Diprosopus
Non-midline cleft lip, Abnormality of the nose, Abnormal cardiac septum morphology, Cleft palate ORPHA:1681
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Pedal edema, Abnor... ORPHA:2299
8Q12 Microduplication Syndrome
Long philtrum, Ventricular septal defect, Wide nasal bridge, Atrial septal defect, Everted lower ... ORPHA:228399
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia, Absen... ORPHA:210122
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Long philtrum, Beaking of vertebral bodies T12-L3, Macroglossia, Hypoplastic ver... ORPHA:79255
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, High palate, Ventricular septal defect, Kyphosis, Camptodactyly, Anal atres... OMIM:617602
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Bicuspid aortic va... ORPHA:371428
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Downturned corners of ... OMIM:618974
Familial Dilated Cardiomyopathy
Coronary artery atherosclerosis, Left ventricular hypertrophy, Right ventricular dilatation ORPHA:217607
Braddock-Carey Syndrome 1
Hyperlordosis, Enamel hypoplasia, Pierre-Robin sequence, Ventricular septal defect, Wide nasal br... OMIM:619980
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Anemia, Ventricular septal defect, Wide mouth, De... OMIM:606003
Nanophthalmos 4
Microphthalmia OMIM:615972
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Wide nasal bridge, Decre... OMIM:614886
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Ventricular septal defect, Long philtrum, Wide mouth, Decreased testicular ... OMIM:157800
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Prominent super... OMIM:153100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Abnormal muscle glycogen content, D... ORPHA:367
Cardiac-Valvular Ehlers-Danlos Syndrome
Thoracolumbar scoliosis, Aortic root aneurysm, High palate, Mitral valve prolapse, Left ventricul... ORPHA:230851
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Ventricular septal defect, Short neck, Cleft palate, Abnormality of... OMIM:609654
Idiopathic Pulmonary Arterial Hypertension
Pedal edema, Edema of the dorsum of feet, Chronic hemolytic anemia, Abnormal jugular vein morphol... ORPHA:275766
Non-Distal Trisomy 10Q
Convex nasal ridge, High palate, Short nose, Everted lower lip vermilion, Depressed nasal bridge,... ORPHA:1695
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Patent foramen ovale, Prominent nose, Ventricular septal defect, Left ventr... ORPHA:466791
Peripartum Cardiomyopathy
Pedal edema, Anemia, Abnormality of thyroid physiology, Abnormal atrioventricular valve morpholog... ORPHA:563
Alg9-Cdg
Convex nasal ridge, Pericardial effusion, Abnormal left ventricular outflow tract morphology, Bif... ORPHA:79328
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Left ventricular hypertrophy, Scoliosis ORPHA:93952
Ververi-Brady Syndrome
Wide nose, High palate, Prominent nose, Wide mouth, Everted lower lip vermilion, Thin upper lip v... OMIM:617982
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long philtrum, Coxa vara, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Short nose, ... OMIM:619736
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Atrial septal defect, Depressed n... OMIM:616546
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Hydrops fetalis, Lymphedema, Arteriovenous malformation, Sh... ORPHA:584
Mullegama-Klein-Martinez Syndrome
Prominent nose, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge, Short philt... OMIM:301022
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Conge... OMIM:309801
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,... ORPHA:251071
Tyshchenko Syndrome
Premature birth, Polyhydramnios, Narrow palate, Ventricular septal defect, High palate, Supernume... OMIM:615102
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... OMIM:217085
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Bifid uvula, Camptodactyly, Sh... OMIM:612474
Coffin-Siris Syndrome 7
Wide nose, Patent foramen ovale, Polyhydramnios, Convex nasal ridge, Ventricular septal defect, W... OMIM:618027
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Short... ORPHA:50945
Pituitary Gigantism
Increased circulating prolactin concentration, Type II diabetes mellitus, Left ventricular hypert... ORPHA:99725
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Microdontia, Atrial septal defect, Bilateral triphalangeal thumbs, Short dist... OMIM:619356
Hennekam Syndrome
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Toot... ORPHA:2136
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal def... ORPHA:508498
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Hypertro... OMIM:615418
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidi... OMIM:618652
Miller-Dieker Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Abnormal upper lip morphology, Short nose, Anteve... ORPHA:531
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Polyhydramnios, Leukopenia, Ventricular septal defect, Pulmonic st... OMIM:301056
Dilated Cardiomyopathy With Ataxia
Hypothyroidism, Normochromic microcytic anemia, Diaphragmatic eventration, Generalized amyotrophy... ORPHA:66634
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Iliac crest serration, Vascular dilatation, Metaphyseal cupping, Deep philtrum, Short ... OMIM:613320
Diamond-Blackfan Anemia 7
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Neutropenia, Secundum atrial... OMIM:612562
Primary Non-Essential Cutis Verticis Gyrata
Scoliosis, Ventricular septal defect, Atrial septal defect ORPHA:357225
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Ventricular septal defect, Long philtrum, Natal tooth, Wide nasal bridge, H... OMIM:145420
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Ventricular septal defect, Bilateral cleft lip, Short femur, Bilateral cleft pal... OMIM:601357
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Vertebral segmentation defect, Atrial septal defect, Short no... ORPHA:1915
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Skeletal myopathy, Left ventricular hypertrophy, Noncompaction cardiomy... ORPHA:3208
17P13.3 Microduplication Syndrome
Wide nose, High palate, Clinodactyly of the 5th finger, Short nose, Congenital hip dislocation, N... ORPHA:217385
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Decreased circulating renin level, Primary hyper... OMIM:615474
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Synaptic Congenital Myasthenic Syndromes
High palate, Type 1 muscle fiber predominance, Myopathy, Skeletal muscle atrophy, Type 2 muscle f... ORPHA:98915
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... ORPHA:251274
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Acrocephalopolydactyly
Depressed nasal ridge, Short long bone, Short nose, Hepatosplenomegaly, Brachydactyly ORPHA:221054
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Median cleft lip and palate, Short nose, Anteverted... ORPHA:1832
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect, Wide nasal bridge, Depressed nasal bridge, Cryptorchid... ORPHA:2256
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, High palate, Ventricular septal defect, Wide mouth, Widely spaced teeth, Wi... ORPHA:369891
Frank-Ter Haar Syndrome
Patent foramen ovale, Double outlet right ventricle, Dental malocclusion, High palate, Ventricula... OMIM:249420
Chung-Jansen Syndrome
High palate, Long philtrum, Tapered finger, Meconium stained amniotic fluid, Hip dysplasia, Short... OMIM:617991
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... OMIM:126320
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Long philtrum, Ventricular septal... OMIM:619189
Charge Syndrome
Polyhydramnios, Hypothyroidism, Gonadotropin deficiency, Secundum atrial septal defect, Parathyro... OMIM:214800
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Muscular ventricular septal defect, Intrinsic hand muscle atrophy, Wide nasal bridge OMIM:618569
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Hyperlordosis, Convex nasal ridge, Ventricular se... OMIM:618870
Viss Syndrome
Aortic tortuosity, Polyhydramnios, Hypothyroidism, Ascending tubular aorta aneurysm, Bifid tongue... OMIM:619472
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Flexion contracture, Premature thelarche, Convex nasal ridge, Wide nasal bridge, ... OMIM:180849
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Pierre-Robin sequence, Ventricular septal defect, Dental crowding, Elbo... OMIM:617201
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Convex nasal ridge, Tibial bowing, Nonimmune hydrops fetalis, Abnormal pelvi... OMIM:166210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft palate, Ascending a... OMIM:619503
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, High palate, Ventricular septal defect, Kyphosis, Long philtrum, Wide n... OMIM:617061
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pyloric stenosis, Camptodactyly, Arthrogryposis multiplex congenita, A... OMIM:614262
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short philtrum, Sh... OMIM:601224
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... OMIM:614078
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Wide nasal bridge, Exaggerated median tongue furrow, Supernumerary nipple, Hepato... OMIM:312870
Distal Trisomy 18Q
Camptodactyly of finger, High palate, Abnormality of dental morphology, Clinodactyly of the 5th f... ORPHA:1716
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Emanuel Syndrome
Truncus arteriosus, Recurrent sinusitis, Cleft palate, Sacral dimple, Ventricular septal defect, ... OMIM:609029
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Robinow Syndrome, Autosomal Dominant 3
Bifid tongue, Wide nasal bridge, Camptodactyly, Short neck, Cleft palate, Gingival overgrowth, Sa... OMIM:616894
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Aorto-Ventricular Tunnel