Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 6
Synonyms:
b2b2228Clo,  ADAM-TS6,  A930019D11Rik,  b2b2029Clo,  b2b2187.1Clo,  b2b2182Clo,  b2b1879.1Clo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal limb morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Adamts6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Adamts6em1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Adamts6em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Adamts6em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Adamts6em1(IMPC)Mbp HET E15.5 0.00
abnormal head shape Adamts6em1(IMPC)Mbp HOM E15.5 0.00
small kidney Adamts6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Adamts6em1(IMPC)Mbp HOM E15.5 0.00
cleft palate Adamts6em1(IMPC)Mbp HOM E15.5 0.00
cataract Adamts6em1(IMPC)Mbp HET Early adult 7.52×10-05
edema Adamts6em1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Adamts6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Adamts6em1(IMPC)Mbp HET E15.5 0.00
abnormal vitreous body morphology Adamts6em1(IMPC)Mbp HET Early adult 7.12×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Gross Morphology Embryo E14.5-E15.5

Images

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Lymphedema, Vascular ring, Broad nasal tip, Patent ductus arteriosus, Overriding... OMIM:601927
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Convex nasal ridge, Hydrops fetalis, Torticollis, Fetal akinesia se... OMIM:617022
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Fetal pericardial effusion, Fetal pleural effusion... OMIM:619462
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu... OMIM:611556
Nemaline Myopathy 9
Polyhydramnios, Breech presentation, Scoliosis, High palate, Nemaline bodies, Arthrogryposis mult... OMIM:615731
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Cleft upper lip, Cleft palate, Double out... OMIM:231060
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, An... ORPHA:3405
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Clubbing of fingers, 2-3 toe syndactyly, High palate, Persistent left supe... ORPHA:3304
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Anteverted nares, Adrenal hypoplasia, No... OMIM:613124
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Perimembranous ventricular septal defect, Transposition of the great arteries, Clinod... OMIM:617877
Sonoda Syndrome
Ventricular septal defect, Narrow mouth, Depressed nasal bridge OMIM:270460
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... OMIM:620135
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Hepatomegaly, Abnorm... ORPHA:860
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Thoracic kyphosis, Elbow flexion contracture, Abnormality of the shoulde... ORPHA:206546
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Anomalous origin of left coronary artery from the pulmonary artery, Vertebral segm... OMIM:618845
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Bicuspid aortic valve, Long philtrum, Cardiomegaly, Cox... OMIM:239850
Sandestig-Stefanova Syndrome
Rocker bottom foot, Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricul... OMIM:618804
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr... ORPHA:295
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Decreased response to growth hormone stimulation test, Hemivertebrae, Ad... OMIM:220210
14Q11.2 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ... ORPHA:261120
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Sandal gap, Aortic aneurysm, Wide nose, 2-3 toe syndactyly, Patent foramen ovale, ... ORPHA:477817
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormality of the vertebral column, Congenital malformation of the great arteries, ... ORPHA:294975
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Transaldolase Deficiency
Hydrops fetalis, Anemia, Coarctation of aorta, Hepatosplenomegaly, Thrombocytopenia, Edema, Atria... ORPHA:101028
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, A... OMIM:617021
Infantile Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Anteverted nares, Gingival overgrowth, Vacuolated lymphocytes, Hig... OMIM:269920
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Anteverted nares, Scoliosis, Gingival ... OMIM:179613
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Scoliosis, Calf muscle hypertrophy... ORPHA:353
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Cardio... ORPHA:171445
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Ventr... OMIM:600987
Burn-Mckeown Syndrome
Abnormal palate morphology, Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide n... ORPHA:1200
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Unilateral cleft lip, Cardiomegaly, Adducted thumb, Single umbilical artery, Hydrops fet... OMIM:616897
Congenital Disorder Of Glycosylation, Type Ih
Decreased fetal movement, Perimembranous ventricular septal defect, Protein-losing enteropathy, H... OMIM:608104
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Short philtrum, Anteverted nare... OMIM:618316
Chondrodysplasia, Blomstrand Type
Hydrops fetalis, Polyhydramnios, Flared metaphysis, Short ribs, Micromelia, Preductal coarctation... OMIM:215045
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy OMIM:612201
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Dislocated radial head, Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism,... ORPHA:401935
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Hepatomegaly, Cardiomyopathy, Abnormality of the amniotic fluid, Joint con... OMIM:608540
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Short nose, Clinodactyly of the 5th finger... ORPHA:2370
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:614676
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Brachydactyly, Adducted thum... OMIM:620062
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Patent foramen ovale, Cleft palate, Brachydactyly, Right ventricular hyper... OMIM:614261
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Polyhydramnios, Limb hypertonia, Aortic aneurysm, High palate, Multiple muscu... OMIM:620070
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Kyphoscoliosis, Wide nose, Skeletal muscle hypertrophy, Scoliosis, Ventr... OMIM:300280
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Dental m... ORPHA:363444
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Brachydactyly, Ventricular septal defect, Abnormal cardiac se... ORPHA:1937
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Widely spaced teeth, Scoliosis, High palate, Pulmonic s... OMIM:618205
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Abnormal form of the vertebr... ORPHA:1354
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... OMIM:612158
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Mulibrey Nanism
Hepatomegaly, Hydrops fetalis, Cardiomegaly, Wide nose, Hypodontia, Dental crowding, Ascites, Per... OMIM:253250
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Aplasia/Hypoplasi... ORPHA:3426
Birk-Aharoni Syndrome
Long nasal bridge, Muscular ventricular septal defect, Macrocytic anemia, Cryptorchidism OMIM:620071
Classic Multiminicore Myopathy
Muscular dystrophy, Spinal rigidity, Weakness of facial musculature, Scoliosis, High palate, Gene... ORPHA:324604
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Chromosome 9P Deletion Syndrome
Clinodactyly of the 5th toe, Sandal gap, Long philtrum, Long toe, Narrow palate, Perimembranous v... OMIM:158170
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Hepatomegaly, Polyhydramnios, Limb undergrowth, Splenomegaly, Abnormal limb bone... ORPHA:2204
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Arteriovenous malformation, Abnormal aortic arch morphology, Narrow mouth, Ca... ORPHA:1110
8P23.1 Duplication Syndrome
Wide nose, Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum, Toe syn... ORPHA:251076
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Short philtrum, Sandal gap, Antevert... ORPHA:217340
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic... ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Scoliosis, Calf muscle hypertrophy, Cardiomyopathy, Triceps ... ORPHA:86812
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Short nose, Polyhydramnios, Anteverted nares, Deviation of finger ORPHA:1450
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613876
Weiss-Kruszka Syndrome
Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Exagge... OMIM:618619
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect OMIM:122850
Achondrogenesis Type 1B
Short nose, Hydrops fetalis, Polyhydramnios, Anteverted nares, Abnormal rib morphology, Micromeli... ORPHA:93298
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Short middle phalanx of the 4th finger, Hydrocele testis, Cleft palate, ... OMIM:616738
Weiss-Kruszka Syndrome
Short nose, Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger... ORPHA:502430
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate, Short foot, Short 5th finger, Clinodactyly, Macrodontia, Small hand OMIM:300577
Fetal Trimethadione Syndrome
Short nose, Transposition of the great arteries, Scoliosis, High palate, Tetralogy of Fallot, Atr... ORPHA:1913
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Anteverted nares, Cleft palate, Short neck, Thin upper... ORPHA:2015
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Long philtrum, Genu valgum, Widely spaced teeth, Scoliosis, Hyperlor... OMIM:619698
Congenital Disorder Of Glycosylation, Type Il
Short nose, Hydrops fetalis, Hepatomegaly, Ascites, Kyphosis, Fetal skin edema, Pericardial effus... OMIM:608776
Achondrogenesis Type 1A
Short nose, Hydrops fetalis, Polyhydramnios, Anteverted nares, Short foot, Micromelia, Thickened ... ORPHA:93299
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Depressed nasal bridge, Cryptorchidism ORPHA:1918
Catel-Manzke Syndrome
Low insertion of columella, Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Sh... OMIM:616145
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Everted lower lip vermilion, Pulmonic stenosis, Hand polydactyly, Patent ductus arte... OMIM:249670
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Metaphyseal cupping, Bowing of the l... ORPHA:85166
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Knee flexion contracture, Elbow flexion contracture, EMG: ... OMIM:619040
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Hyperlordosis, High palate, Narrow mouth, Facial diplegia, Scapu... ORPHA:169186
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... ORPHA:99095
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Cryptorc... OMIM:615355
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613874
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Widely spaced teeth, Clinodactyly of the 5th finger, Scoliosis, Thick u... OMIM:619717
Fetal Gaucher Disease
Hepatomegaly, Hydrops fetalis, Pancytopenia, Anteverted nares, High palate, Thrombocytopenia, Spl... ORPHA:85212
Mmep Syndrome
Orofacial cleft, Triphalangeal thumb, Cryptorchidism, Split foot, Ventricular septal defect, Medi... ORPHA:3434
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Scoliosis, Glossoptosis, Oral synechia, Radial deviation of the 2... ORPHA:1388
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Decreased fetal movement, Atrial septal defect, Ven... OMIM:253300
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hydrops fetalis, Hepatomegaly, Abnormal heart valve morphology, Scol... OMIM:230500
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Sacral dimple, Thick lower lip vermilion, Short philtrum, Scoliosis, Atrial septal defect, Ventri... OMIM:608227
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization... OMIM:619371
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup... OMIM:618506
Sotos Syndrome
Narrow palate, Decreased fetal movement, Advanced eruption of teeth, Muscular ventricular septal ... OMIM:117550
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Sacral dimple, Wide nose, Low insertion of columella, Scoliosis, High palate, Lower li... OMIM:619995
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ... ORPHA:1263
Tetralogy Of Fallot
Thin vermilion border, Clinodactyly of the 5th finger, Abnormal nasal morphology, Tetralogy of Fa... ORPHA:3303
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613694
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly... OMIM:115197
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal lower lip morphology, Vertebral segmentation defect, Ab... ORPHA:1166
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Cryptorc... OMIM:613156
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis... OMIM:265380
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Crypto... OMIM:618815
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, Esophageal atr... OMIM:619227
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Short philtrum, Recurrent viral upper respiratory tract infections, Everted... OMIM:616898
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Kyphosis, T lymphocytopenia,... OMIM:618223
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Solitary median maxillary central incisor, Dextrocardi... OMIM:619657
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis OMIM:619433
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Polyhydramnios, Narrow mouth, Ventricular septal defect, Anal atresi... ORPHA:3469
Verheij Syndrome
Short nose, Anteverted nares, Scoliosis, Truncus arteriosus, Hemivertebrae, Short neck, Thin uppe... OMIM:615583
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Kyphosis, Clinodactyly, Coxa valga, P... OMIM:301040
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Brachydactyly, Jejunal atresia, Toe syndactyly, Vent... ORPHA:391646
Ethanolaminosis
Cardiomegaly OMIM:227150
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Short philtrum, High palate, Broad nasal tip, Atrial septal d... OMIM:618354
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Wide nose, Narrow mouth, Anal a... ORPHA:261344
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Esophageal varix, Cardiomyopathy, Ascites, Hepatosplenomegaly, S... OMIM:232500
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Sp... ORPHA:2414
Achondrogenesis
Short nose, Polyhydramnios, Hydrops fetalis, Anteverted nares, Thickened nuchal skin fold, Microm... ORPHA:932
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Delayed puberty, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Short philt... OMIM:300967
Hydrops Fetalis
Polyhydramnios, Abnormality of the lymphatic system, Lymphedema, Pleural effusion, Ascites, Twin-... ORPHA:1041
Even-Plus Syndrome
Short nose, Patent foramen ovale, Bifid nasal tip, High palate, Anal atresia, Vertebral clefting,... OMIM:616854
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hepatomegaly, Hydrops fetalis, Anemia, Pericarditis, Splenomegaly, Abnormal hemog... ORPHA:163596
Feingold Syndrome 2
Intestinal atresia, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyl... OMIM:614326
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, As... OMIM:256550
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Clubbing of fingers, Hypoplastic pubic bone, Short ribs... ORPHA:1865
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Car... ORPHA:439
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly,... OMIM:619142
Adams-Oliver Syndrome 5
Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic stenosis, Syndactyly, ... OMIM:616028
Trisomy 13
High, narrow palate, Hydrops fetalis, Scoliosis, Postaxial hand polydactyly, Ectrodactyly, Kyphos... ORPHA:3378
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Abnormal heart mo... ORPHA:354
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Mosaic Trisomy 9
Rocker bottom foot, Intestinal malrotation, Oligohydramnios, Single umbilical artery, Hydrops fet... ORPHA:99776
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Narrow palate, High, narrow palate, Polyhydramnios, Type 1 muscle fiber predominance, Increased v... OMIM:612949
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Cataract 42
Cataract, Developmental cataract OMIM:115900
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hepatomegaly, Hydrops fetalis, Anemia, Ascites, Premature birth, Thrombocytopenia... ORPHA:2123
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Maternal Phenylketonuria
Long philtrum, Deviated nasal septum, Esophageal atresia, Anteverted nares, High palate, Coarctat... ORPHA:2209
Congenital Fibrinogen Deficiency
Clubbing of fingers, Hemorrhagic ovarian cyst, Gingival bleeding, Decreased testicular size, Sple... ORPHA:335
Scimitar Syndrome
Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena... ORPHA:185
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Cryptorchidism, Intestinal malrotation,... OMIM:615524
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall... OMIM:217085
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Premature birth, P... ORPHA:60041
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy OMIM:619048
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Coarctation of aorta, Tetr... ORPHA:261243
Roifman Syndrome
Biconvex vertebral bodies, Short metacarpal, Premature birth, Irregular femoral epiphysis, Spleno... OMIM:616651
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Mullegama-Klein-Martinez Syndrome
Polydactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Short philtrum, Sco... OMIM:301022
Hadziselimovic Syndrome
Thick lower lip vermilion, Anteverted nares, Ventricular hypertrophy, Pulmonary artery atresia, H... OMIM:612946
Noonan Syndrome 10
Patent ductus arteriosus, Scoliosis, High palate, Pleural effusion, Hypertrophic cardiomyopathy, ... OMIM:616564
Klippel-Trénaunay Syndrome
Hydrops fetalis, Abnormal tricuspid valve morphology, Hepatomegaly, Venous insufficiency, Periphe... ORPHA:90308
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Cleft upper lip, Cleft pala... OMIM:214300
Gombo Syndrome
Microphthalmia OMIM:233270
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Schneckenbecken Dysplasia
Short nose, Polyhydramnios, Snail-like ilia, Short ribs, Short long bone, Flat acetabular roof, B... OMIM:269250
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
King-Denborough Syndrome
Kyphoscoliosis, Minicore myopathy, Type 1 muscle fiber predominance, Breech presentation, Weaknes... OMIM:619542
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Scoliosis, Open bite, Mi... ORPHA:1248
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Stroke, Left ventricular hypertrophy OMIM:614022
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Polyhydramnios, Proximal placement of thum... OMIM:618624
Yuan-Harel-Lupski Syndrome
Long philtrum, Clinodactyly of the 5th finger, Sandal gap, Wide nose, Aortic root aneurysm, High ... OMIM:616652
Achondrogenesis, Type Ia
Abnormal hand bone ossification, Short ribs, Hypoplastic ischia, Hypoplasia of the radius, Hydrop... OMIM:200600
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Ventricular septal defect, Unde... OMIM:601355
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Meckel Syndrome, Type 7
Situs inversus totalis, Pancreatic cysts, Bile duct proliferation, Aortic valve stenosis, Hepatos... OMIM:267010
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Abnormal mitral valve morphology, ... ORPHA:1919
Apert Syndrome
Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Postaxial hand polydactyly, Choanal atresia,... OMIM:101200
Diabetes Insipidus, Neurohypophyseal
Short nose, Central diabetes insipidus, Wide nose, Long philtrum, Decreased circulating osteocalc... OMIM:125700
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly,... OMIM:306955
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Postaxial hand polydactyly, Abnormal nasal morphology, Ventricular septal defect, D... ORPHA:83473
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Stroke-like episode, Left ventricular hypertrophy, Diabetes mellitus, M... OMIM:540000
Immunodeficiency 42
Recurrent aphthous stomatitis, Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge ORPHA:1355
Intellectual Developmental Disorder, Autosomal Recessive 79
Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Broad nasal tip, Smoo... OMIM:620393
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short ribs, Short long bone, Flat acetabular roof, Microdontia, Ascites, Mesomelia, Syndactyly, S... OMIM:614091
Acromicric Dysplasia
Long philtrum, Short nose, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares... ORPHA:969
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Stroke, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aor... ORPHA:85451
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Glossoptosis, Broad femoral neck, Left ventricular hypertrophy, Long philtrum, Bu... OMIM:611209
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Narrow palate, Scoliosis, Oligodontia, Camptodactyly, Cryptorchidism, ... OMIM:235510
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613251
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology, Protruding tongue DECIPHER:52
Achondrogenesis, Type Ib
Polyhydramnios, Breech presentation, Hydrops fetalis, Short ribs, Hypoplastic ilia, Micromelia, E... OMIM:600972
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Cleft palate, Short distal p... ORPHA:2516
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Dehydration, Arthrogryposis multiplex congenita, Nephrogenic diabetes insip... OMIM:208085
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Polyhydramnios, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regi... OMIM:255320
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Dilated cardiomyopathy, Ventricu... ORPHA:2515
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Aganglionic megacolon, Interphalangeal thumb joint contracture, Bulbous nose, Promine... OMIM:613870
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertroph... OMIM:612561
Adams-Oliver Syndrome 4
Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the... OMIM:615297
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis, Hepatomegaly OMIM:614876
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Cardiomyopa... OMIM:102200
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Solitary median maxillary central incisor, Duodenal atresia, Patent foramen ... OMIM:301043
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Hydrops fetalis, Tracheoesophage... ORPHA:268249
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Wide nose, Interrupted aortic arch, Scoliosis, Depressed nas... ORPHA:1727
Cardiomyopathy, Dilated, 1S
Single umbilical artery, Perimembranous ventricular septal defect, Ebstein anomaly of the tricusp... OMIM:613426
Achondrogenesis, Type Ii
Short tubular bones of the hand, Hydrops fetalis, Polyhydramnios, Hypoplastic iliac wing, Short r... OMIM:200610
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Kyphosis, Cleft upper lip, Cleft pa... OMIM:153400
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot OMIM:187500
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Microcolon, Pulmonic stenosis, Intestinal malrotation, Single um... OMIM:600001
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
3C Syndrome
Kyphosis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve stenosis, Intestinal ... ORPHA:7
Bronchopulmonary Dysplasia
Premature birth, Right ventricular hypertrophy ORPHA:70589
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Hepatomegaly, Wide nose, High palate, Inappropriate antidiuretic... ORPHA:79330
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyopathy, Hypertrophic cardiomyo... OMIM:608751
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 4th metacarpal, Muscular ventricular septal defect, Split han... OMIM:618569
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Increased variability in muscle fiber diameter, Open mouth, Decreased fetal movem... OMIM:616816
Sialidosis Type 2
Hydrops fetalis, Hepatomegaly, Ascites, Kyphosis, Splenomegaly, Skeletal muscle atrophy, Flexion ... ORPHA:87876
Maxillonasal Dysplasia, Binder Type
Short nose, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger, D... OMIM:155050
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Short nose, Sandal gap, Ventricular hypertrophy, Tetralogy of Fa... OMIM:300887
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Oculoauriculofrontonasal Syndrome
Wide nose, Scoliosis, Bifid nasal tip, Narrow mouth, Cleft palate, Broad philtrum, Cleft lip, Ven... ORPHA:398156
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
German Syndrome
Orofacial cleft, Lymphedema, High palate, Everted lower lip vermilion, Cryptorchidism, Camptodact... ORPHA:2077
Woods Syndrome
Thin vermilion border, Low hanging columella, 3-4 finger cutaneous syndactyly, Ventricular septal... OMIM:615236
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Intellectual Developmental Disorder, Autosomal Dominant 47
Single umbilical artery, Scoliosis, Increased nuchal translucency, Widely-spaced incisors, Crypto... OMIM:617635
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Endocardial fibroelastosis OMIM:276822
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis invol... ORPHA:371428
Mucolipidosis Type Iii Alpha/Beta
Kyphoscoliosis, Gingival overgrowth, Diastasis recti, Flexion contracture, Right ventricular hype... ORPHA:423461
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Flexion contracture, Left ventricular hypertrophy OMIM:616733
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava... OMIM:613759
Codas Syndrome
Short nose, Midline defect of the nose, Abnormal form of the vertebral bodies, Delayed eruption o... ORPHA:1458
Alg12-Cdg
Proximal placement of thumb, Sandal gap, Intestinal malrotation, Premature birth, Edema, Muscular... ORPHA:79324
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Recurrent upper a... OMIM:620014
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Nephrogenic diabetes insipidus, Arthrogryposis multiplex congenita, Right ventricul... OMIM:613404
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Atrial septal defect, Genu valgum, Sandal gap, Aortic root aneurysm, Abnormal hea... ORPHA:230851
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scoliosis, Elbow flex... OMIM:619110
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Perimembranous ventricular septal defect, Hepatomegaly, Wide nose, Narrow mouth, Prot... OMIM:608779
Lymphatic Malformation 6
Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Scoliosis,... OMIM:616843
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of the thymus, Clinodactyly, Patent fora... OMIM:620186
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Proximal muscle weakness in upper limbs, Muscular edema, Hyperlordosis, Calf mus... ORPHA:268
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Down Syndrome
Sandal gap, Abnormal fetal nasal bone visualization, Clinodactyly, Aganglionic megacolon, Patent ... OMIM:190685
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Aplasia/Hypoplasia of the thum... ORPHA:3186
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Abnormal heart morphology, Long philtrum, Overlapping toe, Oligohydramn... OMIM:618494
Campomelia, Cumming Type
Hepatomegaly, Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Bowing of the long bone... ORPHA:1318
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Pulmo... OMIM:611376
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Abnorma... ORPHA:2701
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Polyhydramnios, Impaired lymp... OMIM:243150
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Absent cupid's bow, Ventricular hypertrophy, Choanal atresia, Celiac disease, Pulmoni... ORPHA:284169
Clark-Baraitser Syndrome
Short nose, Short philtrum, Sandal gap, Low hanging columella, Anteverted nares, Exaggerated cupi... OMIM:617752
Lowry-Maclean Syndrome
Delayed eruption of teeth, Abnormal heart morphology, Cleft palate, Diaphragmatic eventration, Co... OMIM:600252
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Cleft palate, Prominent nasal ... ORPHA:261190
Methimazole Embryofetopathy
Polyhydramnios, Esophageal atresia, Abnormal aortic morphology, Choanal atresia, Tracheoesophagea... ORPHA:1923
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Kyphosis, Proximal tapering of metacarpals, Splenomegaly, Anterior beaking of low... OMIM:253220
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Long philtrum, Beaking of vertebral bodies T12-L3, Hydrops fetalis,... ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Low hanging columella, Serrated incis... OMIM:272440
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Wide mouth, Proximal muscle weakness in lower limbs, Rectovestibular ... ORPHA:280633
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Advanced eruption of teeth, Sho... OMIM:619148
Tangier Disease
Hepatomegaly, Coronary artery atherosclerosis, Distal amyotrophy, Facial diplegia, Splenomegaly, ... OMIM:205400
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Meckel Syndrome, Type 8
Polydactyly, Short nose, Enlarged kidney, Depressed nasal ridge, Pericardial effusion, Cleft uppe... OMIM:613885
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Clubbin... ORPHA:244
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Hyperlordosis, Long philtrum, Butterfly vertebrae, Anteverted nar... OMIM:618870
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Posterolateral diaphragmatic hernia, Vascular dilatation, Breech presentation, S... OMIM:613177
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Broad thumb, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myopathy... OMIM:612541
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Anteverted nares, Patent... OMIM:619343
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:618228
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Asymme... OMIM:608758
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Anteriorly placed anus, Anteverted nares, Hyperlordosis, Everted lo... OMIM:619980
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Ververi-Brady Syndrome
Single umbilical artery, Transposition of the great arteries, Clinodactyly of the 5th finger, Wid... OMIM:617982
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Short nose, Generalized limb muscle atrophy, Anemia, Scoliosis, High palate, Kyp... ORPHA:2598
Trichomegaly
Cataract OMIM:190330
Li-Ghorbani-Weisz-Hubshman Syndrome
Clinodactyly of the 5th finger, Downturned corners of mouth, Prominent nasal bridge, Thick vermil... OMIM:618974
Stickler Syndrome Type 1
Long philtrum, Short nose, Abnormal vertebral epiphysis morphology, Cleft palate, Mitral valve pr... ORPHA:90653
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate, Hypoplastic left heart OMIM:236110
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormality of the vertebral column, Congenital muscular tortico... ORPHA:2345
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Broad alveolar ridges, High palate, Convex nasal ridge, Ventricul... OMIM:314320
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Scoliosis, Calcaneovalgus deformity, Left ventricular hypertrophy ORPHA:93952
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Long nose, Sandal gap, Dental crowding, Kyphosis, Intestinal mal... OMIM:617602
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion ORPHA:46
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Premature birth, Nonimmune hydrops fetalis, Decreased circulating cortisol level, Cardiom... OMIM:618838
Diabetic Embryopathy
Single umbilical artery, Transposition of the great arteries, Abnormal sacrum morphology, Vertebr... ORPHA:1926
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Low hanging columell... ORPHA:79329
Fetal Valproate Spectrum Disorder
Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou... ORPHA:1906
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Long philtrum, Perimembran... ORPHA:508498
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Hyd... ORPHA:584
Periventricular Nodular Heterotopia 7
Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Dental crowd... OMIM:617201
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Kyphoscoliosis, Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Short... ORPHA:466791
Teebi Hypertelorism Syndrome 1
Single umbilical artery, Short nose, Aortic root aneurysm, Dental crowding, Anteverted nares, Hyd... OMIM:145420
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Hypoplastic nasal tip, Wide mouth, Decreased fetal movement, Dys... OMIM:157800
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Ogden Syndrome
Left atrial enlargement, Everted upper lip vermilion, Enlarged kidney, Sandal gap, Bifid nasal ti... OMIM:300855
Acrocephalopolydactyly
Short nose, Short long bone, Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Brachyd... ORPHA:221054
8Q12 Microduplication Syndrome
Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal defect, Ventricular septa... ORPHA:228399
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Anteverted nares, Right aortic arch, Thick upper lip ver... OMIM:617616
Thomas Syndrome
Cleft upper lip, Cleft palate, Oligohydramnios, Hypoplastic left heart ORPHA:3316
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Butterfly vertebrae, Polyhydramnios, Hepatomegaly, Talipes equinovarus, Hypod... OMIM:301056
Blomstrand Lethal Chondrodysplasia
Long philtrum, Short nose, Hydrops fetalis, Rhizomelia, Polyhydramnios, Flared metaphysis, Metaph... ORPHA:50945
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Fetal pleural effusion, Fetal... OMIM:620244
Burn-Mckeown Syndrome
Hypomimic face, Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/steno... OMIM:608572
Microform Holoprosencephaly
Orofacial cleft, Short nose, Solitary median maxillary central incisor, Maternal diabetes, Short ... ORPHA:280200
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Broad thumb, Abnormal cardiac septu... ORPHA:251071
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Convex nasal ridge, Ventricular septal defect, Wide ... ORPHA:3369
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent fingertip pads, Microdontia, Broad thumb, Bifid uvula, Bicuspid aortic valve, Short dis... OMIM:612474
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Single umbilical artery, Polyhydramnios, Finger syndactyly, Aplasia of th... ORPHA:2256
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Smooth philtrum, Thin upper lip vermilion, Underdeveloped nasal... OMIM:611867
Frank-Ter Haar Syndrome
Kyphoscoliosis, Broad alveolar ridges, Kyphosis, Wide mouth, Mitral valve prolapse, Anteverted na... OMIM:249420
Alg9-Cdg
Enlarged kidney, Low insertion of columella, Hypoplasia of the ovary, Abnormal heart morphology, ... ORPHA:79328
Isolated Dandy-Walker Malformation
Encephalocele, Prominent occiput, Frontal bossing, Cleft palate, Platybasia ORPHA:217
Global Developmental Delay With Or Without Impaired Intellectual Development
Oligodontia, Bulbous nose, Patent ductus arteriosus, Atrial septal defect, Ventricular septal def... OMIM:618330
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t... OMIM:619356
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hypo... OMIM:616276
Pituitary Gigantism
Premature pubarche, Increased circulating prolactin concentration, Pituitary growth hormone cell ... ORPHA:99725
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Anemia, Reduced red cell pyruvate kinase level, Chronic hemolytic anemia, Reticu... ORPHA:766
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, ... OMIM:614262
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Noonan Syndrome 2
Abnormal coronary artery origin, Prominent fingertip pads, Cardiomyopathy, Pulmonic stenosis, Wid... OMIM:605275
Long-Olsen-Distelmaier Syndrome
Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardiomegaly, Dilated cardiomyopathy, V... OMIM:620609
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis, Broad thumb, Do... OMIM:612961
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Right ventricular hypertro... OMIM:178600
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hydrops fetalis, Anemia, Cholelithiasis, Pleural effusion,... ORPHA:846
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Scoliosis, Cleft upper lip, Foot oligodactyly, Short femur... OMIM:601357
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, High palate, Everted lower... OMIM:619736
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Widely spaced teeth, Patent foramen ovale, High palate, Camptodactyly, Bulbous nose, ... ORPHA:369891
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Partial anosmia, Anomalous origin of left coronary artery from the pulmonary art... ORPHA:2326
Nanophthalmos
Microphthalmia ORPHA:35612
Timothy Syndrome
Single umbilical artery, Patent foramen ovale, Ventricular septal defect, Microdontia, Hypothyroi... OMIM:601005
Diamond-Blackfan Anemia 7
Fetal distress, Polyhydramnios, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscula... OMIM:612562
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Short philtrum, Bowing o... ORPHA:93267
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:613873
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Sandal gap, Enlarged metaphyses, Dislocated radial head, Microdo... OMIM:245600
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Nanophthalmos 4
Microphthalmia OMIM:615972
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydac... OMIM:235750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Sandal gap, Dental crowding, Kyphosis, Long philtrum, Short philtrum, Scoliosis, Oligodontia, Pat... OMIM:617061
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Abnormality of neutrophils, Giant platelets, Upper limb underg... OMIM:169400
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Anemia, Abnormal macrophage morphol... ORPHA:292
Atelis Syndrome 1
Lumbar kyphosis, Anemia, High palate, Prominent nose, Hypothyroidism, Carious teeth, Leukopenia, ... OMIM:620184
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal vertebral morphology, Abnormality of the vertebral column, 2-3 toe syndac... OMIM:239800
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Broad thum... OMIM:312870
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right heart, Clinodactyl... OMIM:616894
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Vascular dilatation, Wide distal femoral metaphysis, Cardiomegaly, Delayed epiphyseal... OMIM:613320
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Prominent fingertip pads... OMIM:180849
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Gaucher Disease, Perinatal Lethal
Short nose, Everted upper lip vermilion, Polyhydramnios, Hepatomegaly, Anemia, Anteverted nares, ... OMIM:608013
Miller-Dieker Syndrome
Short nose, Polyhydramnios, Clinodactyly of the 5th finger, Anteverted nares, Abnormal upper lip ... ORPHA:531
Grange Syndrome
Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Char Syndrome
Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Mesoaxial foot polydactyly, Sym... ORPHA:46627
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Non-Distal Duplication 10Q
Short nose, Scoliosis, High palate, Everted lower lip vermilion, Convex nasal ridge, Cryptorchidi... ORPHA:1695
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Cholelithiasis, Prominent nose, Decreased fetal movement, Double outlet... OMIM:614886
Transaldolase Deficiency
Thin vermilion border, Hepatomegaly, Anemia, Short philtrum, Pancytopenia, Patent foramen ovale, ... OMIM:606003
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Single umbilical artery, Atrioventricular canal defect, Abnormal vertebr... ORPHA:210122
Viss Syndrome
Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Corona... OMIM:619472
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Sacral dimple, Short philtrum, Low hanging columella, Patent foramen ovale,... OMIM:615668
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Short nose, Sandal gap, Triangular mouth, Cleft soft palate, Anteverted nares, Gin... OMIM:618529
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, High palate, Cleft upper lip, Cleft palate, Short neck, Ven... OMIM:609654
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Increased intervertebral space, An... OMIM:618961
Distal Duplication 18Q
Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Choanal atresia, Thick... ORPHA:1716
Charge Syndrome
Delayed puberty, Anosmia, Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Dysplastic ... OMIM:214800
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Synaptic Congenital Myasthenic Syndromes
Triangular mouth, Type 2 muscle fiber atrophy, Scoliosis, High palate, Scapular winging, Facial p... ORPHA:98915
X-Linked Intellectual Disability, Nascimento Type
Wide mouth, Overlapping toe, Oligohydramnios, Neutropenia, Patent foramen ovale, Cryptorchidism, ... ORPHA:163956
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Coffin-Siris Syndrome 7
Single umbilical artery, Thick lower lip vermilion, Clinodactyly of the 5th finger, Polyhydramnio... OMIM:618027
Chung-Jansen Syndrome
Thin vermilion border, Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nar... OMIM:617991
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Broad thumb, Pulmonic stenosis, Overlapping toe, Sacral dimple, Shor... ORPHA:435638
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Lethal Osteosclerotic Bone Dysplasia
Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Median cleft palate, De... ORPHA:1832
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Hepatomegaly, Esophageal varix, Ascites, Nonimmune hydrops fetalis, Hepatosplenom... ORPHA:367
Chondrodysplasia With Joint Dislocations, Gpapp Type
Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhik... OMIM:614078
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Coarctation of aorta, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia, Ventricu... OMIM:620210
Bardet-Biedl Syndrome 19
Hyposmia, Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Hyp... OMIM:615996
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Cryptorchidism, Hypothyroidism, Patent ductus arterios... OMIM:619189
17P13.3 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Wide nose, Narrow mouth, High palate, Congenital hip ... ORPHA:217385
Impaired Intellectua