Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Cardiomyopathy, Familial Hypertrophic, 21 |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
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Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Mitral Valve Prolapse 1 |
|
Mitral valve prolapse |
OMIM:157700 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Congenital Heart Defects, Multiple Types, 2 |
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Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Dysosteosclerosis |
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Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Optic Atrophy 8 |
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Mitral valve prolapse |
OMIM:616648 |
Tarp Syndrome |
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Micrognathia, Glossoptosis, High palate, Atrial septal defect, Neonatal death, Microtia, Low-set ... |
OMIM:311900 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Mitral valve prolapse |
OMIM:211960 |
Cardiac Valvular Dysplasia, X-Linked |
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Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Tarp Syndrome |
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Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ear... |
ORPHA:2886 |
Odontochondrodysplasia 1 |
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Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx... |
OMIM:184260 |
Mass Syndrome |
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Mitral valve prolapse |
OMIM:604308 |
Aortic Valve Disease 1 |
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Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Mitral valve prolapse |
ORPHA:2233 |
Scarf Syndrome |
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Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Hepatocellular adenoma, Abnormal... |
ORPHA:3134 |
Cornelia De Lange Syndrome 1 |
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Proximal placement of thumb, Short neck, Ectopic kidney, High, narrow palate, Micromelia, Microgn... |
OMIM:122470 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Multicystic kidney dysplasia, Hypospadias, Posteriorly rotated ears, Short stature, Short neck, P... |
OMIM:257300 |
Diaphanospondylodysostosis |
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Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... |
ORPHA:66637 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse |
ORPHA:2183 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Ventricular septal defect, Short stature, Joint stiffness, Micrognathia, Renal hypoplasia/aplasia... |
ORPHA:1166 |
Polyvalvular Heart Disease Syndrome |
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Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:228410 |
Hypoplastic Left Heart Syndrome |
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Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Axial Mesodermal Dysplasia Spectrum |
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Short neck, Micrognathia, Anorectal anomaly, Abnormal form of the vertebral bodies, Renal cyst, V... |
ORPHA:1834 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Short stature, Renal agenesis, Stage 5 chr... |
OMIM:615993 |
Aortic Aneurysm, Familial Thoracic 9 |
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Mitral valve prolapse |
OMIM:616166 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Cardiofaciocutaneous Syndrome 2 |
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Mitral valve prolapse |
OMIM:615278 |
Scarf Syndrome |
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Barrel-shaped chest, Posteriorly rotated ears, Short neck, Abnormal form of the vertebral bodies,... |
OMIM:312830 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Mitral valve prolapse |
OMIM:173900 |
Prune Belly Syndrome |
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Congenital hip dislocation, Vertebral segmentation defect, Atrial septal defect, Vesicoureteral r... |
ORPHA:2970 |
Orofaciodigital Syndrome Type 3 |
|
Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, Stage 5 chronic kidney disease... |
ORPHA:2752 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndact... |
OMIM:236500 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Short st... |
ORPHA:1988 |
Ulbright-Hodes Syndrome |
|
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... |
ORPHA:3404 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Op... |
OMIM:615583 |
Cardiospondylocarpofacial Syndrome |
|
Mitral valve prolapse |
ORPHA:3238 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular sept... |
OMIM:614815 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... |
OMIM:258850 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Proteinuria, Posteriorly rotated ears, Intestinal malrotation, Non-aci... |
OMIM:222448 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse |
OMIM:225320 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Low-set ears, Epiphyseal stippling, Neonatal death, Renal cyst |
OMIM:614870 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse |
OMIM:606631 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept... |
OMIM:269150 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Ventricular septal defect, Posteriorly rotated ears, Proximal placement of thumb, Short stature, ... |
OMIM:620113 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... |
OMIM:608022 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Pectus ... |
ORPHA:2911 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... |
OMIM:256050 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, Absent thumb, Short th... |
OMIM:613390 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves... |
OMIM:617271 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Prominent interphalangeal joints, High palate, Clinodactyly of the 5th finger, Pr... |
OMIM:135900 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Abnormal lu... |
ORPHA:2631 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Narrow great... |
OMIM:312870 |
Distal Triplication 15Q |
|
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect... |
ORPHA:314588 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Short neck, Cardiomegaly, Multiple prenatal fractures, Flexion contractu... |
OMIM:616897 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Pulmonic stenosis, Mitral valve prolapse |
OMIM:609008 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Micromelia, Abnormal form of the vertebral bodies, Long ... |
ORPHA:2635 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia,... |
ORPHA:99226 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Short stature, Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, H... |
OMIM:617661 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... |
OMIM:314390 |
Momo Syndrome |
|
Underfolded helix, Short stature, Short neck, Femoral bowing, Short sternum, High palate, Abnorma... |
ORPHA:2563 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Micromelia, Micrognat... |
OMIM:617866 |
Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor... |
ORPHA:140976 |
Fragile X Syndrome |
|
Mitral valve prolapse |
ORPHA:908 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:230839 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic ki... |
ORPHA:887 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... |
OMIM:151210 |
Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Narrow chest, Atrial septal defect, Intrauterine gro... |
ORPHA:3378 |
Turnpenny-Fry Syndrome |
|
Prominent interphalangeal joints, Pectus carinatum, Long thorax, High palate, Gastroesophageal re... |
OMIM:618371 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Cleft palate, Polydacty... |
OMIM:613885 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Czeizel-Losonci Syndrome |
|
Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat... |
ORPHA:2437 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Unilateral renal agenes... |
OMIM:618845 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Mitral valve prolapse |
OMIM:247410 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Short... |
ORPHA:1393 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Abnormality of the kidney, Hearing impairment, Joint stiffness, Micromelia,... |
ORPHA:2655 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... |
OMIM:269860 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... |
OMIM:276950 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Short neck, Micrognathia, Wide anterior fontanel, Metaphyseal widening,... |
OMIM:263210 |
3C Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Abnormal tricu... |
ORPHA:7 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... |
OMIM:117650 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Holopr... |
OMIM:146510 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Momo Syndrome |
|
High palate, Short sternum, Underfolded helix, Short neck |
OMIM:157980 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Pulmo... |
ORPHA:3033 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dys... |
ORPHA:1318 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Renal cyst, High palate, Narrow chest, Thoracic dysplasia, Syndactyly, Hypospadias, S... |
OMIM:614091 |
Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology |
ORPHA:1277 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation,... |
ORPHA:99776 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A... |
ORPHA:2461 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Mitral valve prolapse |
OMIM:193400 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat... |
OMIM:619980 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Hypospadias, Abnormal pinna morphology, Postaxial polydac... |
OMIM:614175 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Pectus excavatum, Hearing abnormality, Protruding ear, Radioulnar s... |
ORPHA:3270 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Conductive hearing im... |
ORPHA:261197 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Marden-Walker Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Congenital contracture, Zollinger-Ellison syndrome... |
OMIM:248700 |
Frank-Ter Haar Syndrome |
|
Mitral valve prolapse |
ORPHA:137834 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive... |
OMIM:102500 |
Trisomy 17P |
|
Hypoplasia of penis, Short neck, Micrognathia, Flexion contracture, High palate, Clinodactyly of ... |
ORPHA:261290 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Mitral valve prolapse |
ORPHA:2848 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Right ventricular hypertrophy |
ORPHA:324604 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Vertebral seg... |
ORPHA:2578 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the... |
OMIM:200980 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs,... |
ORPHA:3301 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... |
OMIM:616300 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short stature, Recurrent fractures, Short neck, Micrognathia, ... |
ORPHA:1486 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
Thanatophoric Dysplasia, Type I |
|
Short neck, Femoral bowing, Narrow chest, Neonatal death, Small abnormally formed scapulae, Wide-... |
OMIM:187600 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Short stature, Micromelia, Micrognathi... |
OMIM:241800 |
Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse |
ORPHA:309155 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Severe short stature, Short thumb, Hypoplasia of the radius, Abnorma... |
ORPHA:2319 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Protruding ear, Abnormal sho... |
ORPHA:2115 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... |
OMIM:113650 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Cleft palate, Transposition of ... |
OMIM:231060 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology |
ORPHA:903 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Anis... |
ORPHA:1865 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Joint hyperflexibility,... |
ORPHA:3375 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Joint st... |
ORPHA:3027 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Micrognathia, Proximal renal tu... |
OMIM:181180 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Short neck, ... |
OMIM:200600 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Gastroesophageal reflux, Atrial septal defect, Pulmonary artery atresia, ... |
OMIM:618316 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Kyphosis, Postaxial hand polydactyly, Hy... |
ORPHA:2075 |
Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... |
ORPHA:261318 |
Cap Myopathy |
|
Mitral valve prolapse |
ORPHA:171881 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... |
ORPHA:90652 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Isolated Polycystic Liver Disease |
|
Back pain, Gastroesophageal reflux, Multiple renal cysts, Gastrointestinal hemorrhage |
ORPHA:2924 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Renal cyst |
OMIM:174050 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micropenis, Absent... |
ORPHA:1692 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Short neck, Micro... |
ORPHA:3015 |
Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse |
ORPHA:115 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Three M Syndrome 1 |
|
Scapular winging, Hypospadias, Short stature, Short neck, Hyperlordosis, Increased vertebral heig... |
OMIM:273750 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Postnata... |
OMIM:179613 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:3032 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, Pe... |
ORPHA:958 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Osteoporosi... |
OMIM:615398 |
Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars... |
ORPHA:96148 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal ref... |
OMIM:300373 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Cardiomegaly, Delayed epiphyseal ossification, Narrow chest, Death in chi... |
OMIM:613320 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Pectus carina... |
ORPHA:93315 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse |
OMIM:614185 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... |
OMIM:263520 |
Polysyndactyly With Cardiac Malformation |
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Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro... |
OMIM:617468 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Fryns Syndrome |
|
Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Atrial septal defect, ... |
OMIM:229850 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Abnormal cardiac septum morphology, ... |
OMIM:608776 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A... |
ORPHA:1507 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect... |
ORPHA:2538 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, Atrial septal de... |
OMIM:612863 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re... |
OMIM:134780 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifida occulta, Vertebral fusion,... |
OMIM:613686 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse |
ORPHA:555877 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Low-set ears, Epiphyseal stippling, Wide anterior fontanel, Polycystic kidney dysplasia |
OMIM:614859 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Abnorm... |
OMIM:239800 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Gastrointestinal dysmotility, Abnormal tongue mor... |
ORPHA:531151 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... |
OMIM:617063 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist... |
ORPHA:73230 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... |
OMIM:611134 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Abnormal renal corticomedullary differentiatio... |
OMIM:616733 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... |
ORPHA:3035 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Anteriorly placed anus, Atrial septal defect, Abnormality of the cervic... |
ORPHA:1708 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Pect... |
OMIM:224690 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Postaxial polydactyly, Aplastic clavicle, Short neck, Hamartoma of tongue,... |
OMIM:616546 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Short stature, Proximal placement of thumb, Hearing impairment, Abnorm... |
ORPHA:94065 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral valve prolapse |
OMIM:258450 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... |
ORPHA:73 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver... |
OMIM:616817 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Ventricular septal defect, Ectopic kidney, Neonatal death, C... |
OMIM:613730 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Finger syndactyly, Multicystic kidney dysplasia, Spina bifida, Split han... |
ORPHA:2092 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... |
OMIM:312150 |
Cohen Syndrome |
|
Mitral valve prolapse |
OMIM:216550 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial septal defect, Do... |
ORPHA:371428 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly pla... |
ORPHA:798 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... |
ORPHA:397715 |
Pseudoxanthoma Elasticum |
|
Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse |
OMIM:264800 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Gastroesophageal reflux, Atrial septal defect, Hypoplastic cervical vertebrae,... |
ORPHA:79345 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst, Nephrocalcinos... |
ORPHA:369837 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absenc... |
OMIM:120330 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Renal agenesis, Short neck, Absent thumb, Esophageal... |
OMIM:300514 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Mitral valve prolapse |
OMIM:236200 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal age... |
ORPHA:1335 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Thickened helice... |
ORPHA:261494 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Cleft palate, T... |
OMIM:253290 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Decreased skull o... |
ORPHA:955 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Low-set,... |
ORPHA:2308 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse |
OMIM:130000 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... |
OMIM:616564 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Esophageal atresia... |
ORPHA:77298 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Short stature, Micrognathia, Hypoplastic ilia, Pat... |
ORPHA:85201 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Severe short stature, Posteriorly rotated ears... |
OMIM:224410 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Micrognathia, Symphalangism affecting the phalanges of the hand, Vertebral s... |
ORPHA:2990 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t... |
ORPHA:107 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... |
OMIM:619879 |
Noonan Syndrome 13 |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:619087 |
Contractural Arachnodactyly, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:121050 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of... |
ORPHA:464306 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... |
ORPHA:500 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
Fryns Syndrome |
|
Short neck, Micrognathia, High palate, Gastroesophageal reflux, Narrow chest, Vesicoureteral refl... |
ORPHA:2059 |
Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Short sta... |
ORPHA:912 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Mitral valve prolapse |
OMIM:177850 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Card... |
OMIM:614922 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Hi... |
ORPHA:536467 |
Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse |
OMIM:166200 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Short stature, Hearing abnormali... |
ORPHA:2031 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular septal defect, ... |
OMIM:211750 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... |
OMIM:135150 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Craniosynostosis, Micr... |
ORPHA:166035 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Protruding ear, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of th... |
ORPHA:464311 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, High pa... |
OMIM:266920 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Fetal pyelectasis, Knee... |
OMIM:616531 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Short neck, Micromelia, Postaxial... |
OMIM:200995 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b... |
ORPHA:93346 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Atrial septal defect, Short stature, Sensorineural hearing impairment, Sub... |
OMIM:617660 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Neph... |
OMIM:617056 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Short stature,... |
ORPHA:1001 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Left ventricular hypertrophy, Abnormal heart valve morphology, Mitral valve... |
ORPHA:230851 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Raine Syndrome |
|
Micromelia, Short neck, Micrognathia, Protruding ear, High palate, Neonatal death, Long hallux, D... |
OMIM:259775 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Alveolar Echinococcosis |
|
Low back pain, Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, ... |
ORPHA:284 |
Floating-Harbor Syndrome |
|
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Atrial... |
ORPHA:2044 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Hematemesi... |
OMIM:263200 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Short stature, Postaxial polydactyly, Micrognathia, Sensorin... |
OMIM:618460 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Postnatal growth retardation, Hypoplasia ... |
ORPHA:251061 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte... |
ORPHA:97360 |
2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, Enlarged thorax, High palate, Multicystic kidney dysplasia, Facial palsy, Tapered... |
ORPHA:261349 |
Noonan Syndrome 14 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse |
OMIM:619745 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricular septal defec... |
OMIM:220500 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatocellular carcinoma, Re... |
OMIM:619902 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Femoral bowing, Hypertrophic cardi... |
OMIM:615415 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Short neck, Humeroradial synostosis,... |
OMIM:251230 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest... |
OMIM:270400 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mitral valve prolapse |
ORPHA:449291 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Hydroc... |
OMIM:614424 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Micrognathia, Protruding ... |
OMIM:618829 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Overriding aorta, Ventricular septal defect, Stiff neck,... |
OMIM:617022 |
Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Pulmonary hypoplasia, Neonatal death, Arthrogryposis mu... |
OMIM:253310 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse |
OMIM:104350 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Microg... |
OMIM:263750 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
15q26 overgrowth syndrome |
|
Short neck, Micrognathia, Abnormal finger morphology, High palate, Vesicoureteral reflux, Long to... |
DECIPHER:81 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Short stature, Craniosynostos... |
OMIM:250410 |
Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Occipital encephalocele, Unilateral renal agenesis, Postaxial h... |
OMIM:216360 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:110 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Mitral valve prolapse |
OMIM:614816 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Abnormal lung lobatio... |
ORPHA:818 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Posteriorly rotated ears, Short stature, Micrognathia, 2-3 toe cutaneo... |
OMIM:618454 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Miscarriage, Postnatal growth retardation, Preaxial hand polyda... |
ORPHA:96179 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Mitral valve prolapse |
OMIM:618000 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Bone cyst, Renal cyst, Abnormal heart morphology, Membr... |
ORPHA:400 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis |
ORPHA:2111 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmona... |
OMIM:617194 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contr... |
ORPHA:171430 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Death in infancy, Pericarditis, Villous atrophy, Proteinuria, Pericardial effusion, K... |
OMIM:212065 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Renal agenesis, Spina bifida, Micrognathia, Renal ... |
ORPHA:3412 |
Chromosome 17Q12 Deletion Syndrome |
|
Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney d... |
OMIM:614527 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonatal death, Atrial sep... |
OMIM:601186 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Pulmonary hypoplasia, Neo... |
OMIM:619003 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... |
OMIM:615994 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, ... |
OMIM:610199 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... |
OMIM:304120 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triph... |
OMIM:192350 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing imp... |
ORPHA:959 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodacty... |
OMIM:616975 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Restrictive cardiomyopathy, Mitral valve prolapse |
ORPHA:758 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p... |
ORPHA:373 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Micrognathia, High palate, Clinodactyly of the 5th finger, Disloc... |
OMIM:210600 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Shor... |
ORPHA:991 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Pectus carinatum, Renal fibrosi... |
OMIM:618161 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Short neck, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ea... |
OMIM:609625 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Bifid ... |
OMIM:615777 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Hypospadias, Joint stiffness, Oral-pharyngeal dysphagia, ... |
OMIM:619184 |
Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked ... |
ORPHA:171929 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnat... |
OMIM:302960 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Distal Deletion 12Q |
|
Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Aplasia/Hypoplasia of the middle p... |
ORPHA:96149 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... |
ORPHA:994 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... |
OMIM:611561 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Mitral valve prolapse |
ORPHA:93932 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... |
ORPHA:93271 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Bilobed right lung, Hydrocephalus, Anencepha... |
OMIM:612284 |
Kagami-Ogata Syndrome |
|
Long clavicles, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers... |
OMIM:608149 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Neonatal short-limb short stature, Distal shortening of limbs, Short ... |
ORPHA:50945 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Craniosynostosis, Postnatal... |
OMIM:614732 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... |
ORPHA:536471 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Short stature, Micrognathia, Velopharyngeal insufficiency, Abnormal heart morphology... |
OMIM:300978 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Right atrial enlargement, Mitral valve prolapse |
OMIM:620233 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cutaneous finger syndactyly, Conductive hearing impairment, Micr... |
OMIM:219000 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v... |
ORPHA:93473 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Mitral valve prolapse |
ORPHA:251066 |
Alg3-Cdg |
|
Osteopenia, Abnormality of the gastrointestinal tract, Abnormal pinna morphology, Metaphyseal cho... |
ORPHA:79321 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Micrognathia, Metatarsus adductus, Optic nerve dysplasia, Cleft palate, Abnormal heart morphology... |
OMIM:214110 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hy... |
OMIM:617895 |
Esophageal Atresia |
|
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the ear, Clinodactyly... |
ORPHA:1199 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Mitral valve prolapse |
OMIM:616914 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, ... |
OMIM:231680 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... |
ORPHA:2257 |
Stuve-Wiedemann Syndrome 1 |
|
Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth tongue,... |
OMIM:601559 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Fing... |
ORPHA:1596 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Renal cyst, High palate, Atrial septal defect, Death in infancy, Hypospadias, Wide ... |
OMIM:614866 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Clinodac... |
ORPHA:1606 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Micrognathia, Renal cyst, High palate, Narrow chest, Atrial septal defect, Patent for... |
OMIM:613610 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Atr... |
ORPHA:567 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Short stature, Pectus excavatum, 3-4 finger cutaneous synd... |
OMIM:612530 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Osteomalacia, Hypocitraturia, Sensorineural hearing impairment,... |
ORPHA:18 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Ves... |
OMIM:617219 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Hemivertebrae, Gastroesophageal reflux, Micropenis, Hypospadias, Tapered ... |
OMIM:301040 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Abnormal pinna morphology, Hyperlordosis, Glutaric aciduria, Wide anterior font... |
ORPHA:26791 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal ... |
OMIM:275210 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... |
ORPHA:96334 |
Autosomal Dominant Polycystic Kidney Disease |
|
Mitral valve prolapse |
ORPHA:730 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomal... |
OMIM:617478 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Knee flexion contracture, High palate, Long toe, Death in inf... |
OMIM:608836 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr... |
OMIM:614096 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux, Narrow chest, Micropenis, ... |
OMIM:613803 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral... |
OMIM:107480 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Unilateral renal agenesis, Postnatal growth retardation... |
OMIM:616603 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, M... |
ORPHA:1724 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Sensorineural hearing impairment, Optic atrophy, Megalopa... |
OMIM:615636 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Postnatal growth retardation, Rickets, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart morphology |
ORPHA:85438 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Hypoplasia of penis, Intesti... |
ORPHA:2323 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi... |
OMIM:615560 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Low-set ears, Clinodact... |
OMIM:601163 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Death in childhood, Proximal tubulopathy, Protein-losing enteropathy... |
OMIM:602579 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... |
ORPHA:2847 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, Conductive hearing impairment, Ve... |
OMIM:157800 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
3Mc Syndrome 1 |
|
Atrial septal defect, Sacral dimple, Ventricular septal defect, Single interphalangeal crease of ... |
OMIM:257920 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Ren... |
ORPHA:139466 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Multicystic kidney dysplasia, Intestinal... |
ORPHA:1052 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal thumb morpho... |
ORPHA:500095 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst, Death in infancy |
OMIM:614862 |
Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Mitral valve prolapse |
OMIM:305620 |
Tetrasomy 9P |
|
Glue ear, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Pate... |
ORPHA:3310 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... |
OMIM:602782 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, ... |
ORPHA:79328 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Anteriorly placed anus, High palate, Narrow chest, Distally placed thumb, Encephalo... |
OMIM:619148 |
Saethre-Chotzen Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Clinod... |
ORPHA:794 |
3Mc Syndrome 2 |
|
Hypospadias, Hearing impairment, Limited elbow movement, Craniosynostosis, Postnatal growth retar... |
OMIM:265050 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Hypospadias, Ventricular septal defect, Optic nerve hypopl... |
OMIM:206900 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Abnormal carpal morphology, Finger clinodactyl... |
OMIM:142900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Micrognathia, Large fleshy ears, High palate, Gastroesophageal reflux, Atri... |
OMIM:614080 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Vesicoureteral... |
OMIM:606232 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, High palate, Na... |
OMIM:213980 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, High, narrow palate, Aminoaciduria, High palate, Death in childhood, Hypospadias, W... |
OMIM:214100 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolap... |
ORPHA:904 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Atrial septal defect, Prom... |
OMIM:147920 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Proportionate short stature, Renal... |
ORPHA:488618 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Oculocerebrorenal Syndrome Of Lowe |
|
Micrognathia, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoaciduria, Gastroesophage... |
ORPHA:534 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Recurrent respiratory infections, Facial palsy, High palate, Pulmonary hypoplasia, ... |
OMIM:255320 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse |
ORPHA:1900 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Postaxial hand polyda... |
ORPHA:1454 |
Shprintzen-Goldberg Syndrome |
|
Abnormal aortic valve morphology, Mitral valve prolapse |
ORPHA:2462 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Fraser Syndrome |
|
Hypoplasia of penis, Abnormal lung lobation, Urethral atresia, Vertebral segmentation defect, Hig... |
ORPHA:2052 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pu... |
ORPHA:709 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Posteriorly rotated ears, Short hallux, Short ... |
ORPHA:3309 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, High palate, Scapular winging,... |
OMIM:620369 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Hemivertebrae, Atrial septal defect, Vesicoureteral reflux,... |
OMIM:118450 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Micrognathia, Rectal prolapse, Gastroesophageal reflux, Multiple bladder diverticula,... |
OMIM:613177 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Syndactyly, Postaxial foot p... |
OMIM:249000 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Pancreatic cy... |
OMIM:208540 |
Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse |
ORPHA:284979 |
Epidermal Nevus Syndrome |
|
Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Polycystic kidney dysplasia |
ORPHA:35125 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:607459 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... |
ORPHA:1880 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Mitral valve prolapse |
OMIM:175050 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Mitral valve prolapse |
OMIM:182212 |
Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... |
OMIM:151100 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria... |
OMIM:606170 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept... |
OMIM:300855 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... |
ORPHA:95699 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Posteriorly rotated ears, Rectal ... |
ORPHA:49 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Short... |
ORPHA:1297 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... |
ORPHA:233 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Micrognathia, Postnatal growth retardation, Wide anteri... |
OMIM:619135 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cl... |
OMIM:202650 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Short stature, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta ... |
ORPHA:97362 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Reduced bone miner... |
ORPHA:1556 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse |
ORPHA:536532 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Growth delay, 3-... |
ORPHA:445038 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micromelia, Micrognathia, High pala... |
ORPHA:199 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Pectus excavatum, Respirator... |
OMIM:618975 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Mitral valve prolapse |
ORPHA:508533 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ectopic kidney, Micrognathia, Hemivertebrae, Anotia, Conductive hearing ... |
OMIM:164210 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal d... |
OMIM:268300 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Overlapping toe, Arachnodactyly, Micrognathia, Postnatal growth retardation, Cont... |
ORPHA:83617 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges ... |
ORPHA:1112 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Optic disc coloboma, Hydrocephalu... |
OMIM:608091 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Mitral valve prolapse |
OMIM:611962 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect... |
ORPHA:1662 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Postnatal growth retardation, Pectus excavatum, Large pl... |
ORPHA:254528 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Sacral dimple, Toe syndactyly, Multicystic k... |
ORPHA:1308 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Meacham Syndrome |
|
Death in infancy, Congenital alveolar dysplasia, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:608978 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... |
ORPHA:79404 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly |
OMIM:231005 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Renal cyst, Gastroesophageal reflux, Condu... |
OMIM:113620 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Anteriorly placed anus, Cutaneous finger synda... |
OMIM:601390 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Pulmonary hypopl... |
ORPHA:2470 |
Neurooculorenal Syndrome |
|
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Charge Syndrome |
|
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular can... |
ORPHA:138 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in childhood, Neonatal death, Atrial septal defect, Death in infancy, Multicystic kidney dy... |
OMIM:308205 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... |
OMIM:311200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... |
ORPHA:2241 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Progressive forearm bowing, Hearing impairment, Micrognathia, Micromelia, Shor... |
OMIM:600383 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Optic atrophy, Dilatation of the renal pelvis, Bronchiectasis, Knee flexi... |
OMIM:619708 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Mitral valve prolapse |
ORPHA:369950 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl... |
OMIM:618061 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi... |
OMIM:184705 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Optic atrophy, Pulmonary hypoplasia, Short stature |
OMIM:618174 |
3Mc Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Hyperlordosis, Craniosynostosis, Postnatal growth ... |
ORPHA:293843 |
Joubert Syndrome 1 |
|
Optic disc pallor, Protruding tongue, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst... |
OMIM:213300 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Micrognathia, Decreased nerve conduction velocity, Pectus excavatum, Split hand, Rena... |
OMIM:261515 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent... |
OMIM:309800 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplasia, Dysphagia, Arthrogryposis... |
OMIM:616867 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Short stature, Polycystic kidney dysplasia |
OMIM:211890 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:609192 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology |
ORPHA:1192 |
Legius Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Upper limb undergrowth, Thoracic hypoplasia |
OMIM:613124 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Lateral clavicle hoo... |
OMIM:615503 |
Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Proteus Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the vertebral bodies, Renal ... |
ORPHA:744 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea... |
OMIM:243910 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Rhizomelia, Kyph... |
ORPHA:263508 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Holoprosencephaly, ... |
OMIM:214800 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Spina bifida, Flexion contracture, Osteoporos... |
ORPHA:2671 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Patent foramen ov... |
OMIM:256520 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly placed anus, Gastroesophagea... |
OMIM:612289 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse |
OMIM:300989 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... |
ORPHA:2750 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... |
OMIM:236700 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... |
OMIM:267010 |
Marfan Syndrome |
|
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Mitral annular calcification |
OMIM:154700 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Situs inversus totalis, Abnormal cranial ... |
ORPHA:990 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Helsmoortel-Van Der Aa Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology |
OMIM:615873 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... |
ORPHA:2556 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Atrial septal defect, Biventricular hypertrophy, Patent foramen ovale, Mitral valve prolapse |
OMIM:617402 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydrocephalus, Red... |
ORPHA:228308 |
Autosomal Recessive Polycystic Kidney Disease |
|
Micrognathia, Protein-losing enteropathy, Hepatoblastoma, Oliguria, Low-set ears, Reduced renal c... |
ORPHA:731 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Renal agenesis, Pulmonary arte... |
OMIM:611812 |
Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural hearing impairment, ... |
OMIM:618733 |
Heterotaxy, Visceral, 1, X-Linked |
|
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... |
OMIM:306955 |
Catel-Manzke Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th fi... |
OMIM:616145 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:601776 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ... |
OMIM:619562 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Short neck, Micrognathia, Flexion contracture, Renal cyst, Anteriorly... |
OMIM:601803 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Endocarditis, Abnormal aortic valve m... |
ORPHA:3099 |
Leopard Syndrome 3 |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal aortic valve morphology |
OMIM:613707 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu... |
OMIM:300166 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Posteriorly rotated ears, Renal cyst, Low-set ears, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h... |
OMIM:618164 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Wide anterior fontanel, Flexion contracture, Optic atrophy, Renal cortical cysts |
OMIM:609180 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Bowing of the long bones, Multicystic ki... |
ORPHA:564 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... |
OMIM:218040 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Marfan Syndrome |
|
Mitral valve calcification, Mitral valve prolapse |
ORPHA:558 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Small bowel diverticula, Unilateral renal agenesis, Postnatal growth re... |
ORPHA:90348 |
Noonan Syndrome 1 |
|
Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s... |
OMIM:163950 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Short stature, Tapered ... |
OMIM:303600 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Peters-Plus Syndrome |
|
Ureteral duplication, Proximal placement of thumb, Short neck, Limited elbow movement, Micrognath... |
OMIM:261540 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... |
ORPHA:538 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Gastritis, Sho... |
ORPHA:84064 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Renal age... |
ORPHA:411709 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Immunodeficiency 96 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Multicystic kidney dysplasi... |
OMIM:619774 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Abnormal cardiac ventricle mor... |
ORPHA:2306 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Secundum atrial septal defect, Multiple prenatal fractures, Flexion contractur... |
OMIM:616866 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Mitral valve prolapse, Perimembranous ventricular septal defect, Hypop... |
OMIM:180849 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,... |
ORPHA:1848 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Micrognathia, Ankylosis, Flexion contractur... |
OMIM:616503 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the ear, Conductive hearing impairm... |
ORPHA:2753 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum... |
OMIM:219730 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Uplifted earlobe, Micrognathia, Pectus excavatum, Wide anterior fontanel, Renal cortical cysts, S... |
OMIM:618548 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Osteoporosis, Nephrolithiasis, Renal cyst, Hy... |
ORPHA:99880 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... |
ORPHA:2237 |
Von Hippel-Lindau Disease |
|
Back pain, Papilledema, Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Vert... |
ORPHA:892 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stif... |
ORPHA:93 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Intrauter... |
ORPHA:552 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Micrognat... |
OMIM:620025 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Peptic ulcer, Osteoporosis, Nephrolithiasis, Renal cyst, Hy... |
ORPHA:143 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Neonatal death |
OMIM:245650 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Short stature, Sagittal craniosynostosis, Micrognathia, Small hand, Pu... |
OMIM:145420 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... |
ORPHA:63260 |
Mohr-Tranebjaerg Syndrome |
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Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Loeys-Dietz Syndrome 2 |
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Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:610168 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormal mitral valve morphology |
ORPHA:1876 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Bardet-Biedl Syndrome 12 |
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Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... |
ORPHA:261265 |
Spondylospinal Thoracic Dysostosis |
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Arthrogryposis multiplex congenita, Short thorax, Pulmonary hypoplasia, Micrognathia |
OMIM:601809 |
Atypical Werner Syndrome |
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Aortic valve calcification, Aortic valve stenosis, Mitral valve prolapse |
ORPHA:79474 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Optic nerve hypoplasia, Short neck, Micrognathia, Renal cyst, Anteriorly placed anus... |
ORPHA:495875 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Micrognathia, Microtia, Pulmonary hypoplasia, Low-set ears, Dysphagia, Neonatal dea... |
OMIM:608013 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus ... |
ORPHA:261537 |
Renal Hypodysplasia/Aplasia 1 |
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Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Low-set ears, Renal dysplasia |
OMIM:191830 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Gastrointestina... |
ORPHA:2152 |
Histiocytoid Cardiomyopathy |
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Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Cleft palate, Renal cyst, ... |
ORPHA:137675 |
Classical Ehlers-Danlos Syndrome |
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Tricuspid valve prolapse, Mitral valve prolapse |
ORPHA:287 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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11 pairs of ribs, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital encephaloc... |
OMIM:615287 |
Nephronophthisis 1 |
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Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Hypoplasia of penis, Micrognathia, Tracheoesophageal fistula, C... |
ORPHA:861 |
Von Hippel-Lindau Syndrome |
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Pancreatic cysts, Pulmonary capillary hemangiomatosis, Vertigo, Sensorineural hearing impairment,... |
OMIM:193300 |
Tuberous Sclerosis Complex |
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Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... |
ORPHA:805 |
Tuberous Sclerosis 2 |
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Absence of renal corticomedullary differentiation, Cardiac rhabdomyoma, Renal cyst, Renal cell ca... |
OMIM:613254 |
Stickler Syndrome |
|
Mitral valve prolapse |
ORPHA:828 |
Lowe Oculocerebrorenal Syndrome |
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Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Short st... |
OMIM:309000 |
Mpdu1-Cdg |
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Wide anterior fontanel, Optic atrophy, Absence of acoustic reflex, Renal cortical cysts |
ORPHA:79323 |
Pearson Syndrome |
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Renal insufficiency, Median cleft lip and palate, Proteinuria, Postnatal growth retardation, Lact... |
ORPHA:699 |
Deafness, Autosomal Dominant 9 |
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Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Tetraamelia Syndrome 1 |
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Renal agenesis, Micrognathia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, U... |
OMIM:273395 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Myxomatous mitral valve ... |
OMIM:194050 |
X-Linked Mandibulofacial Dysostosis |
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Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus ... |
ORPHA:261552 |
Nephronophthisis 4 |
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Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Arthrogryposis multiplex congenita,... |
ORPHA:86822 |
Congenital Diaphragmatic Hernia |
|
Prominent sternum, Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:2140 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Posterior... |
ORPHA:116 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Atrial ... |
OMIM:613795 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Short tibia |
OMIM:620306 |
Tuberous Sclerosis 1 |
|
Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... |
OMIM:191100 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Congenitally Corrected Transposition Of The Great Arteries |
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Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Tracheomalacia, Cardiomegaly, Esophageal atresia, Partial a... |
ORPHA:95430 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great... |
OMIM:313850 |
Viss Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse, Right ventricular d... |
OMIM:619472 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... |
OMIM:605275 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... |
ORPHA:1435 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o... |
ORPHA:2008 |
1Q41Q42 Microdeletion Syndrome |
|
Short stature, Submucous cleft hard palate, Cleft palate, Growth delay, Pulmonary hypoplasia, Hol... |
ORPHA:250999 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification |
OMIM:203500 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Polymyositis |
|
Abnormal mitral valve morphology, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Pericarditis |
ORPHA:732 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Fetal megacy... |
OMIM:619351 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis |
OMIM:614609 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Mitral valve prolapse |
OMIM:130050 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Sensorineural hearing impairment, Sta... |
OMIM:613159 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Anal stenosis, Hypospadias, Short stature, Tracheomalacia, Micrognathia, ... |
ORPHA:314679 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia |
OMIM:267430 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Abnormal heart valve morphology |
ORPHA:56 |
Caroli Disease |
|
Cholangiocarcinoma, Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... |
ORPHA:99125 |
Dpagt1-Cdg |
|
Arachnodactyly, Flexion contracture, Osteoporosis, Optic atrophy, Pulmonary hypoplasia, Scoliosis... |
ORPHA:86309 |
Beckwith-Wiedemann Syndrome |
|
Hepatoblastoma, Nephroblastoma, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcin... |
OMIM:130650 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse |
ORPHA:286 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Proteinuria, Abnormal pinna ... |
ORPHA:79318 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Aortic valve stenosis, Mitral valve calcification |
ORPHA:363618 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Caroli Syndrome |
|
Cholangiocarcinoma, Abnormality of the kidney, Hematemesis, Esophageal varix, Melena, Polycystic ... |
ORPHA:480520 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea... |
ORPHA:980 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... |
ORPHA:163956 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology |
ORPHA:1969 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Left ventricular hypertrophy, Hypert... |
OMIM:220111 |
Mucopolysaccharidosis, Type Vi |
|
Cardiomyopathy, Mitral stenosis |
OMIM:253200 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... |
ORPHA:99050 |
Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aortic valve morphology, Left ventricu... |
ORPHA:576 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... |
ORPHA:580 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal myocardium morphology, Abnormal aortic valve morpholog... |
ORPHA:581 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Muscular ventricular septal defect, Hypoplastic left h... |
OMIM:619503 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Cardiomyopathy, Abnormal tr... |
ORPHA:217085 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular dilatation, Abnormal mitral valve morphology, Right atrial enlargement |
ORPHA:99103 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Cardiomyopathy, Abnormal tr... |
ORPHA:217093 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Left ventricular hypertrophy, Mitral valve calcification, Patent foramen ovale |
OMIM:619127 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Aortic valve calcification,... |
ORPHA:740 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... |
ORPHA:649 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification |
ORPHA:60025 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |