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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
preweaning lethality, incomplete penetrance		Cert1^{tm1a(KOMP)Wtsi}	HOM		Early adult	0.00
decreased mean corpuscular hemoglobin		Cert1^{tm1a(KOMP)Wtsi}	HET		Early adult	4.32×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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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 (764 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		Anteverted nares, 2-3 toe syndactyly, Oligohydramnios, Short foot, Hearing impairment	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	Imbalanced hemoglobin synthesis, Anemia	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	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Verheij Syndrome	Branchial cyst, Vertebral fusion, Joint laxity, Short stature, Ventricular septal defect, Antever...	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	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Conductive hearing impairment, Clinodactyly of the 5th finger, Spina bifida occulta, ...	OMIM:617877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Short neck, Micrognathia, Joint stiffness, ...	ORPHA:2516
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Anomalous origin of left coronary artery ...	OMIM:618845
Sandestig-Stefanova Syndrome	Decreased fetal movement, Prominent metopic ridge, Rocker bottom foot, Short neck, Muscular ventr...	OMIM:618804
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, P...	ORPHA:401935
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas...	OMIM:618378
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal grow...	OMIM:179613
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Missing ribs, Hemive...	OMIM:220210
Emanuel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ...	OMIM:609029
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate...	ORPHA:1354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Generalized joint laxity, Co...	ORPHA:508498
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgn...	ORPHA:96170
Snijders Blok-Campeau Syndrome	Joint laxity, Prominent nose, Abnormal foot morphology, Wide nasal bridge, Perimembranous ventric...	OMIM:618205
Charge Syndrome	Polyhydramnios, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Col...	OMIM:214800
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno...	ORPHA:2378
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Atrial septal defect, Pulmonary artery atresia, Patent fo...	OMIM:618316
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Underdeveloped nasal alae, Hydranencephaly, Truncus arteriosus, Short ...	OMIM:601355
Phaver Syndrome	Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon...	ORPHA:2876
Distal 22Q11.2 Microdeletion Syndrome	Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial fistula, Short statur...	ORPHA:261330
Stankiewicz-Isidor Syndrome	Sacral dimple, Ventricular septal defect, Prominent nose, Micrognathia, Short thumb, Patent ductu...	OMIM:617516
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Micrognathia, Postnatal growth retardation, Congenital sensorineural hearing impai...	ORPHA:73272
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conductive hearing impair...	OMIM:157800
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal heart morp...	ORPHA:439167
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short...	ORPHA:198
Greenberg Dysplasia	Micromelia, Micrognathia, Polyhydramnios, Multiple prenatal fractures, Patchy variation in bone m...	OMIM:215140
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla...	OMIM:613091
Chromosome 9P Deletion Syndrome	Short neck, Micrognathia, Atrial septal defect, Long toe, Anteverted nares, Depressed nasal bridg...	OMIM:158170
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Sotos Syndrome	Accelerated skeletal maturation, Otitis media, Conductive hearing impairment, Atrial septal defec...	OMIM:117550
Congenital Disorder Of Glycosylation, Type Ih	Decreased fetal movement, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal...	OMIM:608104
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Truncus arteriosus, Short stature, Underdeveloped nasal alae	OMIM:611867
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Ventricular septal defect, Premature birth, Abnormality of t...	ORPHA:1708
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ...	OMIM:119800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo...	ORPHA:371428
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Short stature, Choanal atresia, Pectus excavatum, Muscular ventricular septal defect, ...	OMIM:619227
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac...	OMIM:156530
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Premature birth, Delayed skeletal maturation, Abnormality of th...	ORPHA:3268
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Short palm, Clinodactyly of the 5th finger, Megalocornea, Abnormal v...	ORPHA:915
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, D...	OMIM:134780
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Mitral stenosis, Ventricular...	ORPHA:2008
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Short stature, Ventricular septal defect, Broad hallux, Sandal gap, Secundum at...	OMIM:600987
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus def...	OMIM:256520
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis, Prominent fingertip pads, Wide nasal ridge, Prominent nose,...	ORPHA:251061
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, F...	OMIM:312150
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co...	OMIM:150250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Absent frontal sinuses, Hemivertebrae, Anteverted nares, Depressed nasal bridge, Tapered finger, ...	OMIM:301040
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Double Outlet Right Ventricle	Tachycardia, Short stature, Ventricular septal defect, Depressed nasal bridge, Abnormality of car...	ORPHA:3426
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Short stat...	OMIM:613686
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Prominent nose, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:210710
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short stature, Prominent nasal bridge, Ant...	ORPHA:2332
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Micrognathia, Fetal akinesi...	OMIM:208150
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, F...	OMIM:253290
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ...	ORPHA:1662
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Overlapping toe, Hearing impairment, Long nose, Patent ductus arteriosus, Mu...	ORPHA:363444
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pes planus, Decreased fetal movement, Short stature, Rocker bottom foot, Polyhydramnios, Microgna...	OMIM:620070
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Atr...	ORPHA:96148
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Abnormal left ventricular function, Pulmonary artery atresia, Short stature, Post...	OMIM:301056
Lateral Meningocele Syndrome	Decreased muscle mass, Bicuspid aortic valve, Short neck, Micrognathia, Conductive hearing impair...	OMIM:130720
Microphthalmia, Syndromic 9	Diaphragmatic eventration, Severe short stature, Short stature, Ventricular septal defect, Congen...	OMIM:601186
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Prominent nose, Short neck, Micrognathia, Protruding ear, Atrial septal de...	OMIM:612474
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger cl...	ORPHA:508488
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Micrognathia, Patent ductus arteriosus, Macrotia, Wide nasal bridge, 2-3 toe sy...	ORPHA:3304
Eng-Strom Syndrome	Ventricular septal defect, Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, A...	ORPHA:1937
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Houge-Janssens Syndrome 3	Broad nasal tip, Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia, Mega...	OMIM:618354
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Abnormal aortic arc...	ORPHA:96334
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Foot oligoda...	OMIM:616589
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Cataract, Ventricular septal defect, Rhiz...	ORPHA:93267
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect...	OMIM:249420
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Decreased/absent ankle reflexes, Atrial septal defect, Patent foramen oval...	ORPHA:477817
Cleft-Limb-Heart Malformation Syndrome	Syndactyly, Truncus arteriosus	OMIM:215850
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Polyhydramnios, Prominent nose, Micrognathia, Flexi...	OMIM:180849
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Postnatal growth retardation, Short 5th finger, Polydactyly, Small plac...	ORPHA:397590
Atelosteogenesis, Type I	Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narr...	OMIM:108720
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, Positional foot deformity, Prominent fingertip pads, Atri...	OMIM:610443
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont...	OMIM:277300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retardation, Large p...	ORPHA:254534
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, Protruding ...	ORPHA:93315
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,...	ORPHA:2635
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Polyhydramnios, Abnormal bone ossification, Clinodacty...	ORPHA:79324
Desbuquois Syndrome	Genu recurvatum, Short neck, Accelerated skeletal maturation, Coxa vara, Clinodactyly of the 5th ...	ORPHA:1425
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pr...	ORPHA:1120
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Atria...	OMIM:618870
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Diaphanospondylodysostosis	Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Ab...	ORPHA:66637
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, S...	OMIM:300855
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Sandal gap, Pro...	ORPHA:90650
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology	OMIM:300438
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypoplastic cer...	ORPHA:79345
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty...	OMIM:119100
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Microcornea, Atrial ...	OMIM:201000
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen...	OMIM:214300
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morphology, Atrial septal defect, ...	ORPHA:567
Birk-Aharoni Syndrome	Micrognathia, Muscular ventricular septal defect, Absent patellar reflexes, Long nasal bridge, He...	OMIM:620071
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Short stature, Anteverted nares, Co...	ORPHA:1488
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Depressed nasal bridge, Broad nasal tip, Short neck, Kyphosis, Patent ductus arter...	OMIM:618223
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Omodysplasia 1	Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, D...	OMIM:258315
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Depressed nasal bridge, Anteverted nares, Diastasis recti, Overlapping to...	ORPHA:254528
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia...	OMIM:620076
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Disproportionate...	OMIM:122600
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocation, Developmenta...	OMIM:618651
16P13.11 Microduplication Syndrome	Pes planus, Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarct...	ORPHA:261243
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort...	OMIM:617478
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus...	ORPHA:1972
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Short sta...	OMIM:139210
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ...	ORPHA:628
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Abno...	ORPHA:1445
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Depressed nasal ridge, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling...	OMIM:118651
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Short stature, Broad nasal tip, Bifid distal phalanx of the thumb, Triangular shap...	ORPHA:370010
Stuve-Wiedemann Syndrome 1	Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin...	OMIM:601559
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Short stature, Ventricular septal defect, Tapered finger, Patent ductus arteriosus...	OMIM:617159
Charge Syndrome	Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, A...	ORPHA:138
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan...	ORPHA:87
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Anteverted nares, Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum ...	ORPHA:1797
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Muscular ventricular septal defect, Adducted thumb, Low-set ears, Brachydactyly	OMIM:620062
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Wide nose, Overlapping fingers, Short stature, Short neck, Secundum atri...	OMIM:608779
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ...	OMIM:171480
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Increased mitochondrial number, ST segment elevation, Ventricular tachyc...	ORPHA:263297
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Short neck, Micro...	ORPHA:93298
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri...	OMIM:306955
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, C...	ORPHA:1826
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Micrognathia, Joint st...	ORPHA:1166
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Cardiomegaly, Short neck, Micrognathia, Multiple prenatal fractures, ...	OMIM:616897
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Micrognathia, Bulb...	OMIM:616549
Basal Cell Nevus Syndrome 1	Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebr...	OMIM:109400
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Mullegama-Klein-Martinez Syndrome	Pes planus, Short stature, Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nos...	OMIM:301022
Acro-Renal-Ocular Syndrome	Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb, Chorioretinal coloboma...	ORPHA:959
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, Microretrognat...	OMIM:278250
Alagille Syndrome	Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Abnormal form of the verte...	ORPHA:52
Frontonasal Dysplasia 1	Cataract, Broad nasal tip, Bifid nasal tip, Conductive hearing impairment, Postaxial hand polydac...	OMIM:136760
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Micrognathia, Hemivertebrae,...	OMIM:213980
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri...	ORPHA:1988
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Enlarged ...	ORPHA:251071
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abnormal sacrum morph...	ORPHA:1926
Down Syndrome	Prenatal double bubble sign, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventr...	OMIM:190685
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Osteopenia, Short stature, Partial anosmia, Anomalous origin of left corona...	ORPHA:2326
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Cataract, Ventricular septal defect, Recurrent fractures, Micr...	ORPHA:2772
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Yuan-Harel-Lupski Syndrome	Joint laxity, Pes planus, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap...	OMIM:616652
Microphthalmia, Syndromic 3	Vertebral fusion, Cataract, Ventricular septal defect, Short stature, Sclerocornea, Missing ribs,...	OMIM:206900
Fetal Trimethadione Syndrome	Ventricular septal defect, Depressed nasal bridge, Micrognathia, Overfolded helix, Transposition ...	ORPHA:1913
Koolen-De Vries Syndrome	Vertebral fusion, Cataract, Bicuspid aortic valve, Short stature, Prominent nasal bridge, Underde...	ORPHA:96169
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Polyhydramnios, Abnormal pinna mor...	OMIM:607143
Noonan Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Short stature, Abnormal pulmonary ...	ORPHA:648
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Femoral bowing, Stillbirth, Aortic valve stenosis, Ta...	OMIM:615415
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee ...	OMIM:305620
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Short neck, Postnatal growth retardatio...	ORPHA:254519
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Atrial septal de...	OMIM:300166
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet...	OMIM:618164
Robinow Syndrome	Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short st...	ORPHA:97360
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Gorlin Syndrome	Vertebral fusion, Cataract, Arachnodactyly, Plantar pits, Hemivertebrae, Wide nasal bridge, Verte...	ORPHA:377
Shashi-Pena Syndrome	Short metacarpal, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Broad nasal tip, Ce...	OMIM:617190
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, Pectus car...	OMIM:121050
Cantú Syndrome	Cardiomegaly, Short neck, Accelerated skeletal maturation, Narrow chest, Broad ribs, Finger synda...	ORPHA:1517
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Flexion contracture, Prematu...	OMIM:275210
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin...	ORPHA:93351
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Depressed nasal bridge, Lower extremity joint dislocation, Patent ductus ar...	ORPHA:163956
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of th...	OMIM:244600
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Micrognathia, Bifid distal phalanx of the thumb, Cli...	ORPHA:2209
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti...	ORPHA:1801
Slc35A2-Cdg	Thickened nuchal skin fold, Osteopenia, Short stature, Limb joint contracture, Camptodactyly of f...	ORPHA:356961
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Achondrogenesis Type 1A	Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Anteverted nares, Recur...	ORPHA:93299
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Split hand, Wide ...	OMIM:618569
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Weill-Marchesani Syndrome 2	Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype...	OMIM:608328
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Short stature, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm,...	OMIM:619657
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, ...	ORPHA:582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A...	OMIM:607155
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia	OMIM:618254
Feingold Syndrome Type 1	Toe syndactyly, Short stature, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd ...	ORPHA:391641
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta...	OMIM:610017
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Cardiomegaly, Short neck, Micrognathia, Fetal akinesia sequence, ...	OMIM:617022
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv...	OMIM:156550
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic...	ORPHA:99094
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Peroxisome Biogenesis Disorder 12A (Zellweger)	Decreased fetal movement, Short stature, Delayed closure of the anterior fontanelle, Prominent no...	OMIM:614886
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, P...	ORPHA:2522
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Short neck, Micrognathia, Absent thumb, Short tibia, Humeroradial synostos...	OMIM:251230
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Trisomy 13	Cataract, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydacty...	ORPHA:3378
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio...	ORPHA:175
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr...	ORPHA:666
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Ververi-Brady Syndrome	Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose, Delayed skeletal maturat...	OMIM:617982
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Sacral dimple, Ventricular septal defect, Short stature, Depressed nasal bridge, Broad...	OMIM:619995
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Short stature, Elb...	ORPHA:2916
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Fetal ascites, Prominent n...	OMIM:619503
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Cyclopia, Micrognathia, Patent ductus arteriosus, Vertebral clefting, ...	OMIM:301043
3C Syndrome	Short neck, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology, Chorioretinal colob...	ORPHA:7
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Ocular anterior segment dysgene...	OMIM:612582
Duane Retraction Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Central heterochromia, Short neck, Micr...	ORPHA:233
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin...	ORPHA:313892
Kagami-Ogata Syndrome	Long clavicles, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Kyphoscolios...	OMIM:608149
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios...	OMIM:612562
3M Syndrome	Congenital hip dislocation, Abnormal cerebral vascular morphology, Short neck, Micromelia, Increa...	ORPHA:2616
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairm...	ORPHA:2790
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Ventricular septal defect, ...	ORPHA:1458
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi...	OMIM:203500
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape	OMIM:610773
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Cardiac Valvular Dysplasia 1	Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ...	OMIM:212093
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph...	OMIM:300232
Hadziselimovic Syndrome	Ventricular hypertrophy, Short stature, Ventricular septal defect, Anteverted nares, Prominent na...	OMIM:612946
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Delayed skeletal maturation, Abnormal rib m...	ORPHA:2475
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Polyhydramnios, Narrow chest, Neonatal short-limb short stature, Severe l...	OMIM:151210
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Diaphragmatic eventration, Muscular ventricular septal defect, Dilated car...	ORPHA:66634
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Pol...	ORPHA:373
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Pectus ...	OMIM:618624
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Nasal polyposis, Situs inversus totalis, Clu...	ORPHA:244
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Short neck, Bowing of the legs, Abnormal hand...	OMIM:200600
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Mesomelic Dysplasia, Kantaputra Type	Short stature, Talipes, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, A...	ORPHA:1836
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Chorioretinal coloboma, Clinodactyly of the 5th fi...	OMIM:280000
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Anterior creases of ea...	ORPHA:1727
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Postnatal growth reta...	ORPHA:83617
3Q29 Microdeletion Syndrome	Cataract, Prominent nasal bridge, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Pec...	ORPHA:65286
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica...	ORPHA:3456
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptod...	ORPHA:1106
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Hearing impairment, Microgna...	ORPHA:1724
Kapur-Toriello Syndrome	Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Cataract, Short neck, Sh...	OMIM:244300
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinat...	OMIM:619910
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert...	ORPHA:958
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus...	ORPHA:2970
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal ...	OMIM:617925
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasal ridge, Metaphys...	OMIM:300863
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa...	OMIM:118100
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle...	OMIM:309620
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor...	OMIM:617137
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Short stature,...	OMIM:151200
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Wide nose, Ventricular septal defect, Short stature, Anteverted nares, Poly...	OMIM:222470
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Short neck, Absent thumb, Short thumb, Short 1st metaca...	OMIM:609053
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Prominent nasal bridge, Short stature, Choanal atresia, Short neck, Pe...	ORPHA:52055
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect,...	OMIM:194190
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Recurrent frac...	OMIM:166210
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis...	OMIM:253220
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormal morphology of the radius, Aplastic clavicle, Abnormalit...	ORPHA:2538
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Micrognathia, Iris coloboma, Syndactyly, Patent ductus arter...	OMIM:249000
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ...	OMIM:184460
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un...	OMIM:616300
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Cataract, Anteverted nares, Rhizomelia, Depressed nasal bridge, Microg...	OMIM:222765
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def...	OMIM:270100
Weill-Marchesani Syndrome 1	Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Short stature, Depressed nasal bridge, Paten...	OMIM:277600
Craniodiaphyseal Dysplasia	Depressed nasal bridge, Short stature, Abnormal rib morphology, Wide nasal bridge, Conductive hea...	ORPHA:1513
Mitochondrial Complex I Deficiency, Nuclear Type 29	Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop...	OMIM:618250
Digeorge Syndrome	Pilonidal sinus, Posterior embryotoxon, Short stature, Ventricular septal defect, Sclerocornea, M...	OMIM:188400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Broad hallux phalanx, Toe syndactyly, Short stature, Micrognathia, Short nec...	ORPHA:3082
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Prominent nasal bri...	ORPHA:1703
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Micrognathia, Generalized joint ...	OMIM:619472
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated ears, Tapered...	OMIM:613870
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Polyhydramnios, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing mo...	ORPHA:1427
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral...	OMIM:617992
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Short stature, Overlapping toe, Posteriorly rotated ears, Micrognathia, Promine...	OMIM:201170
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Prominent nasal...	OMIM:617796
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Choanal atresia, Polyhydramnios, Missing ribs, Premature birth, Posteriorly rotat...	ORPHA:2759
Waardenburg Syndrome, Type 2E	Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, B...	OMIM:611584
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Juberg-Hayward Syndrome	Wide nose, Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal ...	ORPHA:2319
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of a...	ORPHA:280195
Thakker-Donnai Syndrome	Anteverted nares, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Posteri...	ORPHA:1780
Limb Body Wall Complex	Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia...	ORPHA:2369
Kbg Syndrome	Vertebral fusion, Syndactyly, Anteverted nares, Short stature, Prominent nasal bridge, Short neck...	OMIM:148050
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Prominent nose, Bulbous nose, Hemivertebrae...	ORPHA:2180
Melnick-Needles Syndrome	Bowing of the long bones, Short stature, Delayed cranial suture closure, Hearing impairment, Micr...	ORPHA:2484
Renpenning Syndrome	Skeletal muscle atrophy, Severe short stature, Cataract, Prominent nose, Abnormal thumb morpholog...	ORPHA:3242
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Tracheobronchomalacia, Protruding ear, Atr...	OMIM:613458
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Short stature, Recurrent fractures, P...	ORPHA:1486
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint ...	ORPHA:583
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Short stature, Short neck, Short middle phalanx of the 2nd finger, Promi...	OMIM:617926
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Short neck, Bulbous nose, Macroglossia, Coloboma, Transposition of the gr...	OMIM:616789
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Tibial Hemimelia	Absent tibia	OMIM:275220
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydact...	OMIM:263520
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Catel-Manzke Syndrome	Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Jo...	OMIM:616145
Cenani-Lenz Syndrome	Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Synostosis ...	ORPHA:3258
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Recurrent pharyngitis, Vertigo, V...	ORPHA:397
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e...	ORPHA:1908
Grange Syndrome	Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s...	ORPHA:79094
Mucopolysaccharidosis, Type X	Aortic regurgitation, Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, H...	OMIM:619698
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy, Decreased mitochondrial number	ORPHA:352447
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges o...	ORPHA:2990
Mosaic Trisomy 9	Micromelia, Short neck, Micrognathia, Polyhydramnios, Hemivertebrae, Hydrops fetalis, Finger clin...	ORPHA:99776
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delay...	OMIM:271640
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost...	ORPHA:2756
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi...	OMIM:612447
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Chops Syndrome	Cataract, Short stature, Ventricular septal defect, Anteverted nares, Thickened helices, Hearing ...	OMIM:616368
Orofaciodigital Syndrome Viii	Syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia	OMIM:300484
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Prominen...	ORPHA:2962
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val...	ORPHA:1507
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion	ORPHA:91130
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Conducti...	OMIM:611209
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Muscular Dystrophy, Congenital, Megaconial Type	Mitochondrial hypertrophy, Dilated cardiomyopathy	OMIM:602541
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Wide nasal bridge, Growth delay, Talipes equinovarus, Low-set ears, Camptodactyly,...	OMIM:617333
Recombinant 8 Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Mic...	ORPHA:96167
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca...	OMIM:182212
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo...	ORPHA:93473
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus...	OMIM:259440
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa...	OMIM:186500
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Severe short stature, Abnormal heart valve morphology, Thickened rib...	OMIM:230500
Leopard Syndrome 3	Short stature, Depressed nasal bridge, Posteriorly rotated ears, Short neck, Delayed skeletal mat...	OMIM:613707
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Short neck, Tapered finger, Mult...	OMIM:618395
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short statu...	OMIM:227330
Doors Syndrome	Abnormal placental membrane morphology, Polyhydramnios, Hemivertebrae, Abnormal finger morphology...	ORPHA:79500
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba...	OMIM:252900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab...	ORPHA:163966
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Kapur-Toriello Syndrome	Ventricular septal defect, Posteriorly rotated ears, Short neck, Bulbous nose, Patent ductus arte...	ORPHA:2328
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Trisomy 1Q	Microretrognathia, Wide nose, Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, ...	ORPHA:261344
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnorma...	ORPHA:2145
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Micrognathia, Polyhydramnios, Coxa vara, Sprenge...	ORPHA:800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neo...	ORPHA:50945
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,...	ORPHA:2097
Mungan Syndrome	Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears, Chronic o...	ORPHA:276422
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metap...	OMIM:614524
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Three M Syndrome 2	Prominent nasal tip, Scapular winging, Severe short stature, Anteverted nares, Short stature, Dep...	OMIM:612921
Mosaic Trisomy 8	Short neck, Micrognathia, Protruding ear, Vertebral segmentation defect, Narrow chest, Clinodacty...	ORPHA:96061
Mesomelic Dysplasia, Savarirayan Type	Short stature, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Abnormal foot mo...	OMIM:605274
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ...	OMIM:192350
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r...	OMIM:314390
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w...	OMIM:210720
German Syndrome	Depressed nasal bridge, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Hearing...	ORPHA:2077
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Ventricular septal defect, Prominent nasal bridge, Short stature, Choan...	OMIM:300472
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Broad nasal tip, Micrognathia, Fused cervical vertebrae, Hip d...	ORPHA:530983
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neo...	OMIM:269860
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Postnatal growth retardation, Patent ductu...	ORPHA:2306
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent du...	OMIM:601005
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Short neck, ...	ORPHA:2347
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Ventricular septal defect, Sclerocornea, Patent ductus arteriosus, Hemivertebra...	ORPHA:77298
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, W...	OMIM:617952
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Short stature, Depressed nasal bridge, Short neck, Campto...	ORPHA:2021
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Micrognathia, Short thumb, Pa...	OMIM:612561
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Iris...	OMIM:102500
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Generalized joint laxity...	OMIM:600373
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clino...	OMIM:260660
Weiss-Kruszka Syndrome	Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prox...	OMIM:618619
Fumarase Deficiency	Bilateral fetal pyelectasis, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Conjunctiv...	OMIM:606812
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,...	ORPHA:1452
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of t...	OMIM:300373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Conductive hearing impairment, Patent foramen ovale, Abnormal vertebral morphology,...	ORPHA:444077
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargement, Rib osteolys...	OMIM:614008
Hyperparathyroidism, Transient Neonatal	Osteopenia, Polyhydramnios, Femoral bowing, Narrow chest, Depressed nasal bridge, Anteverted nare...	OMIM:618188
Noonan Syndrome 2	Polyhydramnios, Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, Atrial s...	OMIM:605275
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Polyhydramnios, Dela...	OMIM:114290
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Hand polydactyly, Retinal colobo...	OMIM:258865
Caudal Regression Syndrome	Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ...	ORPHA:3027
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Patent ductus arteriosus, Delayed skeletal maturation, Coarctation of aorta, Growth...	OMIM:614857
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Pallister-Hall Syndrome	Hemivertebrae, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly...	OMIM:146510
Alagille Syndrome 1	Long nose, Hemivertebrae, Microcornea, Atrial septal defect, Abnormal anterior chamber morphology...	OMIM:118450
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho...	OMIM:615578
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Intrauterine growt...	ORPHA:195
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ...	OMIM:268305
Wildervanck Syndrome	Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment	OMIM:314600
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert...	ORPHA:887
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous sy...	OMIM:600920
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln...	OMIM:200980
Aicardi Syndrome	Cataract, Anteverted nares, Block vertebrae, Spina bifida, Proximal placement of thumb, Postnatal...	OMIM:304050
Tarp Syndrome	Micrognathia, Premature rupture of membranes, Neonatal death, Atrial septal defect, Anteverted na...	OMIM:311900
Trisomy 18	Congenital diaphragmatic hernia, Microcornea, Pointed helix, Atrial septal defect, Iris coloboma,...	ORPHA:3380
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal...	ORPHA:3186
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Long hallux, Broad columella, Iri...	ORPHA:2308
Noonan Syndrome 10	Short stature, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, Pectus exca...	OMIM:616564
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Anteverted nares, Short stature, Vertebral clefting, Hemivertebrae,...	OMIM:614701
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se...	OMIM:259420
Atelosteogenesis Type Iii	Polyhydramnios, Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Ver...	ORPHA:56305
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal maturation, Pectus carinatu...	OMIM:312870
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p...	OMIM:113650
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased fetal movement, Torticollis, Absent brainstem auditory responses, Portal hypertension, ...	OMIM:609136
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascular sys...	OMIM:603671
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Diaphragmatic eventration, Ventricular septal defect, Aortop...	OMIM:620025
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Short sta...	OMIM:616229
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217085
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po...	OMIM:263750
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Darwin tubercle o...	OMIM:619122
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Short stature, Facial palsy, Prominent nasal bridge, Hyperlordosis, Abno...	ORPHA:3068
Pseudotrisomy 13 Syndrome	Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Posteriorly rotated ear...	OMIM:264480
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m...	OMIM:500013
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal ep...	ORPHA:2643
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat gl...	OMIM:224690
Toriello-Carey Syndrome	Short stature, Abnormal pinna morphology, Hearing impairment, Short neck, Postnatal growth retard...	ORPHA:3338
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Micromelia, Postaxial polydactyly,...	OMIM:617895
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrops fetalis, Coarct...	ORPHA:268249
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Symblepharon, Sternocleidomastoid amyotrophy, Broad nasal ...	ORPHA:488434
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop...	ORPHA:217093
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short...	ORPHA:264450
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Atrial septal defect, Pulmonary artery atresia, Thick nasal ala...	OMIM:614609
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion con...	OMIM:271665
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura...	ORPHA:93317
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Clinodactyly, Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Conductive hea...	ORPHA:95699
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu...	OMIM:276820
Monosomy 9Q22.3	Cataract, Rhabdomyosarcoma, Short neck, Accelerated skeletal maturation, Kyphosis, Pectus excavat...	ORPHA:77301
Cat Eye Syndrome	Short stature, Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, ...	OMIM:115470
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hemivertebrae, Anotia, Conductive hearing impairment, Limb...	OMIM:164210
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Narrow chest, T...	OMIM:105650
Microform Holoprosencephaly	Narrow nasal bridge, Anteverted nares, Short stature, Choanal atresia, Midnasal stenosis, Prematu...	ORPHA:280200
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Polyhydramnios, Cardiomegaly, Abnormal retinal artery mor...	ORPHA:51608
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Premature birth, Congenital diaphragmatic hernia, Short n...	ORPHA:1834
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib mor...	ORPHA:2519
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Narrow foot, Tibial bowing, Tarsometa...	OMIM:600383
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Premature birth, Ab...	ORPHA:974
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Pulmonic st...	OMIM:615508
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Prominent nose, Long nose, Kyphosis, Bulbous nose, Missin...	ORPHA:2769
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Abnormal form of...	ORPHA:1788
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Wide nose, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia...	ORPHA:2463
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even...	OMIM:608978
Warsaw Breakage Syndrome	Ventricular septal defect, Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc co...	OMIM:613398
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Short stature, Growth delay, Atrial septal defect, Double outlet right ven...	ORPHA:1667
Velocardiofacial Syndrome	Posterior embryotoxon, Short stature, Ventricular septal defect, Talipes, Underdeveloped nasal al...	OMIM:192430
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Hearing impair...	ORPHA:2578
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat...	ORPHA:1335
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r...	ORPHA:2215
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality...	ORPHA:3035
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polyda...	OMIM:258860
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Conductive hearing impairment, Short stature, Central Y-shaped metac...	OMIM:277170
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Abnormal fo...	ORPHA:280
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Flexion contracture, Atrioventricular bl...	ORPHA:581
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Polyhydra...	ORPHA:818
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Polyhydramnios, Posterior rib fusion...	OMIM:265380
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo...	ORPHA:2167
Aicardi Syndrome	Block vertebrae, Missing ribs, Optic disc coloboma, Small hand, Rib fusion, Protruding ear, Hip d...	ORPHA:50
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Depressed nasal ridge, Abnormal form of the vertebra...	ORPHA:2162
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Polyhydramnios, Short neck, Micrognathia, Flexion contracture, Generalized am...	OMIM:620369
Waardenburg Syndrome, Type 1	Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Myelomening...	OMIM:193500
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Conductive hearing impairment, Clinodac...	OMIM:117650
Hydrocephaly-Low Insertion Umbilicus Syndrome	Wide nose, Long nose, Patent ductus arteriosus, Abnormal thorax morphology, Anomalous pulmonary v...	ORPHA:2184
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Woolly Hair Nevus	Enlarged vestibular aqueduct, Persistent pupillary membrane, Heterochromia iridis, Brachydactyly	ORPHA:79414
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Cataract, Polyhydramnios, M...	ORPHA:3301
Fryns Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Anteverted nares, Corneal opacity,...	ORPHA:2059
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C...	OMIM:151050
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ...	ORPHA:2050
Coffin-Siris Syndrome	Atrial septal defect, Thick nasal alae, Joint laxity, Anteverted nares, Depressed nasal bridge, P...	ORPHA:1465
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Tarp Syndrome	Micrognathia, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ears, Finger synd...	ORPHA:2886
Holoprosencephaly 14	Ventricular septal defect, Anteverted nares, Proboscis, Cyclopia, Aortic valve atresia, Low-set e...	OMIM:619895
Carpenter Syndrome 2	Short neck, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Protrudi...	OMIM:614976
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal ...	ORPHA:73230
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, P...	OMIM:200610
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Atria...	ORPHA:84
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Ar...	ORPHA:83
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activity of mitochondrial compl...	ORPHA:17
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Cataract, Spinal rigidity, Dilated cardiomyopathy, Flexio...	OMIM:253800
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Stiff...	ORPHA:268882
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Short stature...	OMIM:259770
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:2234
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy...	ORPHA:309282
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot mor...	ORPHA:1666
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Low-set, posteriorly rotated ears, Rhizomelia, Kyph...	ORPHA:263508
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Townes-Brocks Syndrome	Triphalangeal thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Atrial septal defect...	ORPHA:857
Chime Syndrome	Ventricular septal defect, Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalange...	ORPHA:3474
Hydrolethalus Syndrome 1	Ventricular septal defect, Abnormal pinna morphology, Polyhydramnios, Micrognathia, Complete atri...	OMIM:236680
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Hallermann-Streiff Syndrome	Micrognathia, Metaphyseal widening, Chorioretinal coloboma, Iris coloboma, Spina bifida, Hyperlor...	OMIM:234100
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, Abnormal tibia morphology, Hydrops fetalis, Protruding ear,...	ORPHA:2879
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Zttk Syndrome	Flexion contracture, Hemivertebrae, Protruding ear, Atrial septal defect, Short stature, Depresse...	OMIM:617140
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu...	ORPHA:2847
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Myhre Syndrome	Brachydactyly, Severe short stature, Cataract, Hearing impairment, Joint stiffness, Abnormal rib ...	ORPHA:2588
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Nonimmune hydrops fetalis, Micrognathia, Kyphosis, Patent ductus arter...	OMIM:153400
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Conductive hearing i...	OMIM:218600
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Co...	ORPHA:2331
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Barrel-shaped chest, Recurrent fractur...	OMIM:610915
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Ge...	OMIM:225500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c...	OMIM:612852
Cerebrocostomandibular Syndrome	Ventricular septal defect, Short stature, Spina bifida, Micrognathia, Tracheomalacia, Kyphosis, M...	ORPHA:1393
Floating-Harbor Syndrome	Enlarged joints, Short neck, Long nose, Humeral pseudarthrosis, Atrial septal defect, Conductive ...	ORPHA:2044
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Varicose veins, Large hands, Ab...	ORPHA:500095
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Anteverted nares, Conotruncal defect, Coarctation of aorta, Growth delay, M...	ORPHA:96147
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Short stature, Hyperopic as...	OMIM:252600
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal pinna morphology, Coarctation of aorta, Abnormal heart morpho...	ORPHA:261183
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Patent ductus arter...	OMIM:617088
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Talipes, Congenital diaphragmatic...	ORPHA:1647
Acromelic Frontonasal Dysplasia	Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Patellar hypoplasia, Bifid nose, Ta...	ORPHA:1827
Alagille Syndrome 2	Posterior embryotoxon, Long nose, Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralog...	OMIM:610205
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Pectus excavatum, Patent du...	ORPHA:1519
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Micrognathi...	OMIM:216340
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe...	OMIM:304150
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardia...	ORPHA:904
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Short stature, Anteverted nares, Hearing impair...	OMIM:619727
1P36 Deletion Syndrome	Depressed nasal ridge, Clinodactyly of the 5th finger, Conductive hearing impairment, Low-set, po...	ORPHA:1606
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Renpenning Syndrome 1	Micrognathia, Narrow foot, Protruding ear, Coloboma, Clinodactyly of the 5th finger, Atrial septa...	OMIM:309500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Tricuspid regurgitation, Short femur, Cardiomegaly, Talipes equinovar...	OMIM:620306
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Prominent interphalangeal joints, Atrial septal defect, Prominen...	OMIM:135900
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, At...	OMIM:268300
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Depressed nasal ridge, Atrial septal defect, Clinodactyly of the 5th finge...	OMIM:607872
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi...	ORPHA:1506
Beckwith-Wiedemann Syndrome	Otosclerosis, Prominent metopic ridge, Premature birth, Diastasis recti, Congenital diaphragmatic...	ORPHA:116
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo...	OMIM:269150
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Abnormal rib morphology, Abnormality of the vertebral column, Conduc...	OMIM:601076
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp...	ORPHA:436
Cranioectodermal Dysplasia 2	Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Narrow chest, Atrial septal defect, Pa...	OMIM:613610
Esophageal Atresia	Ventricular septal defect, Choanal atresia, Polyhydramnios, Laryngotracheomalacia, Abnormality of...	ORPHA:1199
Ulbright-Hodes Syndrome	Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Short metacarpal, Depressed ...	ORPHA:3404
Aspergillosis	Osteomyelitis, Keratitis, Abnormal rib morphology, Intracranial hemorrhage, Abnormal long bone mo...	ORPHA:1163
Pallister-Hall Syndrome	Depressed nasal ridge, Hemivertebrae, Atrial septal defect, Atrioventricular canal defect, Micror...	ORPHA:672
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Radio-Renal Syndrome	Severe short stature, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, Hypoplasia of...	ORPHA:3015
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Split hand, Clubbin...	OMIM:600460
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Choanal stenosis, Broad ri...	ORPHA:798
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard...	OMIM:618280
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Patent foramen ovale,...	OMIM:619127
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, Patent foramen ovale, Simple ear, Joint laxity, Short stature, Ante...	OMIM:619325
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy	OMIM:619518
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo...	ORPHA:3144
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Orofaciodigital Syndrome Type 4	Joint dislocation, Micromelia, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Condu...	ORPHA:2753
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Mckusick-Kaufman Syndrome	Finger syndactyly, Short stature, Ventricular septal defect, Tarsal synostosis, Patent ductus art...	ORPHA:2473
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynosto...	ORPHA:667
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Short stature, Sudden cardiac death, Spina bifida, S...	ORPHA:991
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal defect, 2-4 finger s...	OMIM:107480
Fryns Syndrome	Proximal placement of thumb, Short neck, Polyhydramnios, Prominent fingertip pads, Atrial septal ...	OMIM:229850
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling	OMIM:615595
Phace Syndrome	Cataract, Cerebral arteriovenous malformation, Sclerocornea, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Pyknoachondrogenesis	Abnormal intramembranous ossification, Micromelia, Short iliac bones, Horizontal ribs, Short thor...	ORPHA:3003
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Congenital Tracheomalacia	Ventricular septal defect, Premature birth, Tracheomalacia, Cardiomegaly, Patent ductus arteriosu...	ORPHA:95430
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Congenital diaphragmatic h...	ORPHA:261112
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Elsahy-Waters Syndrome	Wide nose, Brachydactyly, Anteverted nares, Cataract, Posteriorly rotated ears, Bifid nasal tip, ...	OMIM:211380
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Short stature, Sclerocornea, Patent ductus arteriosus, Double inlet left ve...	OMIM:619869
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Underdeveloped nasal alae, ...	ORPHA:306542
Kleefstra Syndrome 1	Anteverted nares, Abnormal pinna morphology, Hearing impairment, Conotruncal defect, Macroglossia...	OMIM:610253
Ear-Patella-Short Stature Syndrome	Micrognathia, Anotia, Clinodactyly of the 5th finger, Microtia, third degree, Aplastic clavicle, ...	ORPHA:2554
Oculocerebrorenal Syndrome Of Lowe	Micrognathia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Chronic otitis media, Low-s...	ORPHA:534
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Joint stiffness, Split hand, Ab...	ORPHA:1300
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery...	OMIM:100300
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Uplifted earlobe, Abnormal pupil morphology, Flexion contracture, Calcaneo...	ORPHA:261552
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencephaly, Transposition of the grea...	OMIM:313850
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Conotruncal defect, Micrognathia	OMIM:243440
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Sensorineural hearing impairment, Bone pain, Rickets, Reduced bone m...	ORPHA:18
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat...	OMIM:601992
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Short stature, Camptodactyly of finger, Abnormal r...	ORPHA:2907
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Kindler Epidermolysis Bullosa	Finger syndactyly, Corneal opacity, Camptodactyly of finger, Flexion contracture, Abnormal rib mo...	ORPHA:2908
Intellectual Developmental Disorder, Autosomal Dominant 34	Anteverted nares, 2-3 toe syndactyly, Oligohydramnios, Short foot, Hearing impairment	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.

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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

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Gene: Cert1 MGI:1915268

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Eye Morphology

X-ray

Anti-nuclear antibody assay

DSS Histology

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Cert1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data