Gene Summary

Name:
ceramide transporter 1
Synonyms:
GPBP,  Col4a3bp,  ceramide transport protein,  2810404O15Rik,  9230101K08Rik,  Cert

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
decreased mean corpuscular hemoglobin Cert1tm1a(KOMP)Wtsi HET Early adult 4.32×10-06
preweaning lethality, incomplete penetrance Cert1tm1a(KOMP)Wtsi HOM   Early adult 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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 89 images

Human diseases caused by Cert1 mutations

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

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

The table below shows human diseases associated to Cert1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 34
2-3 toe syndactyly, Short foot, Anteverted nares, Hearing impairment, Oligohydramnios OMIM:616351

The table below shows human diseases predicted to be associated to Cert1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Pectus excavatum, Spondylolisthesis, Prominent stern... OMIM:617877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Joint stiffness, Micrognathia, Short neck, Ventricular septal def... ORPHA:2516
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Pectus excavatum, Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Short neck, Hypop... OMIM:609945
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... OMIM:618845
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Sandestig-Stefanova Syndrome
Angulated antihelix, Convex nasal ridge, Muscular ventricular septal defect, Prominent metopic ri... OMIM:618804
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Pulmonary artery atresi... ORPHA:401935
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... OMIM:220210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Bulbous nose, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... OMIM:612474
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Growth delay, Pectus excavatum, Atrial septal defect, Joint contra... OMIM:179613
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Unilat... OMIM:613686
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Ventricular septal de... ORPHA:508498
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Accelerated skele... ORPHA:1354
Emanuel Syndrome
Kyphosis, Atrial septal defect, Aortic valve stenosis, Low hanging columella, Congenital diaphrag... OMIM:609029
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Depressed nasal bridge, Cut... OMIM:618316
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Ventricular septal defect, Hydranencephaly, Underdeveloped nasal ... OMIM:601355
Placental Insufficiency
Preeclampsia, Proportionate short stature, Small placenta, Eclampsia, Abnormal umbilical cord blo... ORPHA:439167
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Abnormality of the ankles, Ventricular s... ORPHA:96170
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Charge Syndrome
Aplasia of the semicircular canal, Hemivertebrae, Down-sloping shoulders, Ventricular septal defe... OMIM:214800
Laurin-Sandrow Syndrome
Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal metacarpal morpholo... ORPHA:2378
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex IV, Hypertrophic card... OMIM:618378
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Ventricular septal defect, H... OMIM:228940
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Micrognathia, Short thumb, Ventricular septal defect, Truncus a... OMIM:617516
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cardiospondylocarpofacial Syndrome
Bulbous nose, Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defec... OMIM:157800
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ulnar deviation of finger, Ventricular septal defect, Sandal gap, Bowing of th... ORPHA:261330
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Thickened nucha... OMIM:618164
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed skeletal maturation, Severe intrauterine growth retardation, Congenital sensorineural hea... ORPHA:73272
Phaver Syndrome
Overfolded helix, Depressed nasal bridge, Radioulnar synostosis, Ventricular septal defect, Ulnar... ORPHA:2876
Occipital Horn Syndrome
Pectus excavatum, Osteopenia, Down-sloping shoulders, Platyspondyly, Abnormality of the pubic bon... ORPHA:198
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short long bone, Short ri... OMIM:613091
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Horizontal sacrum,... OMIM:215140
Chromosome 9P Deletion Syndrome
Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Heart murmur, Ve... OMIM:158170
Tibial Hemimelia
Hemivertebrae, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Verheij Syndrome
Abnormal cardiac septum morphology, Short stature, Hemivertebrae, Vertebral fusion, Short neck, S... OMIM:615583
Mosaic Trisomy 16
Single coronary artery origin, Ventricular septal defect, Intrauterine growth retardation, Single... ORPHA:1708
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Short neck, Neonatal death, Camptodactyly, Patent ductus arteriosus, Low-set... OMIM:608104
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Micrognathia, Dextrocardia, Prominent nose, Macrotia, Supernumerar... OMIM:221950
Sotos Syndrome
Accelerated skeletal maturation, Muscular ventricular septal defect, Otitis media, Broad nasal ti... OMIM:117550
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Butterfly vertebrae, Pectus excavatum, Muscular ventricular septal defect, Shor... OMIM:619227
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Underdeveloped nasal alae, Truncus arteriosus, Short stature OMIM:611867
Femoral-Facial Syndrome
Abnormal pinna morphology, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventric... OMIM:134780
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Low-set ears, Talipes equinovarus, Short stature, Bilateral talipes equinovarus, Depressed nasal ... OMIM:119800
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... OMIM:156530
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Pterygium, Osteolysi... ORPHA:371428
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Joint dislocation, Finger syndactyly, Split foot, Camptoda... ORPHA:2008
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... ORPHA:3268
Aarskog-Scott Syndrome
Pectus excavatum, Short neck, Megalocornea, Umbilical hernia, Clinodactyly of the 5th finger, Gen... ORPHA:915
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Depressed nasal bridge, Hemivertebrae, Tapered finger, Ventricular septal defect, Short nose, Umb... OMIM:301040
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... OMIM:618782
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Short ... OMIM:600987
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Depress... OMIM:312150
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Kbg Syndrome
Short stature, Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Bilateral conductiv... ORPHA:2332
Double Outlet Right Ventricle
Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... ORPHA:3426
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Atrial septal defect, Low hanging columella, Muscular ventricular septal defect,... ORPHA:363444
Neu-Laxova Syndrome 1
Short neck, Micromelia, Small placenta, Ventricular septal defect, Cataract, Rocker bottom foot, ... OMIM:256520
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Lateral Meningocele Syndrome
Pectus excavatum, Short neck, Biconcave vertebral bodies, Short nasal bridge, Umbilical hernia, A... OMIM:130720
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Depress... OMIM:253290
Restrictive Dermopathy
Multiple joint contractures, Osteopenia, Structural foot deformity, Thoracic kyphoscoliosis, Smal... ORPHA:1662
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Short stature, Camptodactyly of finger, Sco... ORPHA:1937
Distal Monosomy 10Q
Facial diplegia, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Tapered finger, Mo... ORPHA:96148
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Talipes equinovalgus, Ventricular septal defect, Rocker bottom foot, Intrauteri... OMIM:301056
Genitopalatocardiac Syndrome
Double outlet right ventricle, Micrognathia, Ventricular septal defect, Transposition of the grea... OMIM:231060
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Protruding ear, 2-3 toe syndactyly, Atrial septal defect, Pulmonic... ORPHA:3304
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Depressed nasal bridge, Short neck, Platyspondyly... ORPHA:485
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Depresse... ORPHA:96334
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Pulmonic stenosis, Single v... OMIM:601186
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Kyphosis, Sprengel anomaly, Atrial septal defect, Short stature, P... OMIM:618223
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Ventricular ... ORPHA:93267
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Syndactyly, Brachydactyly, Ventricular septal defect, Portal hypertensio... OMIM:616589
Frank-Ter Haar Syndrome
Pectus excavatum, Depressed nasal bridge, Broad nasal tip, Osteopenia, Megalocornea, Ventricular ... OMIM:249420
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Rubinstein-Taybi Syndrome 1
Pectus excavatum, Prominent fingertip pads, Ventricular septal defect, Broad hallux, Cataract, De... OMIM:180849
Desbuquois Syndrome
Accelerated skeletal maturation, Depressed nasal bridge, Aplasia/Hypoplasia of the abdominal wall... ORPHA:1425
Alg12-Cdg
Abnormal pinna morphology, Muscular ventricular septal defect, Sandal gap, Intrauterine growth re... ORPHA:79324
Metatropic Dysplasia
Narrow chest, Joint stiffness, Kyphosis, Halberd-shaped pelvis, Severe short stature, Clinodactyl... ORPHA:2635
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Severe short stature, Back pain, Short... OMIM:277300
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Polydactyly, Short 5th fi... ORPHA:397590
Fetal Akinesia Deformation Sequence 1
Elbow ankylosis, Depressed nasal tip, Short neck, Small placenta, Rocker bottom foot, Intrauterin... OMIM:208150
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, Short neck, 11 pairs of ribs, Rhizomelia,... OMIM:108720
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal pinna morphology, Ventricular septal defect, Sandal gap, Abnormal heart morphology, Doub... ORPHA:477817
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Talipes equinovarus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Femor... OMIM:615415
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus cari... ORPHA:93315
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Bicuspid aortic valve, Anomalous p... ORPHA:1120
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, Ventricular septal defect, ... ORPHA:254534
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... OMIM:607143
Ogden Syndrome
Pectus excavatum, Depressed nasal bridge, Depressed nasal tip, Congenital hip dislocation, Short ... OMIM:300855
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Pectus excavatum, Accelerated skeletal maturation, Finger joint hypermobility, Depressed nasal br... OMIM:618870
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Short palm, Increased bone mineral density, Abnormal vertebral se... ORPHA:90650
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... OMIM:609052
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... OMIM:119100
Carpenter Syndrome 1
Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasa... OMIM:201000
Koolen-De Vries Syndrome
Bulbous nose, Pectus excavatum, Slender finger, Prominent fingertip pads, Overfolded helix, Ventr... OMIM:610443
Omodysplasia 1
Depressed nasal bridge, Short neck, Ventricular septal defect, Rhizomelia, Short nose, Umbilical ... OMIM:258315
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hyp... ORPHA:263297
22Q11.2 Deletion Syndrome
Tricuspid atresia, Bulbous nose, Overfolded helix, Short neck, Ventricular septal defect, Catarac... ORPHA:567
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Conductive hearing impairment, Abnormal pinna ... OMIM:214300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Short stature, Craniosy... OMIM:178110
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Patellar dislocation, Clinoda... ORPHA:3320
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal pinna morphology, Depressed nasal bridge, Short nose... ORPHA:90652
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Depressed nasal bridge, Short neck, Umbilical hernia, Intraute... ORPHA:2311
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Sh... ORPHA:1488
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Systolic heart murmur, Tetralogy of Fal... OMIM:617478
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... ORPHA:254528
Halperin-Birk Syndrome
Talipes equinovarus, Congenital diaphragmatic hernia, Flexion contracture, Micrognathia, Developm... OMIM:618651
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... ORPHA:79345
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Catel-Manzke Syndrome
Abnormal pinna morphology, Pectus excavatum, Joint dislocation, Clinodactyly of the 5th finger, T... OMIM:616145
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... OMIM:115197
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Diastrophic Dysplasia
Abnormal clavicle morphology, Overfolded helix, Depressed nasal bridge, Micromelia, Symphalangism... ORPHA:628
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... ORPHA:66637
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Spondylocostal Dysostosis 5
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Posterior rib fu... OMIM:122600
Myhre Syndrome
Cone-shaped epiphysis, Short neck, Birth length less than 3rd percentile, Platyspondyly, Ventricu... OMIM:139210
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... ORPHA:261243
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... OMIM:118651
Femoral-Facial Syndrome
Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Vertebral segmentation defec... ORPHA:1988
Short Rib-Polydactyly Syndrome
Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine... ORPHA:1505
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Charge Syndrome
Abnormal cardiac septum morphology, Overfolded helix, Depressed nasal bridge, Hemivertebrae, Abno... ORPHA:138
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Small hand, Scoliosis, Syndactyly, Abnormal thorax morph... ORPHA:1445
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Short neck, Scoliosis, Abnormal sacrum morph... ORPHA:1797
Achondrogenesis Type 1B
Narrow chest, Severe short stature, Talipes equinovarus, Thickened nuchal skin fold, Micrognathia... ORPHA:93298
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Short neck, Hammertoe, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosi... OMIM:618000
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Short nose, Contracture o... OMIM:601559
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Short clavicles, Atrial septal defect, Short stature, Cupped ear, Coarctation of ao... OMIM:617159
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Adducted thumb, Short stature, Brachydactyly, Low-set ears OMIM:620062
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Radioulnar synostosis, Elbow dislocation, Anterior vertebral fusion, Microtia, Short humerus, Sho... OMIM:171480
Wrinkly Skin Syndrome
Pectus excavatum, Muscular ventricular septal defect, Osteopenia, Congenital hip dislocation, Umb... OMIM:278250
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Apert Syndrome
Vertebral segmentation defect, Sensorineural hearing impairment, Conductive hearing impairment, C... ORPHA:87
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... ORPHA:959
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Protruding ear, Congenital diaphragmatic hernia, ... ORPHA:1166
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Basal Cell Nevus Syndrome
Hemivertebrae, Down-sloping shoulders, Cataract, Vertebral wedging, Plantar pits, Sprengel anomal... OMIM:109400
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Catara... OMIM:607323
Fibrochondrogenesis 1
Abnormal pinna morphology, Depressed nasal bridge, Short neck, Platyspondyly, Megalocornea, Rhizo... OMIM:228520
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Bulbous nose, Flexion contracture, Short statur... OMIM:616549
Alagille Syndrome
Telangiectasia of the skin, Long nose, Ventricular septal defect, Hypoplasia of the ulna, Keratoc... ORPHA:52
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Short nose, Intrauterine growth... OMIM:616897
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Tapered finger, Sh... ORPHA:251071
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Brushfield spots, Double ou... OMIM:190685
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... ORPHA:168549
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Delayed skeletal maturation, Sensorineural hearing impairment, Sho... ORPHA:2326
Diabetic Embryopathy
Vertebral segmentation defect, Microtia, Micrognathia, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Disproportionate short-limb short stature, Hypoplastic left heart, Decreased... ORPHA:2772
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Frontonasal Dysplasia 1
Conductive hearing impairment, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bif... OMIM:136760
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Short nose, Sacral dimple, Sprenge... OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Hemiverte... OMIM:268310
Fetal Trimethadione Syndrome
Atrial septal defect, Abnormal helix morphology, Overfolded helix, Depressed nasal bridge, Microg... ORPHA:1913
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Block verte... OMIM:306955
Microphthalmia, Syndromic 3
Sensorineural hearing impairment, Rib fusion, Butterfly vertebrae, Supernumerary ribs, Bilateral ... OMIM:206900
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... OMIM:606842
Noonan Syndrome
Abnormal pulmonary valve morphology, Thickened helices, Enlarged thorax, Pectus excavatum, Aplasi... ORPHA:648
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Disproportio... OMIM:253010
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... ORPHA:240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Koolen-De Vries Syndrome
Vertebral segmentation defect, Abnormal cardiac septum morphology, Bulbous nose, Bicuspid aortic ... ORPHA:96169
8Q24.3 Microdeletion Syndrome
Pectus excavatum, Atrioventricular canal defect, Broad nasal tip, Congenital hip dislocation, Sho... ORPHA:508488
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Short stature, Hemivertebra... OMIM:608406
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Short neck, Pectus carinatum, Disproportionate short-trunk short stature, Short ... OMIM:272460
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Microtia, Depressed nasal bridge, ... ORPHA:254519
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Broad nasal tip, Microcornea, R... OMIM:300166
Gorlin Syndrome
Abnormality of the sense of smell, Hemivertebrae, Vertebral fusion, Arachnodactyly, Scoliosis, Br... ORPHA:377
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Genu valgum, Partial fusio... OMIM:305620
Cantú Syndrome
Accelerated skeletal maturation, Short neck, Platyspondyly, Broad ribs, Ovoid vertebral bodies, U... ORPHA:1517
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Microtia, Small hand, Le... OMIM:611209
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Ventricular septal defect, Double outlet right ventricle, Peripheral pulm... ORPHA:163956
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Disproportionate short-... ORPHA:174
Robinow Syndrome
Tricuspid atresia, Broad nasal tip, Depressed nasal bridge, Hemivertebrae, Ventricular septal def... ORPHA:97360
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Contractural Arachnodactyly, Congenital
Osteopenia, Short neck, Crumpled ear, Pectus carinatum, Ulnar deviation of finger, Ventricular se... OMIM:121050
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect, Tapered finger, Short 3rd meta... OMIM:618569
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Lateral clavicle hook, Undulate ribs, Micrognathia, Anterior rib c... ORPHA:1801
Microcephaly-Micromelia Syndrome
Narrow chest, Forearm undergrowth, Convex nasal ridge, Talipes equinovarus, Craniosynostosis, Mic... OMIM:251230
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Thickened nuchal... ORPHA:93299
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Brachydactyly, Coarctation o... ORPHA:2209
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Pectus carinatum, Upper limb undergrowth, Hypoplastic pelvis, Genu val... ORPHA:93351
Feingold Syndrome Type 1
Tricuspid atresia, Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly ... ORPHA:391641
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... OMIM:263540
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Short stature, Broad nasal tip, Long nose, Depressed nasal bridge, Dextro... OMIM:619995
Restrictive Dermopathy 1
Depressed nasal bridge, Decreased calvarial ossification, Ankylosis, Spontaneous chorioamniotic s... OMIM:275210
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Mucopolysaccharidosis Type 4
Short neck, Platyspondyly, Pectus carinatum, Genu valgum, Abnormal epiphysis morphology, Bowing o... ORPHA:582
Barth Syndrome
Tricuspid regurgitation, Arrhythmia, Abnormal mitochondrial morphology, Increased left ventricula... OMIM:302060
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... ORPHA:99094
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Kniest Dysplasia
Enlarged joints, Pectus excavatum, Depressed nasal bridge, Short neck, Platyspondyly, Disproporti... OMIM:156550
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Slc35A2-Cdg
Sensorineural hearing impairment, Talipes equinovarus, Coxa valga, Short stature, Thickened nucha... ORPHA:356961
Roifman Syndrome
Irregular vertebral endplates, Hip contracture, Recurrent otitis media, Clinodactyly of the 5th f... OMIM:616651
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Ventricular septal defect, Iridodonesis, Broad ribs, Cataract, Umbilical ... OMIM:608328
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Short stature, Patent ductus arteriosus, Pro... OMIM:614886
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypert... OMIM:607155
Trisomy 13
Narrow chest, Kyphosis, Abnormal antihelix morphology, Sensorineural hearing impairment, Atrial s... ORPHA:3378
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fi... ORPHA:2916
Schneckenbecken Dysplasia
Short neck, Nonimmune hydrops fetalis, Platyspondyly, Short nose, Ovoid vertebral bodies, Umbilic... OMIM:269250
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Accelerated skeletal maturation, Depressed nasal ridge, Abnor... ORPHA:175
Kniest-Like Dysplasia, Lethal
Abnormal pinna morphology, Short neck, Platyspondyly, Rhizomelia, Broad ribs, Dumbbell-shaped lon... OMIM:245190
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Short neck, Down-sloping shoulders, ... OMIM:265000
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent otitis media OMIM:618254
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Osteogenesis Imperfecta
Abnormality of femur morphology, Pectus excavatum, Osteopenia, Femoral bowing, Biconcave vertebra... ORPHA:666
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
3C Syndrome
Abnormal mitral valve morphology, Atrioventricular canal defect, Depressed nasal bridge, Hemivert... ORPHA:7
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Butterfly vertebrae, Hypoplastic left heart, Vertebral clefting, M... OMIM:301043
Ververi-Brady Syndrome
Metaphyseal irregularity, Bulbous nose, Clinodactyly of the 5th finger, Short stature, Broad nasa... OMIM:617982
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Gillespie Syndrome
Hypoplasia of the iris, Aniridia, Truncus arteriosus OMIM:206700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Convex nasal ridge, Abnormal clavicle morphology, Short stature, Abno... ORPHA:2522
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Uni... OMIM:173800
Primary Ciliary Dyskinesia
Double outlet right ventricle, Conductive hearing impairment, Anomalous pulmonary venous return, ... ORPHA:244
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Cone-shape... OMIM:300232
Codas Syndrome
Delayed skeletal maturation, Sensorineural hearing impairment, Coronal cleft vertebrae, Short met... ORPHA:1458
Multiple Epiphyseal Dysplasia With Robin Phenotype
Pectus excavatum, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Rhizomelia, Genu ... OMIM:601560
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Atrial septal defect, Abnormality of the humeru... ORPHA:2538
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Clavicular sclerosis, Abnormal form of the vertebral bodies, Ab... ORPHA:2790
Dilated Cardiomyopathy With Ataxia
Bilateral sensorineural hearing impairment, Muscular ventricular septal defect, Diaphragmatic eve... ORPHA:66634
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Duane Retraction Syndrome
Hypoplasia of the radius, Short neck, Microcornea, Skeletal muscle atrophy, Hypoplastic iris stro... ORPHA:233
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Atrial septal defect, Flexion contracture, Thin ribs, Pulmonic s... OMIM:608149
Diamond-Blackfan Anemia 7
Sprengel anomaly, Secundum atrial septal defect, Osteopenia, Scoliosis, Osteoporosis, Tetralogy o... OMIM:612562
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Sensorineural hearing impairment, Conductive h... OMIM:118100
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Alkaptonuria
Kyphosis, Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcificatio... OMIM:203500
3M Syndrome
Bulbous nose, Short neck, Congenital hip dislocation, Micromelia, Hypoplasia of the ulna, Hypopla... ORPHA:2616
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Abnormality of the ankles, Pectus carinatum, Dispr... ORPHA:239
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary arte... OMIM:612946
Chromosome 6Pter-P24 Deletion Syndrome
Pectus excavatum, Depressed nasal bridge, Short neck, Ventricular septal defect, Umbilical hernia... OMIM:612582
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Slender finger, Muscular ventricular septal defect, Depressed nasal bridge, Tapered finger, Ventr... OMIM:619503
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislocation,... ORPHA:1106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal i... ORPHA:83617
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Low-set, posteriorly rota... ORPHA:2475
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Abnormal helix morphology, Accelerated skeletal maturation, Aplasia/Hypoplasia ... ORPHA:373
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:1836
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Kapur-Toriello Syndrome
Conductive hearing impairment, Bulbous nose, Atrial septal defect, Joint contracture of the hand,... OMIM:244300
Larsen Syndrome
Pectus excavatum, Depressed nasal bridge, Talipes equinovalgus, Pectus carinatum, Ventricular sep... OMIM:150250
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, R... OMIM:619636
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Mitral regurgitation, Scoliosis, T... ORPHA:313892
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Iris coloboma, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusi... OMIM:613702
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Short ... OMIM:200600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Noonan Syndrome 12
Spinal canal stenosis, Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septa... OMIM:618624
Lethal Congenital Contracture Syndrome 10
Torticollis, Narrow chest, Thoracic scoliosis, Talipes equinovarus, Overriding aorta, Adducted th... OMIM:617022
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect OMIM:601348
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Depressed nasal bridge, Decreased calvarial ossification, Short neck, ... OMIM:617925
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Mucopolysaccharidosis, Type Vi
Prominent sternum, Depressed nasal bridge, Pectus carinatum, Disproportionate short-trunk short s... OMIM:253200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... OMIM:300863
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Dilated vestibule of the ... OMIM:611584
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Atrial septal defect, Talipes equinovarus, Conge... ORPHA:2970
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
3Q29 Microdeletion Syndrome
Pectus excavatum, Clinodactyly of the 5th finger, Pectus carinatum, Tapered finger, Six lumbar ve... ORPHA:65286
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Micrognathia, Scoliosis, Tetralogy of Fallot, Vent... ORPHA:1727
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Pectus excavatum, Short stature, Cup... ORPHA:52055
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi... ORPHA:958
Mosaic Trisomy 20
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... ORPHA:1724
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Atrial septal defect, Absent thumb, Short stature, Hypoplasia of t... OMIM:609053
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx... OMIM:309620
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Trichohepatoenteric Syndrome 1
Depressed nasal ridge, Short stature, Pulmonic stenosis, Microtia, Avascular necrosis of the capi... OMIM:222470
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodactyly... OMIM:619910
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... OMIM:618469
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Short stature, Stenosis of the external auditory canal, Depressed ... ORPHA:1513
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Lens subluxation, Short neck, Fused cervical vertebr... ORPHA:3456
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Atrial septal defect, Flexion contracture, Cupped ear, Tachycardia, Tapered finger,... OMIM:613870
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... OMIM:151200
Viss Syndrome
Tortuous cerebral arteries, Pectus excavatum, Depressed nasal bridge, Aortic tortuosity, Pulmonar... OMIM:619472
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Radioulnar synostosis, Ventricular septal defect, Delayed skeletal mat... OMIM:194190
Digeorge Syndrome
Abnormality of the middle ear, Short stature, Intervertebral disc degeneration, Micrognathia, Sco... OMIM:188400
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Disproportionate short-limb short stature, Broad long bones, Convex nasal ri... OMIM:166210
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Short neck, Anencephaly, Bowing of the long bones, Intrauteri... OMIM:249000
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... OMIM:142900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Kyphosis, Conductive hearing impairment, Clinodactyly of the 5th f... ORPHA:3082
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short stature, Micrognathia, Short tibia, 11 pairs of ribs,... OMIM:201170
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Scoliosis, Radioulnar syno... ORPHA:2319
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Stapes ankylosis, Conductive hearing impairment, Congenital stape... OMIM:184460
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Mosaic Trisomy 14
Narrow chest, Microtia, Micrognathia, Camptodactyly of finger, Short neck, Low-set, posteriorly r... ORPHA:1703
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Ventricular septal defect, Broad ribs, Cataract, Proportionate short stat... OMIM:277600
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Overfolded helix, Hemivertebrae, Arachnodactyly, Joint hyperflexi... ORPHA:2759
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis,... OMIM:143095
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Scoliosis, Brachydactyly, Fused cervical vertebrae, Short middle phalanx of finger... ORPHA:1436
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Platyspondyly... ORPHA:1427
Frontometaphyseal Dysplasia 2
Abnormal pinna morphology, Pectus excavatum, Broad nasal tip, Depressed nasal bridge, Congenital ... OMIM:617137
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Te... OMIM:617992
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Bulbous nose, Congenital diaphragmatic hernia, Hemivertebrae, Sh... ORPHA:1780
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Bulbous nose, Depressed nasal bridge, Hemivertebrae, Scoliosis, Abnormal form o... ORPHA:2180
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Decreased mitochondrial number ORPHA:352447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal pinna morphology, Femoral bowing, Short neck, Platyspondyly, 11 pairs of ribs, Long foot... OMIM:210710
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Limb Body Wall Complex
Lens subluxation, Depressed nasal bridge, Aplasia of the proximal phalanges of the hand, Anenceph... ORPHA:2369
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morpholog... ORPHA:3027
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, 2-3 finger syndactyly, Tapered finger, Ventricular septal defect, Broad h... ORPHA:435638
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Atrial septal defect, Lateral clavicle hook, Tricuspid regurgitation, Short ribs, P... OMIM:263520
Kbg Syndrome
Rib fusion, Protruding ear, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Sh... OMIM:148050
Melnick-Needles Syndrome
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Cone-shaped epiphyses of the p... ORPHA:2484
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... OMIM:135100
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Asymmetric Short Stature Syndrome
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short st... OMIM:108450
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Bulbous nose, Talipes equinovarus, Macroglossia, Depressed nasal bridge, Short neck, Coloboma, Tr... OMIM:616789
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Amniotic constriction ring, Short stature, Abnormal hip bone morphology, Mic... ORPHA:1486
Orofaciodigital Syndrome Xvii
Short stature, Partial duplication of thumb phalanx, Prominent metopic ridge, Short neck, Short m... OMIM:617926
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aorti... OMIM:619698
Mucopolysaccharidosis Type 6
Joint stiffness, Kyphosis, Epiphyseal dysplasia, Macroglossia, Recurrent upper respiratory tract ... ORPHA:583
Grange Syndrome
Syndactyly, Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus art... ORPHA:79094
Craniofaciofrontodigital Syndrome
Stroke, Finger joint hypermobility, Anomalous branches of internal carotid artery, Depressed nasa... ORPHA:363705
Tibial Hemimelia
Absent tibia OMIM:275220
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Sensorineural hearing impairment, Pectus excavatum, Severe sho... ORPHA:3242
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... OMIM:609813
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Mosaic Trisomy 9
Bulbous nose, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricular septal defe... ORPHA:99776
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defect, Micro... ORPHA:40366
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology, Coarctation of aorta, Ethmoidal encephalo... ORPHA:280195
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:612447
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micrognathia, Anencephaly, Low... ORPHA:1908
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Short stature, Tetralogy of Fallot, Short nose, Sandal gap, Ventricular hyp... OMIM:300887
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Depress... ORPHA:2756
Giant Cell Arteritis
Joint stiffness, Conductive hearing impairment, Double outlet right ventricle with subpulmonary v... ORPHA:397
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Protruding ear, Clinodactyly of the 5th finger, Arachnodactyly, Te... OMIM:602249
De Barsy Syndrome
Pectus excavatum, Osteopenia, Congenital hip dislocation, Ventricular septal defect, Cataract, Um... ORPHA:2962
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Low-set ears, Sensorineural hearing impairment, Lumbar hyperlord... OMIM:617796
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, Platyspondyly, 11 pairs of ribs, Ve... OMIM:271640
Cenani-Lenz Syndrome
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Hypoplasia of the ulna, Short nose, ... ORPHA:3258
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Chops Syndrome
Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, Short stature, Tracheomalacia... OMIM:616368
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, Short neck, Platyspon... OMIM:250220
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Pectus excavatum, Femoral bowing, Platyspondyly, Micromelia, Ovoid vertebral bodies, Small epiphy... OMIM:608728
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Symphalangism affecting t... ORPHA:2990
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Hypopl... OMIM:156810
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Depressed nasal bridge, Short neck, Pectus carinatum, Ventricular septal defect... ORPHA:1507
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Anterior polar cataract, Genu valgum, Irregular iliac crest, Short long bone, Meta... OMIM:250420
Recombinant 8 Syndrome
Low-set ears, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Clinodactyly o... ORPHA:96167
Sprengel Deformity
Sprengel anomaly, Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, S... OMIM:184400
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Wide nose, Hearing impairment,... ORPHA:251076
Hurler Syndrome
Angina pectoris, Abnormal clavicle morphology, Depressed nasal bridge, Short neck, Abnormal epiph... ORPHA:93473
Gm1-Gangliosidosis, Type I
Thickened ribs, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Severe short stature, Hyp... OMIM:230500
Mungan Syndrome
Pulmonic stenosis, Tricuspid regurgitation, Perimembranous ventricular septal defect OMIM:611376
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Broad h... OMIM:154400
Kapur-Toriello Syndrome
Bulbous nose, Retinal coloboma, Short neck, Tetralogy of Fallot, Ventricular septal defect, Atres... ORPHA:2328
Orofaciodigital Syndrome Viii
Short stature, Broad nasal tip, Short tibia, Syndactyly, Polydactyly, Bifid nasal tip OMIM:300484
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Leopard Syndrome 3
Sensorineural hearing impairment, Abnormal mitral valve morphology, Short stature, Depressed nasa... OMIM:613707
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Clinodactyly of the 5th finger, Abnormal rib cage morphology, Microtia, Down-sl... OMIM:227330
Doors Syndrome
Bulbous nose, Broad nasal tip, Hemivertebrae, Cutaneous syndactyly, 11 pairs of ribs, Sirenomelia... ORPHA:79500
Multiple Synostoses Syndrome 1
Pectus excavatum, Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Bilateral... OMIM:186500
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Timothy Syndrome
Depressed nasal bridge, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal... OMIM:601005
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Thin anteverted nares, Abnormal cardiac ventricle morphology, Aortic valve... ORPHA:2306
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Disproportionate short-limb short stature, Kyphosis, Pectus excavatum, Decre... OMIM:259440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Trisomy 1Q
Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Depressed nasal bridge, Campt... ORPHA:261344
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Short stature, Craniosynostosis, Microtia, Mic... ORPHA:2145
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Scoliosis, Amelia, Anterior encephalocele, Ventricular septal defect, Coloboma, Low-... OMIM:601357
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Short stature, Thin ribs, Micrognathia, Platyspondyly, Metaphyseal cupping... ORPHA:163966
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... OMIM:618395
C Syndrome
Micromelia, Ulnar deviation of finger, Ventricular septal defect, Short nose, Delayed skeletal ma... OMIM:211750
Apert Syndrome
Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Rhizomelic arm shortening, Pectus... OMIM:101200
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Scoliosis, Ovoid t... OMIM:252900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Hemivertebrae, Ventricular septal defect, Aphalangy of hand... OMIM:207620
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... ORPHA:2097
Elliptocytosis 3