Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Cert1tm1a(KOMP)Wtsi HET Early adult 4.32×10-06
preweaning lethality, incomplete penetrance Cert1tm1a(KOMP)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

View all 89 images

Human diseases caused by Cert1 mutations

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

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Pectus excavatum, Short 5th metacarpal, Short stature, Perimembran... OMIM:617877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... ORPHA:2516
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Sandestig-Stefanova Syndrome
Developmental cataract, Convex nasal ridge, Intrauterine growth retardation, Rocker bottom foot, ... OMIM:618804
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Overfolded helix, Short nose, P... OMIM:609945
Emanuel Syndrome
Truncus arteriosus, Patent ductus arteriosus, Hearing impairment, Low hanging columella, Cerebral... OMIM:609029
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Intrauterine growth retardation,... OMIM:220210
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Patent ductus arteriosus, Hearing impairment, Postnatal growth ret... OMIM:179613
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Short stature, Retinal coloboma, P... ORPHA:508498
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Vertebral fusion, Talipes equinovarus, Short long bone, Double outlet righ... OMIM:618845
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Short nose, Dislocated ... ORPHA:401935
Emanuel Syndrome
Truncus arteriosus, Patent ductus arteriosus, Hearing impairment, Low hanging columella, Cerebral... ORPHA:96170
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal form of the vertebral bodie... ORPHA:1354
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormalit... ORPHA:2378
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Abnormality of the odontoid process, Myelomeningocele, Hemivertebrae, Vertebral fus... OMIM:613686
Charge Syndrome
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Retinal coloboma, Decreased response t... OMIM:214800
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Long fingers, W... OMIM:618316
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Abnormality of th... OMIM:618164
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Short stature, Growth delay, Short nose, Wide nasal bridge, Clin... OMIM:615583
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ... OMIM:618378
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Talipes equinovarus, Short nose, Absent frontal sinuses, Postnatal growth retardation, Cerebral a... OMIM:301040
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Short ... OMIM:601355
Placental Insufficiency
Eclampsia, Intrauterine growth retardation, Preeclampsia, Abnormal heart morphology, Maternal hyp... ORPHA:439167
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Micrognathia, Truncus arteriosus, Neonatal death, Abnormality of the p... OMIM:228940
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Micrognathia, Intrauterine growth retardation, Severe pos... ORPHA:73272
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Ventricular septal defect, Abnormal sacrum morphology, Abnor... ORPHA:2345
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Absent tibia, Depressed nasal bridge, Talipes equinovarus, Short stature, Mi... OMIM:119800
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Talipes equinovarus, Short stature, Short ribs, Femoral bowing, Short long bone, Po... OMIM:613091
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Phaver Syndrome
Broad hallux phalanx, Triphalangeal thumb, Overfolded helix, Abnormal form of the vertebral bodie... ORPHA:2876
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Short stature, Pes planus, Camptodactyly of finger, Choanal atresia, Toe synd... ORPHA:261330
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Synostosis of joints, Brachydactyly, Vascul... ORPHA:198
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Short stature, Wide nose, Fused cervical vertebrae, Spreng... OMIM:619227
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Short stature, Pectus carinatum, Premature birth, Finger syndactyly, Ab... ORPHA:3268
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Prominent nose, Micrognathia, Vertebral fusion, Macrotia, Supernumerary ribs, Verte... OMIM:221950
Acrocardiofacial Syndrome
Hallux valgus, Ventricular septal defect, Toe syndactyly, Truncus arteriosus, Intrauterine growth... ORPHA:2008
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Femoral-Facial Syndrome
Truncus arteriosus, Talipes equinovarus, Short stature, Hypoplastic acetabulae, Short nose, Short... OMIM:134780
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Intrauterine growth retardation, Truncus arteriosus, Short stature OMIM:611867
Scimitar Syndrome
Abnormality of the vertebral column, Left-to-right shunt, Truncus arteriosus, Mitral atresia, Sin... ORPHA:185
Mosaic Trisomy 16
Patent ductus arteriosus, Hearing impairment, Short forearm, Abnormality of the nose, Syndactyly,... ORPHA:1708
Neu-Laxova Syndrome 1
Joint contracture of the hand, Small placenta, Patent ductus arteriosus, Finger syndactyly, Ptery... OMIM:256520
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Abnormal form of the vertebral bodies, Iris coloboma, Pterygium, Sclerotic... ORPHA:371428
Aarskog-Scott Syndrome
Short stature, Pes planus, Genu recurvatum, Finger syndactyly, Megalocornea, Camptodactyly of fin... ORPHA:915
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Congestive heart... OMIM:302060
Stankiewicz-Isidor Syndrome
Prominent nose, Ventricular septal defect, 2-3 toe syndactyly, Truncus arteriosus, Micrognathia, ... OMIM:617516
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Dysplastic corpus callosum, Long nose, Abnormal heart morphology, Perimembra... ORPHA:363444
Kbg Syndrome
Underdeveloped nasal alae, Vertebral fusion, Cutaneous syndactyly, Short stature, Macrotia, Conge... ORPHA:2332
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Patent ductus arteriosus, Fing... ORPHA:392
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Distal Monosomy 10Q
Short stature, Short metatarsal, Pes valgus, Short nose, Pes planus, Patent ductus arteriosus, Po... ORPHA:96148
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Depressed nasal bridge, Short stature, Double outl... ORPHA:3426
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... OMIM:618782
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Vertebral fusion, Fetal aki... OMIM:312150
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Talipes equinovarus, Short stature, Hearing impairment, Low-set ears, Abnormal left ventricular f... OMIM:301056
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Micrognathia, Abnormality of epiphysis morphology, Bowing of the long ... ORPHA:93267
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Absent tibia, Patellar aplasia, Triphalangeal thumb, Fibular duplicati... OMIM:135750
Lateral Meningocele Syndrome
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Low-set ears, Umbilical hernia, M... OMIM:130720
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Vertebral... OMIM:113000
Multiple Pterygium Syndrome, Lethal Type
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Vertebral fusion, Fetal aki... OMIM:253290
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Microphthalmia, Syndromic 3
Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short stature, H... OMIM:206900
Restrictive Dermopathy
Small placenta, Patent ductus arteriosus, Aplasia/Hypoplasia involving the nose, Camptodactyly of... ORPHA:1662
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Broad nasal tip, Depressed nasal bridge, Hemivertebrae, Short stature, Double outlet right ventri... OMIM:618223
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, 2-3 toe syndactyly, Micrognathia, Persistent left superior vena cava, Doub... ORPHA:3304
Eng-Strom Syndrome
Ventricular septal defect, Pectus excavatum, Intrauterine growth retardation, Short stature, Arth... ORPHA:1937
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Short stature, Epiphyseal stippling, Prominent calcaneus, Short ribs, Dia... ORPHA:96334
Alg12-Cdg
Talipes equinovarus, Proximal placement of thumb, Patent ductus arteriosus, Camptodactyly, Short ... ORPHA:79324
Fetal Akinesia Deformation Sequence 1
Talipes equinovarus, Generalized amyotrophy, Small placenta, Camptodactyly of finger, Abnormality... OMIM:208150
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Right aortic arch, Transp... OMIM:231060
Kniest Dysplasia
Aplasia/hypoplasia of the extremities, Short thorax, Hearing impairment, Short long bone, Depress... ORPHA:485
Frank-Ter Haar Syndrome
Buphthalmos, Talipes equinovarus, Megalocornea, Camptodactyly, Anteverted nares, Delayed cranial ... OMIM:249420
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Rhizomelia, Wide nose, Abnormality of the pinna, Short ... OMIM:607143
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Micrognathia, Short statu... OMIM:601186
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... ORPHA:99095
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Genu recurvatum, Camptodactyly of finger, A... ORPHA:1425
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Short stature, Pes planus, Patent ductus arterios... OMIM:618870
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation, Syndactyly, Foot oligodac... OMIM:616589
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Short nose,... OMIM:601559
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Micromelia, Depressed nasal bridge, Abnorma... ORPHA:2635
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Short stature, Hearing impairment, Camptodactyly, Elbow flexion contracture, Ver... OMIM:178110
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Silver-Russell Syndrome Due To A Point Mutation
Micrognathia, Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Syn... ORPHA:397590
Halperin-Birk Syndrome
Micrognathia, Developmental cataract, Intrauterine growth retardation, Agenesis of corpus callosu... OMIM:618651
Carpenter Syndrome 1
Genu varum, Short stature, Joint contracture of the hand, Patent ductus arteriosus, Deviation of ... OMIM:201000
Slc35A2-Cdg
Talipes equinovarus, Short stature, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:356961
Koolen-De Vries Syndrome
Bicuspid aortic valve, Anteverted ears, Short stature, Aortic root aneurysm, Overfolded helix, Pa... OMIM:610443
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Abnormal foot morphology, 2-3 toe syndactyly, Talipes equinovarus, Pes val... ORPHA:477817
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Talipes equinovarus, Situs inversus totalis, Sti... OMIM:615415
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Underfolded helix, Genu varum, Upper limb undergrowth, Short stature, Metaphys... ORPHA:93315
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Otopalatodigital Syndrome Type 1
Short hallux, Depressed nasal bridge, Hypoplastic frontal sinuses, Abnormal vertebral segmentatio... ORPHA:90650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Ventricular septal defect, Abnormal heart morphology, Coat hanger sign of ri... ORPHA:254534
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal irregularity, Brachydactyly, Osteoporotic tarsals, Flat acetabular roof... OMIM:609052
Omodysplasia 1
Limited elbow flexion, Short nose, Increased fibular diameter, Limited elbow extension, Short hum... OMIM:258315
Diastrophic Dysplasia
Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of... ORPHA:628
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Shoulder girdle... OMIM:606612
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Abnormal form of the vertebral bodies, Sh... ORPHA:2311
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Triphalangeal thumb, Abnormal aortic valve morphology, Atrioventricular ca... ORPHA:1120
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... ORPHA:3384
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Short stature, Chronic otitis media, Ov... ORPHA:567
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Double outlet left ventricle, Aplasia of the left hemidiaphragm, Patent ductu... OMIM:600001
Femoral-Facial Syndrome
Talipes equinovarus, Short stature, Short nose, Aplasia/Hypoplasia of the corpus callosum, Abnorm... ORPHA:1988
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Short stature, Congenital di... ORPHA:1166
Otopalatodigital Syndrome Type 2
Short nose, Hearing impairment, Increased bone mineral density, Camptodactyly of finger, Low-set ... ORPHA:90652
Cooper-Jabs Syndrome
Conductive hearing impairment, Ventricular septal defect, Short stature, Congenital diaphragmatic... ORPHA:1488
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Mic... ORPHA:3320
Autosomal Dominant Spondylocostal Dysostosis
Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, ... ORPHA:1797
Ring Chromosome 21 Syndrome
Short stature, Abnormal heart morphology, Small hand, Clinodactyly, Abnormal thorax morphology, S... ORPHA:1445
Myhre Syndrome
2-3 toe syndactyly, Skeletal muscle hypertrophy, Short stature, Birth length less than 3rd percen... OMIM:139210
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Microcephaly, Vertebral fusion, Short stature OMIM:251250
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Partial agenesis of the corpus callosum, Ventricular septal defect, Trun... OMIM:617478
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short nose, 11 pair... OMIM:108720
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Kbg Syndrome
Underdeveloped nasal alae, Vertebral fusion, Short stature, Macrotia, Radial deviation of finger,... OMIM:148050
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Abnorm... OMIM:214300
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Pectus ex... OMIM:616145
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial aplasia, Finger synd... OMIM:274000
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Radial club hand, Fibular hypoplasia, Patent ductus arteriosus, ... ORPHA:1972
Apert Syndrome
Conductive hearing impairment, Morphological abnormality of the semicircular canal, Cervical C5/C... ORPHA:87
Charge Syndrome
Short stature, Abnormality of bone mineral density, Overfolded helix, Patent ductus arteriosus, H... ORPHA:138
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... ORPHA:1926
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of... ORPHA:370010
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Pectus excavatum, Depressed nasal bridge, Intrauterine growth retardation, M... ORPHA:254528
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... ORPHA:79345
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Myopathy, Micrognathia, Short stature, Cervical C2/C3 vertebral fusion... OMIM:616549
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Basal Cell Nevus Syndrome
Plantar pits, Abnormal sternum morphology, Short ribs, Iris coloboma, Short 4th metacarpal, Calci... OMIM:109400
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, C... ORPHA:263297
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short 5th metacarpal, Dysplastic corpus callosum, Tapered finger, Short 4th... OMIM:618569
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Ventricular septal defect, Intrauterine growth retardation, Low... ORPHA:2772
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Short nose, Pes planus, Patent ductus arteriosus, Proximal p... ORPHA:251071
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Growth delay, Short stature, Delayed closure of the anterior fontanelle, Double o... OMIM:614886
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short... OMIM:118651
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Short toe, Umbilical h... OMIM:615297
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Craniosynostosis, Arachnodacty... ORPHA:261243
Achondrogenesis Type 1B
Disproportionate short stature, Micrognathia, Talipes equinovarus, Short nose, Short thorax, Poly... ORPHA:93298
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Short nose, Multiple prenatal fractures, Short ribs, Anteverted nares, Low-set... OMIM:616897
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Short stature, Phocomelia, Aplasia/Hypoplasia of the thumb, Stenosis of the external ... OMIM:171480
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Intrauterine growth retardation,... ORPHA:1913
Gorlin Syndrome
Plantar pits, Vertebral fusion, Hemivertebrae, Vertebral wedging, Arachnodactyly, Wide nasal brid... ORPHA:377
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Double outlet right ven... ORPHA:2209
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Butterfly vertebrae, Micrognathia, Aplasia of the nose, Septo-optic dy... OMIM:301043
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Fibrochondrogenesis 1
Broad ischia, Short nose, Joint contracture of the hand, Short ribs, Megalocornea, Camptodactyly,... OMIM:228520
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... ORPHA:959
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Koolen-De Vries Syndrome
Bicuspid aortic valve, Short stature, Overfolded helix, Bulbous nose, Aplasia/Hypoplasia of the c... ORPHA:96169
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... ORPHA:66637
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Hearing impairme... ORPHA:163956
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
8Q24.3 Microdeletion Syndrome
Branchial cyst, Truncus arteriosus, Short stature, Asymmetry of the ears, Retinal coloboma, Pes v... ORPHA:508488
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy, Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Lim... OMIM:127300
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly, Periventricular leukomal... OMIM:619170
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, Delayed skeletal mat... ORPHA:52
Microcephaly-Micromelia Syndrome
Micrognathia, Convex nasal ridge, Intrauterine growth retardation, Talipes equinovarus, Oligodact... OMIM:251230
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Anteverted ears, Asymmetry of the ears, Talipes equinovarus, Short stature, P... OMIM:300166
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Growth delay, Short stature, Mitral regurgitatio... ORPHA:2326
Robinow Syndrome, Autosomal Recessive 1
Short stature, Duplication of the distal phalanx of hand, Broad toe, Short nose, Hypoplastic sacr... OMIM:268310
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Low-set, posteriorly rotated ear... ORPHA:1918
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... ORPHA:168549
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Feingold Syndrome Type 1
Interrupted aortic arch, Conductive hearing impairment, 2-3 toe syndactyly, Short middle phalanx ... ORPHA:391641
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Hypertelorism And Tetralogy Of Fallot
Depressed nasal bridge, Talipes equinovarus, Posteriorly rotated ears, Patent ductus arteriosus, ... OMIM:239711
Frontometaphyseal Dysplasia 1
Cor pulmonale, Long phalanx of finger, Partial fusion of carpals, Camptodactyly of finger, Elbow ... OMIM:305620
Frontometaphyseal Dysplasia
Short metatarsal, Pes valgus, Joint contracture of the hand, Hearing impairment, Progressive bowi... ORPHA:1826
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Pectus excavatum, Intrauterine growth retardation, Hemiv... OMIM:608406
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Metaphyseal irregularity, Epiphyseal dysplasia, Hearing impairment, Opaci... OMIM:253200
Osebold-Remondini Syndrome
Abnormality of the vertebral column, Tarsal synostosis, Short stature, Broad finger, Broad toe, F... OMIM:112910
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Noonan Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Micrognathia, Pectus excavatum, Short statu... ORPHA:648
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Distal arthrogryposis, Crumpled ear, Hip contracture, Talipes equinovarus,... OMIM:121050
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy, Fusion of midcervical facet jo... OMIM:606842
Roifman Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Narrow nose, Intrauterine growth retardatio... OMIM:616651
Robinow Syndrome
Short stature, Short nose, Syndactyly, Anteverted nares, Low-set ears, Umbilical hernia, Ventricu... ORPHA:97360
Restrictive Dermopathy 1
Decreased calvarial ossification, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, ... OMIM:275210
Kagami-Ogata Syndrome
Thoracic hypoplasia, Micrognathia, Depressed nasal bridge, Premature birth, Kyphoscoliosis, Coat ... ORPHA:254519
Spondylocarpotarsal Synostosis Syndrome
Capitate-hamate fusion, Talipes equinovarus, Short nose, C2-C3 subluxation, Epiphyseal dysplasia,... OMIM:272460
Frontonasal Dysplasia 1
Conductive hearing impairment, Broad nasal tip, Hypoplastic frontal sinuses, Short columella, Bif... OMIM:136760
Hypertrichotic Osteochondrodysplasia, Cantu Type
Broad hallux phalanx, Patent ductus arteriosus, Finger syndactyly, Delayed skeletal maturation, A... ORPHA:1517
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Pes planus, Hypoplasia of the radius, Iris coloboma, Synda... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Pectus carinatum, Osteo... ORPHA:93351
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short nose, Short toe,... OMIM:613458
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Achondrogenesis Type 1A
Micrognathia, Multiple rib fractures, Short nose, Short thorax, Polyhydramnios, Severe short stat... ORPHA:93299
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Short stature, Mitral re... OMIM:157800
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Ventricular septal defect, Intrauterine growth retardation, Short ... OMIM:609053
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Meckel Syndrome, Type 1
Patent ductus arteriosus, Iris coloboma, Foot polydactyly, Syndactyly, Vascular dilatation, Low-s... OMIM:249000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short stature, Delayed skeletal maturation, Low-set ears, Small epiphyses, Anterior rib cupping, ... OMIM:300232
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Growth delay, Abnormal vertebral segmentation and fusion,... OMIM:244600
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Patent ductus arteriosus, Low hanging columella, Polymicrogyria, Anteverte... ORPHA:500159
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Wide nose, Fing... OMIM:610017
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Convex nasal ridge, Pectus excavatum, Short stature, Abnormal clavicle morphology, ... ORPHA:2522
Hadziselimovic Syndrome
Ventricular septal defect, Short stature, Ventricular hypertrophy, Posteriorly rotated ears, Prom... OMIM:612946
Ververi-Brady Syndrome
Prominent nose, Broad nasal tip, Intrauterine growth retardation, Short stature, Wide nose, Metap... OMIM:617982
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, Underfolded helix, Spinal canal stenosis, 2-3 toe syndactyly, ... OMIM:263540
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Intrauterine growth retardation, Growth delay, Prolonged QT interval, Gen... ORPHA:66634
Weill-Marchesani Syndrome 2
Short stature, Short metatarsal, Patent ductus arteriosus, Delayed skeletal maturation, Aortic va... OMIM:608328
Mucopolysaccharidosis Type 4
Short stature, Short thorax, Reduced bone mineral density, Hearing impairment, Delayed skeletal m... ORPHA:582
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Trisomy 13
Ventricular septal defect, Intrauterine growth retardation, Abnormality of pelvic girdle bone mor... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Vertebral fusion, Macroglossia, Achilles t... OMIM:607155
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Underdeveloped nasal alae, Micrognathia, Long clavicles, Intrauterine growth retardation, Thin ri... ORPHA:83617
Kapur-Toriello Syndrome
Conductive hearing impairment, Ventricular septal defect, Intrauterine growth retardation, Retina... OMIM:244300
Brachydactyly, Type A4
Talipes calcaneovalgus, Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger... OMIM:112800
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Distal Monosomy 15Q
Bicuspid aortic valve, Talipes equinovarus, Short stature, Mitral atresia, Mitral stenosis, Paten... ORPHA:1596
Kniest-Like Dysplasia, Lethal
Talipes equinovarus, Metaphyseal irregularity, Short ribs, Patent ductus arteriosus, Brachydactyl... OMIM:245190
Duane Retraction Syndrome
Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplastic iris strom... ORPHA:233
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Chronic otitis media, Mitral atresia, Pes valgus, Short nose, Subvalvular aortic... OMIM:619503
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... ORPHA:93405
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Broad thumb, Macrotia, Pes pl... ORPHA:329224
Osteogenesis Imperfecta
Progressive hearing impairment, Short stature, Aortic root aneurysm, Abnormal form of the vertebr... ORPHA:666
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Abnormal form of the... ORPHA:175
Digeorge Syndrome
Interrupted aortic arch, Ventricular septal defect, Micrognathia, Truncus arteriosus, Short statu... OMIM:188400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Short stature, Abnormal form of the vertebral bodies, Kyphosis, ... ORPHA:2916
3C Syndrome
Short stature, Short nose, Finger syndactyly, Iris coloboma, Postnatal growth retardation, Hand p... ORPHA:7
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent otitis media OMIM:618254
Codas Syndrome
Ventricular septal defect, Crumpled ear, Depressed nasal bridge, Coronal cleft vertebrae, Short s... ORPHA:1458
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Poland Syndrome
Dextrocardia, Unilateral hypoplasia of pectoralis major muscle, Hemivertebrae, Unilateral brachyd... OMIM:173800
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Abnormal vertebral morphology, Coarctation of aorta, ... ORPHA:280195
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Abnormality of the mitochondrion ORPHA:91130
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short stature, Short humerus, Low-set ears, Short femur, Irregular epiphyses... OMIM:601560
Simpson-Golabi-Behmel Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Talipes equinovarus, Short nose, Finger syn... ORPHA:373
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Pectus excavatum, Short stature, Abnormality of the pinna, Prominent n... ORPHA:52055
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Intimal thickening in the coronary arteries, Hearing imp... OMIM:253010
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... OMIM:609616
Wolf-Hirschhorn Syndrome
Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Iris coloboma, Delayed... OMIM:194190
Microgastria-Limb Reduction Defect Syndrome
Amelia, Abnormal cortical gyration, Arrhinencephaly, Truncus arteriosus, Growth delay, Agenesis o... ORPHA:2538
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Thin ribs, Long ... OMIM:608149
Primary Ciliary Dyskinesia
Conductive hearing impairment, Persistent left superior vena cava, Situs inversus totalis, Abnorm... ORPHA:244
Craniofacial Microsomia
Limbal dermoid, Conductive hearing impairment, Ventricular septal defect, Micrognathia, Hemiverte... OMIM:164210
Multiple Pterygium Syndrome, Escobar Variant
Talipes equinovarus, Short stature, Syndactyly, Low-set ears, Umbilical hernia, Dysplastic patell... OMIM:265000
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Diamond-Blackfan Anemia 7
Ventricular septal defect, Triphalangeal thumb, Intrauterine growth retardation, Growth delay, Re... OMIM:612562
Noonan Syndrome 12
Ventricular septal defect, Spinal canal stenosis, Pectus excavatum, Supravalvular aortic stenosis... OMIM:618624
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Sprengel anomaly, Atrial septal defect, Abn... ORPHA:2475
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Short stature, Talipes, Ulnar deviation of finger,... ORPHA:1836
Tibia, Absence Of, With Congenital Deafness
Absent tibia, Hearing impairment OMIM:275230
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Larsen Syndrome
Talipes equinovarus, Short stature, Short metatarsal, Spatulate thumbs, Bipartite calcaneus, Cond... OMIM:150250
3Q29 Microdeletion Syndrome
Pectus excavatum, Pectus carinatum, Tapered finger, Short nose, Macrotia, Prominent nasal bridge,... ORPHA:65286
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Delayed skeletal maturation, Short hume... OMIM:210710
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Peters anomaly, Patent ductus arteriosus, Opacification of the corneal stroma, Low-set... OMIM:612582
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Micrognathia, Growth d... ORPHA:1727
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Genu varum, Short stature, Short metatarsal, Broad toe, Meta... OMIM:619636
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Short ribs, Short diaphyses, P... OMIM:215140
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Intrauterine growth retardation, Thin ribs, Short stature, Hypoplastic ili... OMIM:300863
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Patent ductus arteriosus... ORPHA:435638
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Abnormal vertebral mor... ORPHA:2319
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Severe short-limb dwarfism, D... OMIM:201250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Absent nasal bridge, Neonatal death, Short ribs, Low-set ears, ... OMIM:617925
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Micrognathia, Tetralogy of Fallot, Hypoplastic right heart, Split foot OMIM:601348
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Limited shoulder movement, Intervertebral disc dege... OMIM:203500
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Lethal Congenital Contracture Syndrome 10
Stiff neck, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Adducted th... OMIM:617022
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Hearing impairment, Opacification of the corneal stroma,... OMIM:253000
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Recurrent otitis m... OMIM:608940
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Ventricular hypertrophy, Short nose, Pulmonary arterial hypertension, Posteriorly ... OMIM:300887
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Chorioretinal coloboma, Iris coloboma, Thoracic scoliosis, Cervi... OMIM:613702
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Pectus carina... ORPHA:313892
Thakker-Donnai Syndrome
Ventricular septal defect, Intrauterine growth retardation, Hemivertebrae, Congenital diaphragmat... ORPHA:1780
Wildervanck Syndrome
Meningocele, Lens subluxation, Congenital sensorineural hearing impairment, Facial palsy, Fused c... ORPHA:3456
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Talipes equin... OMIM:619472
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Retinal coloboma, Posteriorly rotated ears... ORPHA:2328
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Conductive hearing impairment, Hallux valgus, Ectopic ossification in muscle ... OMIM:135100
Weill-Marchesani Syndrome 1
Short stature, Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Depres... OMIM:277600
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Micrognathia, Intrauterine growth retardation, Anencephal... ORPHA:1908
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Finge... ORPHA:1106
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs,... OMIM:250220
Spondylo-Ocular Syndrome
Ventricular septal defect, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the len... ORPHA:85194
Langer Mesomelic Dysplasia
Mesomelic short stature, Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesom... OMIM:249700
Prune Belly Syndrome
Ventricular septal defect, Pectus excavatum, Talipes equinovarus, Congenital hip dislocation, Pat... ORPHA:2970
Waardenburg Syndrome, Type 2E
Blue irides, Pectus excavatum, Morphological abnormality of the vestibule of the inner ear, Ocula... OMIM:611584
Mosaic Trisomy 20
Ventricular septal defect, Limited pronation/supination of forearm, Spinal canal stenosis, Dyspla... ORPHA:1724
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Short long bone, Hydrops fetalis, Ventricular septal defect, Pectus carinatum, Tricus... OMIM:263520
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Short stature, Wide nasal bridge, Fused cervical vertebrae, Thora... OMIM:309620
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Diaphyseal thickening, Depressed nasal bridge, Short stature, Wide... ORPHA:1513
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Mitral regurgi... OMIM:603387
Acro-Renal-Mandibular Syndrome
Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula, Micrognathia, Intrauterine growt... ORPHA:958
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Thoracic hypoplasia, Tibial bowing, Broad long bones, Convex nasal ridge... OMIM:166210
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Fused ce... OMIM:618469
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebr... OMIM:118100
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... OMIM:270100
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Toe syndactyly, Underdeveloped nasal alae, Congenital stapes ankyl... OMIM:184460
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Micrognathia,... ORPHA:3082
Mosaic Trisomy 14
Micrognathia, Lower limb asymmetry, Low-set, posteriorly rotated ears, Prominent nasal bridge, Wi... ORPHA:1703
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Patent ductus arteriosus, Hypoplasia of the radius, Syndactyly, ... OMIM:142900
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Supernumerary ... OMIM:612447
Acrofacial Dysostosis Syndrome Of Rodriguez
Prominent nose, Micrognathia, Triphalangeal thumb, Talipes equinovarus, Oligodactyly, Short statu... OMIM:201170
Acitretin/Etretinate Embryopathy
Conotruncal defect, Micrognathia, Third degree atrioventricular block, Abnormality of the calcane... ORPHA:40366
3M Syndrome
Short stature, Short thorax, Bulbous nose, Delayed skeletal maturation, Anteverted nares, Protrud... ORPHA:2616
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... OMIM:306955
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal antitragus morphology, Premature birth, Overfolded helix, Abnormal form o... ORPHA:2759
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Arrhythmia ORPHA:352447
Renpenning Syndrome
Round ear, Prominent nose, Pectus excavatum, Skeletal muscle atrophy, Growth delay, Macrotia, Sev... ORPHA:3242
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Prominent nose, Depressed nasal bridge, Hemivertebrae, Abnormal form of the vertebral bodies, Wid... ORPHA:2180
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Anteverted nares, Abnormal pelvis bone morphology, Short phalanx of finger,... ORPHA:1427
Mosaic Trisomy 9
Talipes equinovarus, Patent ductus arteriosus, Bulbous nose, Camptodactyly of finger, Low-set ear... ORPHA:99776
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Short stature, Abnormal sacrum morphology, Fused cervical vertebr... ORPHA:1436
De Barsy Syndrome
Talipes equinovarus, Short stature, Patent ductus arteriosus, Postnatal growth retardation, Delay... ORPHA:2962
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Microcephaly, Abnormal rib morphology, Short stature ORPHA:2435
Limb Body Wall Complex
Abnormality of the vertebral column, Cutaneous finger syndactyly, Ectopia cordis, Progressive con... ORPHA:2369
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Anomalous branches of internal ca... ORPHA:363705
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Sensorine... OMIM:617992
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Aicardi Syndrome
Dilated third ventricle, Proximal placement of thumb, Postnatal growth retardation, Polymicrogyri... OMIM:304050
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tapered finger, Short nose, Posteriorly rotated ears, Pa... OMIM:613870
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Hand oligodactyly, Phocomelia, Hypoplasia of the radius, Polymicrogyria, Absent ... OMIM:156810
Pelger-Huet Anomaly
Ventricular septal defect, Upper limb undergrowth, Short 5th metacarpal, Short 3rd metacarpal, Um... OMIM:169400
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Progeroid Facial Appearance With Hand Anomalies
Conductive hearing impairment, Cutaneous finger syndactyly, Prominent nose, Long fingers, Arachno... OMIM:602249
Trichohepatoenteric Syndrome 1
Depressed nasal ridge, Ventricular septal defect, Intrauterine growth retardation, Short stature,... OMIM:222470
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl... OMIM:154400
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Macroglo... OMIM:612938
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Prominent nasal bridge, Patent ductus arteriosus, Peters... OMIM:618652
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Skeletal muscle atrophy, Abnormality of the elbow, Short stature, Amniotic constric... ORPHA:1486
Metaphyseal Acroscyphodysplasia
Genu varum, Short humerus, Short toe, Anteverted nares, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Hip contracture, Talipes equinovarus, Short metatarsal, Patent ductus arte... OMIM:617137
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis OMIM:611376
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shield chest, Tricuspid stenosis, Talipes equinovarus, Short stature, Cubitus valgus, Mitral sten... OMIM:143095
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Talipes equinovarus, Macroglossia, Macrotia, Clinodactyly, Transposition ... OMIM:616789
Doors Syndrome
Arrhinencephaly, Sirenomelia, Triphalangeal thumb, 11 pairs of ribs, Bulbous nose, Polymicrogyria... ORPHA:79500
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormality of the odontoid process, Pectus excavatum, Pectus carinatu... OMIM:609654
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Depressed nasal ridge, Thickened ribs, Intra... OMIM:230500
Mosaic Trisomy 1
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Campt... ORPHA:1692
Achondrogenesis, Type Ia
Short nose, Short ribs, Hypoplasia of the radius, Anteverted nares, Abnormal foot bone ossificati... OMIM:200600
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Abnormality of the pubic bone, Short stature, Bowing of the long b... ORPHA:2484
Asymmetric Short Stature Syndrome
Micrognathia, Convex nasal ridge, Fused cervical vertebrae, Asymmetric short stature, Hemihypotro... OMIM:108450
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Horizontal crus of helix, Colpocephaly, Overfol... OMIM:618619
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Grange Syndrome
Hypertension, Ventricular septal defect, Increased susceptibility to fractures, Aortic regurgitat... ORPHA:79094
Orofaciodigital Syndrome Xvii
Prominent nose, Clubbing of fingers, Polydactyly, Short stature, Hearing impairment, Tetralogy of... OMIM:617926
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology,... ORPHA:276422
Tibial Hemimelia
Absent tibia OMIM:275220
C Syndrome
Short stature, Short nose, Fused sternal ossification centers, Patent ductus arteriosus, Delayed ... OMIM:211750
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Thick nasal alae, Macroglossia, Chronic otitis media, Epiphy... ORPHA:583
Apert Syndrome
Cutaneous finger syndactyly, Chronic otitis media, Hearing impairment, Overriding aorta, Delayed ... OMIM:101200
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal foot morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Ab... ORPHA:2990
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pes planus, Path... OMIM:271640
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Genu varum, Metaphyseal dysplasia, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Campomelic Dysplasia
Shortening of all phalanges of the toes, Talipes equinovarus, Hearing impairment, 11 pairs of rib... OMIM:114290
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Conductive hearing impairment, Pericarditis, Double... ORPHA:397
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Patent ductus arteriosus, Hearing impairment, Hypopl... OMIM:147750
Gm1 Gangliosidosis Type 1
Hearing impairment, Beaking of vertebral bodies T12-L3, Abnormal placenta morphology, Low-set ear... ORPHA:79255
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Pectus excavatum, Short stature, Prominent nasal bridge, Patent ductus... OMIM:300472
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Fibular aplasia, Micrognathia, Depressed nasal bridge, Mesomelic leg shortenin... ORPHA:2756
Codas Syndrome
Crumpled ear, Metaphyseal dysplasia, Short stature, Pes valgus, Proximal placement of thumb, Dela... OMIM:600373
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Growth delay, Hemivertebrae, Abnormal vertebral morphology, Sclerocorn... ORPHA:77298
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Short nose, Hypoplasia of the radius, Hearing impairment, ... ORPHA:3258
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Hemivertebrae, ... OMIM:184400
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle hypertrophy, Talipes equinovarus, Short stature, Overfolded heli... ORPHA:800
Shprintzen-Goldberg Craniosynostosis Syndrome
Talipes equinovarus, Joint contracture of the hand, Genu recurvatum, Pes planus, Camptodactyly, A... OMIM:182212
Chromosome 18Q Deletion Syndrome
Talipes equinovarus, Short stature, Pes planus, Patent ductus arteriosus, Proximal placement of t... OMIM:601808
Caudal Regression Sequence
Decreased muscle mass, Arrhinencephaly, Maternal diabetes, Hypertension, Talipes equinovarus, Abn... ORPHA:3027
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow... OMIM:210720
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid proces... OMIM:609813
Mosaic Trisomy 8
Short stature, Hearing impairment, Camptodactyly of finger, Anteverted nares, Protruding ear, Ver... ORPHA:96061
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Recombinant 8 Syndrome
Ventricular septal defect, Micrognathia, Patellar aplasia, Depressed nasal bridge, Pectus excavat... ORPHA:96167
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Wide nose, Hearing impairment, Pulmonic stenosis, Tetr... ORPHA:251076
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Abnormality of the calcaneu... ORPHA:163966
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Short lower limbs, Pectus excavatum, Pectus carinatum, Dispropo... OMIM:259440
Leopard Syndrome 3
Shield chest, Depressed nasal bridge, Growth delay, Short stature, Abnormal mitral valve morpholo... OMIM:613707
Faciodigitogenital Syndrome, Autosomal Recessive
Metatarsus adductus, Pectus excavatum, Vertebral fusion, Hyperextensible hand joints, Short nose,... OMIM:227330
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Palmoplantar cutis laxa, Short stature, M... OMIM:615355
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Short stature, Irregular vertebral endplates, Multiple joint disloca... OMIM:618395
Orofaciodigital Syndrome Viii
Broad nasal tip, Polydactyly, Short stature, Syndactyly, Bifid nasal tip, Short tibia OMIM:300484
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Intrauterine growth retardation, Short stature, Craniosynostosi... ORPHA:2145
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Hurler Syndrome
Short stature, Hearing impairment, Camptodactyly of finger, Anteverted nares, Hypertension, Depre... ORPHA:93473
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Fused cervical vertebrae, Hip d... ORPHA:530983
Jacobsen Syndrome
Broad hallux phalanx, Short stature, Abnormal form of the vertebral bodies, Short nose, Pes planu... ORPHA:2308
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Ventricular septal defect, Micrognathia, Pectus excav... ORPHA:2789
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Prolonged QT interval, Cardiomegaly, Bradycard... OMIM:601005
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Chronic otitis media, Short nose, Hearing impairment, Finger syndactyly, Ca... ORPHA:1507
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Short stature, Delayed closure of the anterior fontane... OMIM:605274
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Short stature, Bowing of ... ORPHA:2097
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Spondyloepimetaphyseal Dysplasia, Missouri Type
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... OMIM:602111
Aphalangy With Hemivertebrae
Ventricular septal defect, Hemivertebrae, Aphalangy of hands and feet, Aplasia of the phalanges o... OMIM:207620
Osteopathia Striata With Cranial Sclerosis