Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cert1 MGI:1915268

Gene Summary

Name:

ceramide transporter 1

Synonyms:

GPBP, Col4a3bp, ceramide transport protein, 2810404O15Rik, 9230101K08Rik, Cert

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased mean corpuscular hemoglobin		Cert1^{tm1a(KOMP)Wtsi}	HET		Early adult	4.32×10^-06
preweaning lethality, incomplete penetrance		Cert1^{tm1a(KOMP)Wtsi}	HOM		Early adult	0.00

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.

Anti-nuclear antibody assay

Images

6 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images

X-ray

XRay Images Forepaw

14 Images

View images

X-ray

XRay Images Skull Lateral Orientation

14 Images

View images

DSS Histology

Images

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images

Eye Morphology

Images Slit Lamp

2 Images

View images

Eye Morphology

Images Ophthalmoscopy

3 Images

View images

Ear epidermis immunophenotyping

Images

12 Images

View images

Legacy Phenotype Associated Images

Col4a3bp^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

View all 89 images

Col4a3bp^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

Col4a3bp^{tm1a(KOMP)Wtsi}
corneal opacity, HET, Female, WTSI

Col4a3bp^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Col4a3bp^{tm1a(KOMP)Wtsi}
mydriasis, abnormal pupil morphology, HET, Female, WTSI

Col4a3bp^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

Col4a3bp^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

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.

Human diseases associated with Cert1 (1 diseases)
Human diseases predicted to be associated with Cert1 (742 diseases)

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		Hearing impairment, Anteverted nares, Oligohydramnios, 2-3 toe syndactyly, Short foot	OMIM:616351

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

Disease	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
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	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, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Verheij Syndrome	Wide nasal bridge, Short 5th finger, Broad nasal tip, Branchial cyst, Clinodactyly, Intrauterine ...	OMIM:615583
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
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, Arrhythmia, Short nose, Osteopenia, Short toe, Delayed skeletal maturation, Promine...	OMIM:617877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hoxha-Aliu Syndrome	Low-set ears, Abnormal vertebral morphology, Overlapping toe, Broad foot, Absent fifth metatarsal...	OMIM:620662
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Short distal phalanx of finger, Underdeveloped nasal alae, Intrauterine growth retardation, Joint...	ORPHA:2516
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Hearing impairment, Broad thumb, Hypoplastic iliac win...	OMIM:609945
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Limited elbow ...	ORPHA:401935
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Verte...	OMIM:618845
Sandestig-Stefanova Syndrome	Low-set ears, Wide nasal bridge, Clinodactyly, Muscular ventricular septal defect, Underdeveloped...	OMIM:618804
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Recombinant Chromosome 8 Syndrome	Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Hearing impairment, Tetralog...	OMIM:179613
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Depressed nasal bridge, Tetralogy of...	OMIM:220210
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co...	OMIM:609029
Heart Defects-Limb Shortening Syndrome	Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tri...	ORPHA:1354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricul...	ORPHA:508498
Snijders Blok-Campeau Syndrome	Low-set ears, Wide nasal bridge, Umbilical hernia, Abnormal foot morphology, Prominent nose, Asti...	OMIM:618205
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co...	ORPHA:96170
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Talipes, Aplasia/Hypoplasia of t...	ORPHA:2378
Charge Syndrome	Low-set ears, Postnatal growth retardation, Micrognathia, Ventricular septal defect, Sensorineura...	OMIM:214800
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital...	ORPHA:2345
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Hydranencephaly, Underdeveloped nasal alae, Ventricular septal de...	OMIM:601355
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Abnormal earlobe morphology, Ventricular septal defect, Sensorineural hearing imp...	ORPHA:261330
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe...	OMIM:618316
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Ventricular septal defect, Radioul...	ORPHA:2876
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Clinodactyly, Delayed skeletal maturation, Small pla...	ORPHA:73272
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Small placenta, Intra...	ORPHA:439167
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Mitral ...	OMIM:157800
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:620294
Stankiewicz-Isidor Syndrome	Low-set ears, Absent thumb, Hearing impairment, Short thumb, Prominent nose, Micrognathia, Ventri...	OMIM:617516
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s...	OMIM:613091
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, P...	ORPHA:198
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Ventricular s...	OMIM:134780
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Atrioventric...	OMIM:142900
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Chromosome 22Q11.2 Deletion Syndrome, Distal	Short stature, Intrauterine growth retardation, Underdeveloped nasal alae, Truncus arteriosus	OMIM:611867
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge...	ORPHA:93322
Chromosome 9P Deletion Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Pes planus, Atrial septal defe...	OMIM:158170
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Low-set ears, Depressed nasal bridge, Popliteal pterygium, Patellar hypoplasia, Preaxial foot pol...	OMIM:119800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:371428
Mosaic Trisomy 16	Short forearm, Hearing impairment, Abnormality of the nose, Clinodactyly, Abnormal heart morpholo...	ORPHA:1708
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Choanal atresia, Muscular ventricular septal defect, Butterfly vertebrae, Sprengel ...	OMIM:619227
Sotos Syndrome	Low-set ears, Long metacarpals, Genu valgum, Ventricular septal defect, Pes planus, Long phalanx ...	OMIM:117550
Acrocardiofacial Syndrome	Low-set ears, Wide nasal bridge, Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodact...	ORPHA:2008
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Intrauterine growth retardation, Oligohydramnios, Decreased fetal movement, Neonata...	OMIM:608104
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo...	OMIM:156530
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Premature birth, Delayed skeletal maturation, Finger syndactyly, Radioulnar syn...	ORPHA:3268
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Megalocornea, Broad foot, Talipes, Short neck, Pes planus, Short f...	ORPHA:915
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Short th...	OMIM:613686
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Low-set ears, Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hal...	OMIM:600987
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Depressed nasal ridge, Thin ribs, Joint dislocation, Short finger, Hypoplastic hear...	OMIM:312150
Neu-Laxova Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic...	OMIM:256520
Larsen Syndrome	Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Ventricular septal defect,...	OMIM:150250
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal...	ORPHA:392
7Q31 Microdeletion Syndrome	Low-set ears, Skeletal muscle atrophy, Clinodactyly of the 2nd finger, Delayed skeletal maturatio...	ORPHA:251061
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Kbg Syndrome	Bilateral conductive hearing impairment, Underdeveloped nasal alae, Cervical ribs, Delayed skelet...	ORPHA:2332
Double Outlet Right Ventricle	Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Heart murmur, Abnormality of...	ORPHA:3426
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Clinodactyly, Postnatal growth retardation, Ventricular septal defect, Sensorineura...	OMIM:301040
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Fetal Akinesia Deformation Sequence 1	Low-set ears, Thin ribs, Decreased muscle mass, Micrognathia, Hip contracture, Talipes equinovaru...	OMIM:208150
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture...	OMIM:178110
Laurin-Sandrow Syndrome	Underdeveloped nasal alae, Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognath...	OMIM:210710
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Depressed nasal ridge, Thin ribs, Joint dislocation, Short finger, Hypoplastic hear...	OMIM:253290
Restrictive Dermopathy	Low-set ears, Thin ribs, Structural foot deformity, Increased anterioposterior diameter of thorax...	ORPHA:1662
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
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
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Multiple muscular ventricular septal defects, Micrognathia, Polyhydramnios, De...	OMIM:620070
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Ventricular se...	OMIM:301056
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Lateral Meningocele Syndrome	Low-set ears, Decreased muscle mass, Micrognathia, Ventricular septal defect, Bicuspid aortic val...	OMIM:130720
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri...	OMIM:620135
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Clinodactyly, Postnatal growth retardation, Micrognat...	ORPHA:96148
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Long hallux, Overlapping t...	OMIM:618164
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hearing impairment, Abnormal heart morphology, Muscular ventricular septal defect, Overlapping to...	ORPHA:363444
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Ventricular septal defect, Talipes, Shor...	ORPHA:508488
Eng-Strom Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Brachydactyl...	ORPHA:1937
Microphthalmia, Syndromic 9	Severe short stature, Hypoplastic left atrium, Right aortic arch with mirror image branching, Low...	OMIM:601186
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Houge-Janssens Syndrome 3	Broad nasal tip, Megalocornea, Muscular ventricular septal defect, Umbilical hernia, Atrial septa...	OMIM:618354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Genitopalatocardiac Syndrome	Low-set ears, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the gr...	OMIM:231060
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Talip...	OMIM:612474
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Ventricular septal defect, Trunc...	OMIM:616589
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Wide nasal bridge, Rhizomelia, Platyspondyly, Cataract, Narrow chest, Abnormal clav...	ORPHA:93267
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Micro...	ORPHA:3304
Frank-Ter Haar Syndrome	Low-set ears, Megalocornea, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, ...	OMIM:249420
Atelosteogenesis, Type I	Low-set ears, Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Micrognathia...	OMIM:108720
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Talipes equinovarus, Pes plan...	ORPHA:477817
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intra...	ORPHA:397590
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Postnatal growth retardation, L...	ORPHA:254534
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Koolen-De Vries Syndrome	Aortic root aneurysm, Pear-shaped nose, Ventricular septal defect, Bicuspid aortic valve, Atrial ...	OMIM:610443
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Vert...	OMIM:277300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Desbuquois Syndrome	Small hand, Elbow dislocation, Bell-shaped thorax, Ventricular septal defect, Radioulnar synostos...	ORPHA:1425
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Pes ...	OMIM:618870
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Cataract, Narrow chest, Hypoplastic cervical verteb...	ORPHA:2635
Diaphanospondylodysostosis	Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S...	ORPHA:66637
Birk-Aharoni Syndrome	Absent patellar reflexes, Hearing impairment, Long nasal bridge, Muscular ventricular septal defe...	OMIM:620071
Rubinstein-Taybi Syndrome 1	Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Postnatal growth r...	OMIM:180849
Alg12-Cdg	Biventricular hypertrophy, Overlapping fingers, Micrognathia, Sensorineural hearing impairment, T...	ORPHA:79324
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Limitation of joint mo...	ORPHA:90650
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly...	ORPHA:1120
Ogden Syndrome	Low-set ears, Flared nostrils, Delayed cranial suture closure, Recurrent otitis media, Postnatal ...	OMIM:300855
Carpenter Syndrome 1	Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss...	OMIM:201000
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the u...	OMIM:119100
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Cervi...	OMIM:214300
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Ventricular fibri...	OMIM:115197
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ...	OMIM:609052
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Sensorineural hearing impairment, ...	ORPHA:3320
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L...	ORPHA:1488
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipe...	ORPHA:567
Stuve-Wiedemann Syndrome 1	Low-set ears, Wide nasal base, Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Tal...	OMIM:601559
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn...	OMIM:258315
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Intr...	ORPHA:254528
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Short neck, Pes planus, Hip dislocatio...	OMIM:618000
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Low-set, posteriorly rotated ears...	ORPHA:2311
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Depressed nasal ridge, Short 3rd metacarpal, Micromelia, Short tibia, Epiphyseal stippling, Short...	OMIM:118651
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar...	ORPHA:79345
Spondylocostal Dysostosis 5	Severe short stature, Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short n...	OMIM:122600
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal de...	OMIM:620076
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo...	ORPHA:138
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility, Arachnodactyly, Coarctation ...	ORPHA:261243
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Micrognathia, Bowing of th...	ORPHA:628
Noonan Syndrome	Postnatal growth retardation, Micrognathia, Sensorineural hearing impairment, Radioulnar synostos...	ORPHA:648
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Depressed nasal bridge, Broad nasal tip, Cupped ear, Kyphosis, Ectopia pupillae, De...	OMIM:618223
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical...	OMIM:600001
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Overlapping toe, Right aortic arch, V...	OMIM:617478
Halperin-Birk Syndrome	Hearing impairment, Umbilical hernia, Intrauterine growth retardation, Micrognathia, Congenital d...	OMIM:618651
Myhre Syndrome	Aortic valve stenosis, Low-set ears, Limitation of joint mobility, Hearing impairment, Clinodacty...	OMIM:139210
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad nasal tip, Short distal phalanx of the thumb, Upper limb mu...	ORPHA:370010
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Abnormal thorax morp...	ORPHA:1445
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Toe syndactyly, Conductive hearing impairment, Finger sy...	ORPHA:87
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Lethal Faciocardiomelic Dysplasia	Hypoplastic left heart, Short 5th finger, Microretrognathia, Sandal gap, Short tibia, Short thumb...	ORPHA:1972
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, Muscular ventricular septal defect, Adducted thumb, Brachydactyly, Short stature	OMIM:620062
Duane-Radial Ray Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes pla...	OMIM:607323
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Wide nasal bridge, Abnormal rib morphology, Intrauterine growth retardation...	ORPHA:1797
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Iris coloboma, Cataract...	OMIM:109400
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ...	ORPHA:1826
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Nemaline bodies, Cardiomyopathy, Underdeveloped nasal alae, Bulbous nose, Micrognat...	OMIM:616549
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Microcephaly With Cervical Spine Fusion Anomalies	Short stature, Spinal instability, Vertebral fusion	OMIM:251250
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Astigmatism, Ventricular septa...	OMIM:617159
Acromesomelic Dysplasia 2A	Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi...	OMIM:200700
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, I...	OMIM:608779
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Le...	OMIM:306955
Achondrogenesis Type 1B	Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat...	ORPHA:93298
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Joint stiffness, Micrognathia, Abnormal hip bone morphology, Congenital diap...	ORPHA:1166
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac...	ORPHA:980
Femoral-Facial Syndrome	Low-set ears, Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Short femu...	ORPHA:1988
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Intrauterin...	ORPHA:1913
Fibrochondrogenesis 1	Low-set ears, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Megaloc...	OMIM:228520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Ventricular septal def...	OMIM:616897
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Atresia of the e...	OMIM:301022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g...	OMIM:606612
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Nemaline bodies, Cardiomyopathy, Fusion of midcervical facet joints, Limb muscle weakness, Wideni...	OMIM:606842
Frontonasal Dysplasia 1	Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Broad nasal tip, Conductiv...	OMIM:136760
Wrinkly Skin Syndrome	Low-set ears, Hypoplasia of the musculature, Delayed cranial suture closure, Talipes equinovarus,...	OMIM:278250
Alagille Syndrome	Keratoconus, Micrognathia, Ventricular septal defect, Atrial septal defect, Long nose, Delayed sk...	ORPHA:52
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micrognathia...	OMIM:213980
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Abnormality of the vertebral column, Short toe, Carpal synost...	OMIM:112910
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor...	OMIM:253000
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab...	ORPHA:168549
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Cataract, Disproportionate short-limb short stature, Micromelia, Low-set,...	ORPHA:2772
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Mi...	ORPHA:1926
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact...	OMIM:268310
Koolen-De Vries Syndrome	Wide nasal bridge, Cataract, Hip dislocation, Underdeveloped nasal alae, Thick nasal alae, Bulbou...	ORPHA:96169
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of...	OMIM:305620
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Osteo...	ORPHA:2326
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
8P23.1 Microdeletion Syndrome	Low-set ears, Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Pes planus,...	ORPHA:251071
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Hearing impairment, Sandal gap, Talipes valgus, Talipes equinovalgus, Ventr...	OMIM:616652
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Fetal ascites, Micromelia, F...	OMIM:215045
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Oligohydramnios, Situs inversus totalis, Femo...	OMIM:615415
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap, Butterfly vert...	OMIM:607143
Robinow Syndrome	Low-set ears, Flared nostrils, Micrognathia, Ventricular septal defect, Atrial septal defect, Mes...	ORPHA:97360
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Mitral valve prolapse, Ventricular septal defect, Contract...	OMIM:300166
Kagami-Ogata Syndrome	Depressed nasal bridge, Limitation of joint mobility, Thoracic hypoplasia, Premature birth, Postn...	ORPHA:254519
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Ventricular septal defect, Atria...	OMIM:190685
Microphthalmia, Syndromic 3	Cataract, Postnatal growth retardation, Butterfly vertebrae, Sensorineural hearing impairment, Ve...	OMIM:206900
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair...	OMIM:253010
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Short neck, Brachydactyly, Central posterior...	OMIM:244600
Cantú Syndrome	Finger syndactyly, Short neck, Short hallux, Patent ductus arteriosus, Ovoid vertebral bodies, De...	ORPHA:1517
Ciliary Dyskinesia, Primary, 53	Ductus venosus agenesis, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiom...	OMIM:620642
Restrictive Dermopathy 1	Low-set ears, Increased anterioposterior diameter of thorax, Micrognathia, Neonatal death, Atrial...	OMIM:275210
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ...	ORPHA:356961
Shashi-Pena Syndrome	Low-set ears, Broad nasal tip, Cupped ear, Dilation of Virchow-Robin spaces, Kyphosis, Intrauteri...	OMIM:617190
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limitation of joint mobility, Synostosis of carpal bones, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
X-Linked Intellectual Disability, Nascimento Type	Hearing impairment, Overlapping toe, Ventricular septal defect, Bilateral talipes equinovarus, Sh...	ORPHA:163956
Contractural Arachnodactyly, Congenital	Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve...	OMIM:121050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro...	OMIM:607155
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Kyphomelic Dysplasia	Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ...	ORPHA:1801
Mucopolysaccharidosis Type 4	Hearing impairment, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Joint di...	ORPHA:582
Maternal Phenylketonuria	Hypoplastic left heart, Hypoplastic helices, Wide nasal bridge, Clinodactyly, Abnormal heart morp...	ORPHA:2209
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly...	OMIM:618569
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia	OMIM:618254
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Achondrogenesis Type 1A	Severe short stature, Narrow chest, Abnormal enchondral ossification, Thickened nuchal skin fold,...	ORPHA:93299
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Diaphyseal undertub...	ORPHA:175
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Micrognathia, ...	OMIM:617022
Microcephaly-Micromelia Syndrome	Low-set ears, Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine gro...	OMIM:251230
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe...	OMIM:608328
Brachydactyly, Type A4	Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Congenital talipes calcaneov...	OMIM:112800
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short nec...	ORPHA:2522
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory c...	OMIM:265000
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Low-set ears, Unbalanced atrioventricular canal defect, Toe syndactyly, Thoracic aortic aneurysm,...	OMIM:619657
Distal Deletion 15Q	Low-set ears, Small hand, Hearing impairment, Postnatal growth retardation, Genu valgum, Microgna...	ORPHA:1596
Ververi-Brady Syndrome	Low-set ears, Metaphyseal irregularity, Broad nasal tip, Cupped ear, Delayed skeletal maturation,...	OMIM:617982
Gillespie Syndrome	Hypoplasia of the iris, Aniridia, Truncus arteriosus	OMIM:206700
Langer Mesomelic Dysplasia	Increased carrying angle, Radial bowing, Short tibia, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Prominent nose, Decreased fetal movement, Double outlet right ventricle, Atria...	OMIM:614886
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Dextrotranspo...	OMIM:619995
Alkaptonuria	Aortic valve calcification, Limited hip movement, Brown pigmentation of the conjunctiva, Thickene...	OMIM:203500
Feingold Syndrome Type 1	Interrupted aortic arch, Toe syndactyly, Conductive hearing impairment, Short thumb, Abnormal hea...	ORPHA:391641
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Internally rotated shoulders, Micrognathia, Hip contracture...	OMIM:619503
Osteogenesis Imperfecta	Thin ribs, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, Enlarged vertebra...	ORPHA:666
Trisomy 13	Low-set ears, Iris coloboma, Abnormal helix morphology, Cataract, Kyphosis, Narrow chest, Abnorma...	ORPHA:3378
Developmental And Speech Delay Due To Sox5 Deficiency	Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regurgitation, 2-3 toe syndac...	ORPHA:313892
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal form of the vertebral bodies, Elbow dislocation, Thi...	ORPHA:2916
Gorlin Syndrome	Abnormal vertebral morphology, Wide nasal bridge, Iris coloboma, Cataract, Plantar pits, Vertebra...	ORPHA:377
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,...	ORPHA:2616
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Disproportionate short-limb short stature, Short toe, Micromelia, Sho...	ORPHA:2098
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Axenfeld anomaly, Ventricular septal defect, Sensorineural hearing impairment, Tela...	OMIM:612582
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Congenital m...	OMIM:118100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Pes planus...	OMIM:609616
3C Syndrome	Aortic valve stenosis, Low-set ears, Finger syndactyly, Chorioretinal coloboma, Postnatal growth ...	ORPHA:7
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,...	OMIM:151210
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Low-set ears, Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib...	OMIM:300232
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Sensorineural hearing impairment...	ORPHA:2790
Codas Syndrome	Depressed nasal bridge, Crumpled ear, Cataract, Congenital hip dislocation, Abnormal form of the ...	ORPHA:1458
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot...	OMIM:615779
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hypoplastic left heart, Depressed nasal ridge, Hearing impairment, Tetra...	ORPHA:1727
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Low-set ears, Hearing impairment, Thoracic hemivertebrae, Micrognathia, B...	OMIM:301043
Diamond-Blackfan Anemia 7	Choanal atresia, Osteopenia, Small hypothenar eminence, Secundum atrial septal defect, Hearing im...	OMIM:612562
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmat...	ORPHA:373
Klippel-Feil Syndrome 3, Autosomal Dominant	Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci...	OMIM:613702
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Kagami-Ogata Syndrome	Thin ribs, Depressed nasal bridge, Premature birth, Anteverted nares, Bell-shaped thorax, Diastas...	OMIM:608149
Primary Ciliary Dyskinesia	Nasal polyposis, Conductive hearing impairment, Hearing impairment, Atrial situs ambiguous, Abnor...	ORPHA:244
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Low-set, posteriorly rotated ears, Clinodactyly o...	ORPHA:2475
Noonan Syndrome 12	Tetralogy of Fallot, 11 pairs of ribs, Supravalvular aortic stenosis, Ventricular septal defect, ...	OMIM:618624
Acromesomelic Dysplasia 2C	Hip dislocation, Shortening of all middle phalanges of the fingers, Elbow dislocation, Radial bow...	OMIM:201250
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Knee contracture, Hip contracture, Irregular vertebral endplates, Cataract, Osteope...	OMIM:222765
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Hadziselimovic Syndrome	Low-set ears, Ventricular hypertrophy, Delayed skeletal maturation, Tetralogy of Fallot, Antevert...	OMIM:612946
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnorm...	OMIM:200600
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bo...	OMIM:619636
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Dilated cardiomyopathy, Muscular ventricular septal defect, Intrauterine ...	ORPHA:66634
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal defect, Pes planus...	OMIM:620663
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t...	ORPHA:1836
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Ventricular s...	OMIM:280000
Intellectual Developmental Disorder, Autosomal Dominant 66	Low-set ears, Pectus carinatum, Toe clinodactyly, Secundum atrial septal defect, Aortic root aneu...	OMIM:619910
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo...	ORPHA:1106
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Wide nasal bridge, Thin ribs, Coronal craniosynostosis, Underdeveloped nasal alae, ...	ORPHA:83617
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w...	OMIM:253200
Mosaic Trisomy 20	Narrow chest, Hearing impairment, Clinodactyly, Spinal canal stenosis, Intrauterine growth retard...	ORPHA:1724
Congenital Syphilis	Cataract, Keratitis, Hearing impairment, Premature birth, Intrauterine growth retardation, Large ...	ORPHA:499009
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ...	ORPHA:958
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Depressed nasal ridge, Rhizomelia, Platyspondyly, Thin ribs, Metaphyseal cupping of...	OMIM:300863
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Absent hand, Ameli...	ORPHA:2538
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Sho...	OMIM:309620
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Short tibia, Micrognathia, Neonatal death, Short neck, Abnormal pinna morphology, T...	OMIM:617925
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Microcornea, Broad thumb, Limitation of joint mobility, Interphalangeal joint co...	OMIM:151200
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o...	OMIM:253220
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygi...	OMIM:618469
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Short neck, Lens subluxation, Meningocele, Facial pa...	ORPHA:3456
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Postnatal growth retardation, Micrognathi...	OMIM:618150
Duane Retraction Syndrome	Hearing impairment, Chorioretinal coloboma, Micrognathia, Sensorineural hearing impairment, Talip...	ORPHA:233
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine grow...	OMIM:609053
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ectopia pupillae, Micrognathia, Ventricular septal defect, Sensorineural h...	OMIM:194190
Trichohepatoenteric Syndrome 1	Low-set ears, Depressed nasal ridge, Aortic regurgitation, Tetralogy of Fallot, Intrauterine grow...	OMIM:222470
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Anosmia, Hypoplasia of the iris, Ocular albinism, Aplasia of the semicircu...	OMIM:611584
3Q29 Microdeletion Syndrome	Low-set ears, Cataract, Pectus carinatum, Prominent nasal bridge, Clinodactyly of the 5th finger,...	ORPHA:65286
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho...	OMIM:166210
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Absence of the sacrum, Atrial reentry tachycardia, Atrio...	OMIM:270100
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Unde...	OMIM:184460
Digeorge Syndrome	Interrupted aortic arch, Low-set ears, Right aortic arch with mirror image branching, Umbilical h...	OMIM:188400
Prune Belly Syndrome	Congenital hip dislocation, Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Vert...	ORPHA:2970
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal...	OMIM:223800
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Low-set, posterio...	ORPHA:1703
Craniodiaphyseal Dysplasia	Wide nasal bridge, Depressed nasal bridge, Conductive hearing impairment, Stenosis of the externa...	ORPHA:1513
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Decreased muscle mass, Hip contracture, Sensorineural hearing impairme...	OMIM:617137
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Bell-shaped thorax, Encephalocele, Flat acetabular roof, Patent ductus arteriosus, M...	OMIM:616300
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor...	ORPHA:1436
Meckel Syndrome, Type 1	Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Large placenta, ...	OMIM:249000
Viss Syndrome	Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ...	OMIM:619472
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Kapur-Toriello Syndrome	Low-set ears, Iris coloboma, Joint contracture of the hand, Cataract, Conductive hearing impairme...	OMIM:244300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndacty...	ORPHA:3082
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Prominent nose, 11 pair...	OMIM:201170
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Low-set ears, Choanal atresia, Iris coloboma, Cupped ear, Hearing impairment, Optic disc coloboma...	ORPHA:52055
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Depressed nasal bridge, Pectus carinatum, Prominent nose, Anteverted nares, Asymmet...	OMIM:617796
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Abnormal vestibular function, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Sensorin...	OMIM:617992
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Elbow dislocation, Genu valgu...	OMIM:143095
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal form of the vertebral bodies, Clinodac...	ORPHA:2759
Juberg-Hayward Syndrome	Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Intrauterine gr...	ORPHA:2319
Thakker-Donnai Syndrome	Tetralogy of Fallot, Bulbous nose, Intrauterine growth retardation, Anteverted nares, Congenital ...	ORPHA:1780
Kbg Syndrome	Radial deviation of finger, Underdeveloped nasal alae, Cervical ribs, Delayed skeletal maturation...	OMIM:148050
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe...	OMIM:277600
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Coarctation of aorta, Ethmoidal encephalocele, Abnormal rib morpho...	ORPHA:280195
Limb Body Wall Complex	Progressive congenital scoliosis, Cutaneous finger syndactyly, Congenital diaphragmatic hernia, E...	ORPHA:2369
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small th...	OMIM:613458
Melnick-Needles Syndrome	Anisospondyly, Narrow chest, Short distal phalanx of finger, Hearing impairment, Abnormal rib mor...	ORPHA:2484
Renpenning Syndrome	Severe short stature, Iris coloboma, Cataract, Skeletal muscle atrophy, Broad columella, Abnormal...	ORPHA:3242
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Depressed nasal bridge, Wide nasal bridge, Abnormal form of the vertebral bodies, S...	ORPHA:2180
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Limitation of joint mobility, Amn...	ORPHA:1486
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Orofaciodigital Syndrome Xvii	Low-set ears, Hearing impairment, Clinodactyly, Clubbing of fingers, Tetralogy of Fallot, Promine...	OMIM:617926
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Kyphosis, Hearing impairment,...	ORPHA:583
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse...	OMIM:250420
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Low-set ears, Depressed nasal bridge, Clinodactyly, Bulbous nose, Patent foramen ovale, Talipes e...	OMIM:616789
Tibial Hemimelia	Absent tibia	OMIM:275220
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Postaxial polysyndactyly...	OMIM:263520
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Limitation of joint mobility, Hearing impairment, Finger syndactyly, Micrognathia, ...	ORPHA:2990
Giant Cell Arteritis	Epistaxis, Vasculitis, Conductive hearing impairment, Hearing impairment, Aortic dissection, Doub...	ORPHA:397
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislo...	ORPHA:3258
Catel-Manzke Syndrome	Low-set ears, Narrow naris, Postnatal growth retardation, Ulnar deviation of the 2nd finger, Genu...	OMIM:616145
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Wide nasal bridge, Platyspondyly, Broad clavicles, Aortic regurgitation, I...	OMIM:619698
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgi...	OMIM:271640
De Barsy Syndrome	Low-set ears, Decreased muscle mass, Prominent veins on trunk, Talipes calcaneovalgus, Postnatal ...	ORPHA:2962
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular...	OMIM:612447
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Low-set...	ORPHA:1908
Orofaciodigital Syndrome Type 10	Depressed nasal bridge, Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Shor...	ORPHA:2756
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Broad femoral neck, Small cervical vertebral bodies, Short 1st met...	OMIM:135100
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, ...	OMIM:611209
Orofaciodigital Syndrome Viii	Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Short stature, Syndactyly	OMIM:300484
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Finger syndact...	ORPHA:1507
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Disproportionate short-limb ...	OMIM:608728
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Low-set ears, Wide nasal bridge, Intrauterine growth retardation, Joint hypermobility, Cervical C...	OMIM:617333
Mosaic Trisomy 9	Low-set ears, Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Microg...	ORPHA:99776
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Cupped ear, Premature birth, Third degree atrioventricular block, Abnor...	ORPHA:40366
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Hurler Syndrome	Abnormal vertebral morphology, Limitation of joint mobility, Hearing impairment, Endocardial fibr...	ORPHA:93473
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ...	OMIM:259440
Microphthalmia With Limb Anomalies	Low-set ears, Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retar...	OMIM:206920
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell...	OMIM:614524
Chops Syndrome	Cataract, Hearing impairment, Tracheomalacia, Anteverted nares, Patent foramen ovale, Ventricular...	OMIM:616368
Otopalatodigital Syndrome, Type Ii	Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth re...	OMIM:304120
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous f...	OMIM:186500
Gm1-Gangliosidosis, Type I	Severe short stature, Depressed nasal ridge, Dilated cardiomyopathy, Cherry red spot of the macul...	OMIM:230500
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Hearing impairment, Anteverted nares, Prominent nasal bridge, Clino...	OMIM:227330
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi...	OMIM:184400
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Mitral valve p...	OMIM:182212
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec...	OMIM:618395
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Depressed nasal ridge, Rhizomelia, Platyspondyly, Thin ribs, Abnormality of the cal...	ORPHA:163966
Leopard Syndrome 3	Low-set ears, Depressed nasal bridge, Delayed skeletal maturation, Tetralogy of Fallot, Abnormal ...	OMIM:613707
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Postnatal growth retardation, Ventricular...	OMIM:192350
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Hearing impairment, Umbilical hernia, Joint stiffne...	OMIM:252900
Doors Syndrome	Low-set ears, Wide nasal base, Atresia of the external auditory canal, Equinovarus deformity, Lum...	ORPHA:79500
Blomstrand Lethal Chondrodysplasia	Low-set ears, Synostosis of joints, Distal shortening of limbs, Micrognathia, Bowing of the long ...	ORPHA:50945
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Ivic Syndrome	Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp...	OMIM:147750
Schwartz-Jampel Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Myopathy, Bowing of the long bones...	ORPHA:800
Grant Syndrome	Depressed nasal bridge, Narrow chest, Abnormality of the glenoid fossa, Joint dislocation, Abnorm...	ORPHA:2097
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Oligohydramnios, Micrognathia, Ab...	ORPHA:2145
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Recurrent otitis media, Postnatal growth retardation, Hypoplastic inferior ilia...	OMIM:608940
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:2077
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Microretrognathia, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib ...	ORPHA:276422
Three M Syndrome 2	Severe short stature, Depressed nasal bridge, Thin ribs, Pectus carinatum, Short 5th finger, Clin...	OMIM:612921
Recombinant 8 Syndrome	Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Hearing impairment, Abnormal ...	ORPHA:96167
Poland Syndrome	Abnormality of the outer ear, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, C...	ORPHA:2911
Mosaic Trisomy 8	Limitation of joint mobility, Hearing impairment, Micrognathia, Abnormal antihelix morphology, Pa...	ORPHA:96061
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab...	ORPHA:2306
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske...	OMIM:602111
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Postnatal growth retar...	OMIM:210720
Mungan Syndrome	Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Lamb-Shaffer Syndrome	Broad nasal tip, Micrognathia, Mild postnatal growth retardation, Fused cervical vertebrae, Hip d...	ORPHA:530983
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Depressed nasal bridge, Toe syndactyly, Microretrogna...	ORPHA:261344
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect...	OMIM:314390
Nestor-Guillermo Progeria Syndrome	Thin ribs, Micrognathia, Mitral regurgitation, Limited elbow movement, Right atrial enlargement, ...	OMIM:614008
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Kapur-Toriello Syndrome	Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Tetralogy ...	ORPHA:2328
Lethal Kniest-Like Dysplasia	Low-set ears, Platyspondyly, Narrow chest, Hypoplastic ilia, Flared metaphysis, Broad long bones,...	ORPHA:2347
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Ovoid vertebral bo...	ORPHA:85167
Jeune Syndrome	Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho...	ORPHA:474
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibi...	ORPHA:64755
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis...	OMIM:620570
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Short ribs, Missing ribs, R...	OMIM:271520
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Broad foot, Ventricular septal defect, Neonatal death, Short ...	OMIM:269860
Fibrochondrogenesis	Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Abnormal form of the ve...	ORPHA:2021
Codas Syndrome	Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Ventricular septal defect, Sensori...	OMIM:600373
Cleidocranial Dysplasia	Hypoplastic scapulae, Hearing impairment, Genu valgum, Micrognathia, Decreased skull ossification...	ORPHA:1452
Cousin Syndrome	Low-set ears, Joint contracture of the hand, Hypoplastic scapulae, Hearing impairment, Hypoplasti...	OMIM:260660
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte...	OMIM:146510
Fumarase Deficiency	Depressed nasal bridge, Conjunctival icterus, Anteverted nares, Bilateral fetal pyelectasis, Peri...	OMIM:606812
Timothy Syndrome	Depressed nasal bridge, Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventri...	OMIM:601005
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Low-set ears, Choanal atresia, Cupped ear, Optic disc coloboma, Prominent nasal bridge, Lop ear, ...	OMIM:300472
Osteogenesis Imperfecta, Type Xviii	Wide nasal bridge, Thin ribs, Umbilical hernia, Micrognathia, Femoral bowing, Biconcave vertebral...	OMIM:617952
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Hajdu-Cheney Syndrome	Low-set ears, Genu valgum, Micrognathia, Fibular bowing, Ventricular septal defect, Crowded carpa...	OMIM:102500
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Micrognathia...	ORPHA:444077
Weiss-Kruszka Syndrome	Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th...	OMIM:618619
Hyperparathyroidism, Transient Neonatal	Low-set ears, Thin ribs, Fractured rib, Patent ductus arteriosus, Osteopenia, Femoral bowing, Und...	OMIM:618188
Orofaciodigital Syndrome Ix	Bifid nasal tip, Broad nasal tip, Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly...	OMIM:258865
Campomelic Dysplasia	Low-set ears, Thin ribs, Hypoplastic scapulae, Delayed epiphyseal ossification, Hypoplastic cervi...	OMIM:114290
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, ...	ORPHA:3027
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tracheomalacia, Short thumb, Tetralogy of Fallot, Micrognathia, Mitral r...	OMIM:612561
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Fibular aplasia, Micrognathia, Ventricular septal de...	OMIM:300373
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Iris coloboma, Hearing impairment, 11 pairs of ribs, Ventricular s...	ORPHA:77298
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence...	OMIM:268305
Alagille Syndrome 1	Low-set ears, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Atrial septal d...	OMIM:118450
Cat-Eye Syndrome	Hearing impairment, Chorioretinal coloboma, Intrauterine growth retardation, Abnormal rib morphol...	ORPHA:195
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi...	OMIM:600920
Acrorenal-Mandibular Syndrome	Low-set ears, Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Wildervanck Syndrome	Abnormality of the outer ear, Hearing impairment, Fused cervical vertebrae	OMIM:314600
Aicardi Syndrome	Cataract, Block vertebrae, Optic disc coloboma, Postnatal growth retardation, Anteverted nares, B...	OMIM:304050
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal mitral valve morphology, Se...	ORPHA:217085
Kyphomelic Dysplasia	Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant...	OMIM:211350
Trisomy 18	Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Cyclopia, Iris ...	ORPHA:3380
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Atrial septal defe...	OMIM:311900
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Micrognathia, Joint hypermobility, Supernumerary ribs, Pes planus, Six lumbar v...	OMIM:619122
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Tetralo...	ORPHA:3186
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Osteogenesis Imperfecta, Type Iii	Thin ribs, Neonatal short-limb short stature, Disproportionate short-limb short stature, Hearing ...	OMIM:259420
Noonan Syndrome 2	Low-set ears, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic val...	OMIM:605275
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia, Distal amyotrophy, Growth delay, Hearing impairment, Pes cavus, Portal hypertension, Dec...	OMIM:609136
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Wide nasal bridge, Pectus carinatum, Stapes ankylosis, Tetralogy of Fallot, Antever...	OMIM:614701
Jacobsen Syndrome	Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Finger syndactyly, Lon...	ORPHA:2308
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Hearing impairment, Congenital diaphragmatic hernia, Broad foot, Ventricular septal ...	OMIM:312870
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Limitation of joint mobility, Abnormal mitral valve morphology, Se...	ORPHA:217093
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Depressed nasal bridge, Narrow chest, Hypoplastic ilia, Thoracic hypoplasia, Microm...	OMIM:617895
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Branchiootorenal Syndrome 1	Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductive hearing imp...	OMIM:113650
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Br...	OMIM:252600
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Clinodactyly, Overlapping t...	OMIM:154400
Postaxial Acrofacial Dysostosis	Low-set ears, Choanal atresia, Congenital hip dislocation, Conductive hearing impairment, Cupped ...	OMIM:263750
Dysosteosclerosis	Hearing impairment, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased int...	OMIM:224300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Skeletal muscle atrophy, Limitation of joint mobility, Abnormal rib morphology,...	ORPHA:3068
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Mitral regurgitation, Vent...	ORPHA:99125
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Micrognathia, Short nec...	OMIM:271665
Meier-Gorlin Syndrome 1	Low-set ears, Thin ribs, Joint contracture of the hand, Small hand, Hearing impairment, Atresia o...	OMIM:224690
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Cataract, Abnormal epiphysis morphology, Delayed skeletal maturation, Intra...	ORPHA:2643
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature...	OMIM:608681
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Sensorineural...	OMIM:601812
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent otitis media, Situs inversus totalis, Atrial situs inversus, Ven...	OMIM:615067
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Postnatal growth r...	ORPHA:3472
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri...	OMIM:613751
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, ...	ORPHA:95699
Camptodactyly Syndrome, Guadalajara Type 3	Wide nasal base, Sternocleidomastoid amyotrophy, Symblepharon, Broad nasal tip, Osteopenia, Broad...	ORPHA:488434
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Short neck, Dysp...	ORPHA:264450
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Disproportionate short stature, Atrioventricular block, Abnormal sca...	ORPHA:93317
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairment, Tracheomala...	ORPHA:268249
Monosomy 9Q22.3	Low-set ears, Cataract, Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Card...	ORPHA:77301
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Microform Holoprosencephaly	Choanal atresia, Iris coloboma, Tetralogy of Fallot, Intrauterine growth retardation, Narrow nasa...	ORPHA:280200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Narrow chest, Conductive hearing impairment, Hearing impai...	OMIM:616229
Toriello-Carey Syndrome	Low-set ears, Narrow chest, Hearing impairment, Cardiomyopathy, Clinodactyly, Tetralogy of Fallot...	ORPHA:3338
Cat Eye Syndrome	Hypoplastic left heart, Low-set ears, Total anomalous pulmonary venous return, Hearing impairment...	OMIM:115470
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Osteomalacia...	ORPHA:51608
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Craniofacial Microsomia 1	Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit...	OMIM:164210
Mucopolysaccharidosis Type 3	Hearing impairment, Genu valgum, Abnormal mitral valve morphology, Sensorineural hearing impairme...	ORPHA:581
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Premature birth, L...	ORPHA:1834
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Palmoplantar keratoderma, Growth delay, Pulmonic st...	OMIM:615508
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Hypoplasia of the musculature, Small hypothenar eminence, Osteop...	ORPHA:2463
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Hearing impairment, Micrognathia, Short foot, Partial fusion of pr...	OMIM:600383
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Warsaw Breakage Syndrome	Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Postnatal growth retard...	OMIM:613398
Familial Osteodysplasia, Anderson Type	Depressed nasal ridge, Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abn...	ORPHA:2769
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Micrognathia, Ventricular septal defect, Short neck, Small thenar...	OMIM:105650
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, Amniotic const...	ORPHA:2215
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Megalocornea, Micrognathia, Congenital diaphra...	ORPHA:280
Cornelia De Lange Syndrome 6	Low-set ears, Pectus carinatum, Short 1st metacarpal, Posterior rib fusion, Delayed skeletal matu...	OMIM:620568
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intrauterine growth retardation, Micrognathia, Tibial bowing, Abnormality of the l...	ORPHA:3035
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Aortic root aneury...	OMIM:620025
Adams-Oliver Syndrome	Cataract, Gastrointestinal hemorrhage, Short distal phalanx of finger, Arteriovenous malformation...	ORPHA:974
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal peri...	ORPHA:1335
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Underdeveloped nasal alae...	OMIM:192430
Wolcott-Rallison Syndrome	Double outlet right ventricle, Atrial septal defect, Metaphyseal dysplasia, Short stature, Growth...	ORPHA:1667
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Foot polydac...	OMIM:258860
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Hearing impairment, Abnormal ear morphology, Vertebral seg...	ORPHA:3109
Orofaciodigital Syndrome Vi	Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Hypoplastic left heart...	OMIM:277170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Short sta...	ORPHA:2578
Aicardi Syndrome	Block vertebrae, Small hand, Chorioretinal coloboma, Optic disc coloboma, Butterfly vertebrae, Pr...	ORPHA:50
Acromelic Frontonasal Dysostosis	Low-set ears, Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Dilation of Virchow-Robin spac...	OMIM:603671
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Breech presentation, Multiple prenatal fractures, Protrusio aceta...	OMIM:610682
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Thin ribs, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip c...	OMIM:620369
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Intrauterine growth retardation, Recurrent fractures, Micr...	ORPHA:2050
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Pulmonary arteria...	ORPHA:2519
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Congenital d...	ORPHA:818
Holzgreve Syndrome	Macrotia, Low-set, posteriorly rotated ears, Intrauterine growth retardation, Joint stiffness, Ol...	ORPHA:2167
Down Syndrome	Atlantoaxial dislocation, Keratoconus, Ventricular septal defect, Short neck, Round ear, Short no...	ORPHA:870
Meacham Syndrome	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar...	OMIM:608978
Waardenburg Syndrome, Type 1	Wide nasal bridge, Supernumerary vertebrae, Underdeveloped nasal alae, Myelomeningocele, Congenit...	OMIM:193500
Holoprosencephaly	Chorioretinal coloboma, Congenital diaphragmatic hernia, Abnormal antihelix morphology, Ventricul...	ORPHA:2162
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Carpal bone aplasia, Fibular aplasia, Absent ha...	OMIM:200500
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia,...	OMIM:151050
Fryns Syndrome	Wide nasal bridge, Abnormal aortic arch morphology, Narrow chest, Short distal phalanx of finger,...	ORPHA:2059
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Micrognathia, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atr...	OMIM:265380
Woolly Hair Nevus	Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary membrane, Brachydactyly	ORPHA:79414
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the pe...	ORPHA:3301
Carpenter Syndrome 2	Low-set ears, Broad thumb, Narrow naris, Cutaneous finger syndactyly, Sensorineural hearing impai...	OMIM:614976
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist...	ORPHA:73230
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Tarp Syndrome	Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia, Abnormal antihelix morphology,...	ORPHA:2886
Cerebrocostomandibular Syndrome	Low-set ears, Postnatal growth retardation, Bell-shaped thorax, Micrognathia, Ventricular septal ...	OMIM:117650
Holoprosencephaly 14	Low-set ears, Proboscis, Anteverted nares, Ventricular septal defect, Double outlet right ventric...	OMIM:619895
Achondrogenesis, Type Ii	Microretrognathia, Disproportionate short-limb short stature, Broad long bones, Abnormal foot mor...	OMIM:200610
Antley-Bixler Syndrome	Choanal atresia, Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Delaye...	ORPHA:83
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra...	OMIM:208530
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Hearing impairment, Fi...	ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Cataract, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, E...	OMIM:253800
Coffin-Siris Syndrome	Wide nasal base, Hearing impairment, Clinodactyly, Postnatal growth retardation, Ventricular sept...	ORPHA:1465
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Myelopathy, Vertigo, Stiff neck, Tinnitus, Cervical C2/C...	ORPHA:268882
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Tetralogy of Fallot...	ORPHA:210122
Alpha-Mannosidosis, Infantile Form	Genu valgum, Mitral regurgitation, Myopathy, Sensorineural hearing impairment, Short neck, Bilate...	ORPHA:309282
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Ventricular septal defect, Cataract, Osteopenia, Increased susceptibility to...	OMIM:259770
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Orofaciodigital Syndrome Type 2	Short tibia, Finger syndactyly, Micrognathia, Broad first metatarsal, Cone-shaped epiphyses of th...	ORPHA:2751
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Abnormal thorax morphology, Long nose, Patent ductus arteriosus, Anomalous p...	ORPHA:2184
Cog1-Cdg	Wide nasal bridge, Posterior rib gap, Rhizomelia, Osteopenia, Low-set, posteriorly rotated ears, ...	ORPHA:263508
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Hallermann-Streiff Syndrome	Low-set ears, Thin ribs, Chorioretinal coloboma, Micrognathia, Telangiectasia, Iris coloboma, Abn...	OMIM:234100
Chime Syndrome	Abnormality of the outer ear, Depressed nasal ridge, Aplastic clavicle, Aplasia/Hypoplasia of the...	ORPHA:3474
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu...	OMIM:605376
Myhre Syndrome	Severe short stature, Platyspondyly, Cataract, Abnormal epiphysis morphology, Hearing impairment,...	ORPHA:2588
Hydrolethalus Syndrome 1	Low-set ears, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardation,...	OMIM:236680
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b...	ORPHA:89936
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,...	ORPHA:2879
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology, Abnormal EKG, Abnormal heart morphology, Abn...	ORPHA:1666
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Baller-Gerold Syndrome	Low-set ears, Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micr...	OMIM:218600
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Zttk Syndrome	Low-set ears, Small hand, Ventricular septal defect, Breech presentation, Atrial septal defect, S...	OMIM:617140
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fetal distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteo...	OMIM:612852
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil...	ORPHA:2255
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Long hallux, Mitral valve prolapse, Ventricular septal defect, Sensorineural hearing impairment, ...	ORPHA:500095
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Broad nasal tip, Patellar hypoplasia, Thick nas...	ORPHA:1827
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Osteopenia, Disproportionate short-limb short stature, Radial bowing, S...	OMIM:610915
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Hearing impairment, Chorioretinal col...	ORPHA:857
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Hearing impairment, Tetralogy of Fallot, Anteverted ...	ORPHA:96147
Ellis-Van Creveld Syndrome	Pectus carinatum, Neonatal short-limb short stature, Narrow chest, Disproportionate short-limb sh...	OMIM:225500
Floating-Harbor Syndrome	Low-set ears, Clinodactyly, Short neck, Atrial septal defect, Broad fingertip, Long nose, Disloca...	ORPHA:2044
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Atresia of the external audito...	ORPHA:1393
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal cardiac septum morphology, Abnormal rib morphology	ORPHA:93941
Pericardial And Diaphragmatic Defect	Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmatic absence of pericard...	ORPHA:2847
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Recurrent corneal erosions, Nonimmu...	OMIM:153400
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,...	OMIM:300106
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Short distal phalanx of finger, Hearing impairment, Abnormal rib morp...	ORPHA:1647
Alagille Syndrome 2	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Posterior embryotoxon, Atrial septal d...	OMIM:610205
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Wide nasal bridge, Abnormal helix morphology, Finger syndactyly, Short toe, Umbilic...	ORPHA:1519
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Anterior concavit...	OMIM:216340
Occipital Horn Syndrome	Genu valgum, Pes planus, Pectus carinatum, Broad clavicles, Limited elbow extension, Limited knee...	OMIM:304150
Williams Syndrome	Synostosis of joints, Megalocornea, Genu valgum, Micrognathia, Mitral regurgitation, Myopathy, Ve...	ORPHA:904
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Ventricular septal defect, Atria...	OMIM:309500
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Platyspondyly, Mydriasis, Broad femoral neck, Hearing impairment, Broad ribs, ...	OMIM:619727
Kawasaki Disease	Vasculitis, Plantar edema, Conjunctivitis, Double outlet right ventricle with subpulmonary ventri...	ORPHA:2331
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Tricuspid regurgitation, Cardiomegaly, Talipes equinovarus, Limb hypertonia, Thicken...	OMIM:620306
1P36 Deletion Syndrome	Delayed cranial suture closure, Myopathy, Sensorineural hearing impairment, Telangiectasia, Foot ...	ORPHA:1606
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Aspergillosis	Keratitis, Abnormality of the vertebral column, Nasal congestion, Osteomyelitis, Abnormal long bo...	ORPHA:1163
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Umbilica...	ORPHA:116
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Atrioventricular canal...	OMIM:617088
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Postnatal growth retardation, Aplasia/Hypoplasia of the pubic bone, Talipes equinov...	OMIM:269150
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Postnatal growth retardation, Congenital diaphragmatic hernia, ...	OMIM:135900
Esophageal Atresia	Abnormal vertebral morphology, Choanal atresia, Hearing impairment, Clinodactyly, Tetralogy of Fa...	ORPHA:1199
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Low-set, posteriorly rotated ears, Int...	ORPHA:1506
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Hypophosphatasia	Narrow chest, Bowing of the long bones, Abnormal rib morphology, Short stature, Craniosynostosis,...	ORPHA:436
Loeys-Dietz Syndrome 1	Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve pro...	OMIM:609192
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Micrognathia, Short neck, Atrial septal defect, Patent ductus arterio...	OMIM:613610
Ulbright-Hodes Syndrome	Low-set ears, Thin ribs, Postnatal growth retardation, Fibular aplasia, Micrognathia, Humeroradia...	ORPHA:3404
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Narrow naris, Postnatal growth retardation, Micrognathia, Ventricular...	OMIM:268300
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Aortic root aneurysm, Hearing impairment, Ventricular septal defect, Sensorineural ...	OMIM:607872
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Abnormality of the vertebral column, Micrognathia, Sprengel anomal...	OMIM:601076
Pallister-Hall Syndrome	Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing...	ORPHA:672
Radio-Renal Syndrome	Severe short stature, Depressed nasal bridge, Abnormal form of the vertebral bodies, Micromelia, ...	ORPHA:3015
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Finger syndactyly, A...	ORPHA:2753
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sep...	OMIM:618280
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Micrognat...	ORPHA:798
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Postnatal growth retardati...	OMIM:619127
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Delayed cranial suture closure, Micrognathia, Sensorineural hearing im...	OMIM:619325
Criss-Cross Heart	Abnormal thorax morphology, Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve...	ORPHA:1461
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Disproportionate short-limb short stature, ...	ORPHA:3144
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal m...	ORPHA:249
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita...	ORPHA:3097
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ...	OMIM:602196
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Oligohydramnios, Abnormal thorax morphology, Bowing of the long bon...	ORPHA:1318
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormal clavicle morphology, Situs inversus...	ORPHA:991
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Ventricular sept...	OMIM:600460
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Hearing impairment, Abnormal pulmonary valve morphol...	ORPHA:667
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr...	ORPHA:2473
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner...	ORPHA:705
Fryns Syndrome	Low-set ears, Thin ribs, Joint contracture of the hand, Abnormal helix morphology, Ventricular se...	OMIM:229850
Townes-Brocks Syndrome 1	Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second metacarpal, Sensorineural hearing ...	OMIM:107480
Phace Syndrome	Iris coloboma, Cataract, Aortic root aneurysm, Abnormal sternum morphology, Abnormal heart morpho...	ORPHA:42775
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Pyknoachondrogenesis	Low-set ears, Depressed nasal ridge, Abnormal intramembranous ossification, Unossified sacrum, Sh...	ORPHA:3003
Elsahy-Waters Syndrome	Low-set ears, Wide nasal bridge, Bifid nasal tip, Cataract, Megalocornea, Shortening of all phala...	OMIM:211380
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Neurocardiofaciodigital Syndrome	Cataract, Hearing impairment, Tetralogy of Fallot, Overhanging nasal tip, Polydactyly, Sclerocorn...	OMIM:619869
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Tracheomalaci...	ORPHA:95430
Monosomy 9P	Low-set ears, Choanal atresia, Depressed nasal bridge, Limitation of joint mobility, Atresia of t...	ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cranium bifidum occultum, Cataract, Conductive hearing impairment, Underdevelo...	ORPHA:306542
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Kleefstra Syndrome 1	Hearing impairment, Anteverted nares, Conotruncal defect, Talipes equinovarus, Brachydactyly, Mac...	OMIM:610253
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ...	ORPHA:2554
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Osteomalacia, Genu valgum, Micrognathia, Patellar dislocation, Hip dislocation, Chro...	ORPHA:534
Autosomal Dominant Popliteal Pterygium Syndrome	Choanal atresia, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Joint stiffness, Microgn...	ORPHA:1300
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd...	ORPHA:2052
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Thoracic Outlet Syndrome	Abnormal rib morphology, Varicose veins	ORPHA:97330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Hyphema, Ectopia pupillae, Recurrent otitis media, Long hallux, Genu valgu...	ORPHA:261552
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Isotretinoin Embryopathy-Like Syndrome	Anotia, Micrognathia, Conotruncal defect, Microtia	OMIM:243440
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Ectopia cordis, Anencephaly...	OMIM:313850
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures, Senso...	ORPHA:18
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort...	ORPHA:391665
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Hereditary Acrokeratotic Poikiloderma	Hearing impairment, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joi...	ORPHA:2907
Lead Poisoning	Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Sh...	ORPHA:2908
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
Intellectual Developmental Disorder, Autosomal Dominant 34	Hearing impairment, Anteverted nares, Oligohydramnios, 2-3 toe syndactyly, Short foot	OMIM:616351

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cert1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cert1.

No publications found that use IMPC mice or data for Cert1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cert1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cert1 MGI:1915268

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

DSS Histology

X-ray

X-ray

Eye Morphology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Cert1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data