Klippel-Feil Syndrome 2, Autosomal Recessive |
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Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S... |
OMIM:214300 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexi... |
OMIM:616549 |
Catel-Manzke Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Short stature, Joint stiffness, Micrognathia,... |
ORPHA:1388 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef... |
OMIM:618845 |
Sifrim-Hitz-Weiss Syndrome |
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Atrial septal defect, Epicanthus, Ventricular septal defect, Short stature, Patent ductus arterio... |
OMIM:617159 |
Isolated Klippel-Feil Syndrome |
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Ventricular septal defect, Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of t... |
ORPHA:2345 |
Shashi-Pena Syndrome |
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Thin upper lip vermilion, Short metacarpal, Ptosis, Epicanthus, Dilation of Virchow-Robin spaces,... |
OMIM:617190 |
Ritscher-Schinzel Syndrome 1 |
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Ventricular septal defect, Micrognathia, Missing ribs, Hemivertebrae, Double outlet right ventric... |
OMIM:220210 |
Heart Defects-Limb Shortening Syndrome |
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Atrial septal defect, Death in infancy, Ventricular septal defect, Accelerated skeletal maturatio... |
ORPHA:1354 |
Verheij Syndrome |
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Joint laxity, Vertebral fusion, Branchial cyst, Thin upper lip vermilion, Ventricular septal defe... |
OMIM:615583 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Frontometaphyseal Dysplasia 1 |
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Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Kbg Syndrome |
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Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Short stature, M... |
ORPHA:2332 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Epicanthus, Mild postnatal growth retardation, Micrognathia, Fused cervical verteb... |
ORPHA:530983 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Recombinant Chromosome 8 Syndrome |
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Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Postnatal grow... |
OMIM:179613 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Ptosis, Short stature, Narrow mouth, Growth delay, Downturned corners of mouth, Wide mouth, Long ... |
OMIM:617333 |
Genitopalatocardiac Syndrome |
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Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
Eng-Strom Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Short stature, Arthritis, Abnormal cardiac se... |
ORPHA:1937 |
Mosaic Trisomy 20 |
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Vertebral fusion, Ventricular septal defect, Micrognathia, Kyphosis, Cleft lip, Dysplastic tricus... |
ORPHA:1724 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:253290 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... |
OMIM:178110 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Micrognathia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Compul... |
ORPHA:352490 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Fallot Complex With Severe Mental And Growth Retardation |
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Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
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Osteopenia, Epicanthus, Ventricular septal defect, Impulsivity, Deep philtrum, Patent ductus arte... |
OMIM:619717 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Mal... |
ORPHA:2522 |
Nemaline Myopathy 9 |
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Ventricular septal defect, Micrognathia, Cleft palate, High palate, Scoliosis, Arthrogryposis mul... |
OMIM:615731 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... |
OMIM:277300 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
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Sacral dimple, Ventricular septal defect, Micrognathia, Delayed skeletal maturation, Thick lower ... |
OMIM:608227 |
Brachydactyly, Type B1 |
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Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... |
OMIM:113000 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
Thakker-Donnai Syndrome |
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Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned corne... |
ORPHA:1780 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Kniest Dysplasia |
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Arthropathy, Enlarged joints, Short neck, Aplasia/hypoplasia of the extremities, Delayed epiphyse... |
ORPHA:485 |
Aarskog-Scott Syndrome |
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Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Abnormal ver... |
ORPHA:915 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Short stature, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palat... |
OMIM:619227 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Fanconi Anemia, Complementation Group I |
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Ventricular septal defect, Short stature, Short neck, Absent thumb, Short thumb, Short 1st metaca... |
OMIM:609053 |
14Q11.2 Microdeletion Syndrome |
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Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Highly arched eyebrow, Micrognath... |
ORPHA:261120 |
Fetal Trimethadione Syndrome |
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Epicanthus, Ventricular septal defect, Micrognathia, Synophrys, High palate, Transposition of the... |
ORPHA:1913 |
Congenital Heart Defects, Multiple Types, 5 |
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Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Lateral Meningocele Syndrome |
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Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, High palate, Vertebral fusion, ... |
OMIM:130720 |
Chromosome 8Q22.1 Duplication Syndrome |
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Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangeal joint contrac... |
OMIM:151200 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
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Tooth agenesis, Non-midline cleft lip, Ankyloblepharon, Cleft palate |
ORPHA:1074 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Thin upper lip vermilion, Short stature, Short thumb, Short toe, Short distal phalanx of the thum... |
ORPHA:370010 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Short hallux, Elbow dislocation, Short thumb, Limitation of joint... |
ORPHA:90650 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Mandibular prognathia, Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Short neck, ... |
ORPHA:508498 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Epicanthus, Upslanted palpebral fissure, High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
Microphthalmia, Isolated, With Coloboma 4 |
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Microphthalmia, Orbital cyst |
OMIM:251505 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, Microdontia, Vertebral... |
ORPHA:96169 |
16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Craniosynostosis, Aggressive behavior, Coarctation of aorta, Joint hyp... |
ORPHA:261243 |
Koolen-De Vries Syndrome |
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Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vertebral fusion, ... |
OMIM:610443 |
Distal 7Q11.23 Microdeletion Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Aggress... |
ORPHA:254351 |
Li-Campeau Syndrome |
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Telecanthus, Ventricular septal defect, Short stature, Patent ductus arteriosus, Patellar hypopla... |
OMIM:619189 |
Cerebrooculofacioskeletal Syndrome 3 |
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Microphthalmia, Cleft palate, Edema |
OMIM:616570 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
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Ankyloblepharon, Cleft palate, Cleft upper lip |
OMIM:106250 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Arthropathy, Bicuspid aortic valve, Ventricular septal defect, Sclerotic cranial sutu... |
ORPHA:371428 |
Microphthalmia, Syndromic 8 |
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Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Blephar... |
OMIM:601349 |
Spinal Muscular Atrophy, Type I |
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Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood |
OMIM:253300 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Epiphyseal stippling, Glossoptosis, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Frontometaphyseal Dysplasia |
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Limited elbow movement, Micrognathia, Short metatarsal, Oligodontia, Spina bifida occulta, Wrist ... |
ORPHA:1826 |
Chromosome 16P13.3 Duplication Syndrome |
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Tented upper lip vermilion, Short neck, Micrognathia, Tracheobronchomalacia, Synophrys, Atrial se... |
OMIM:613458 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septa... |
ORPHA:401935 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Unilateral ptosis, Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteri... |
ORPHA:3304 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Ventricular septal defect, Short neck, Joint stiffness, High, narrow palate, Micrognathia, Cleft ... |
ORPHA:2516 |
Coenzyme Q10 Deficiency, Primary, 7 |
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Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosi... |
OMIM:616276 |
Hadziselimovic Syndrome |
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Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Short stature, Delayed skeletal m... |
OMIM:612946 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Hyperactivity, Lumbar hyperlordosis, Synophrys, Pica, Downturned corners of mouth, Lumbar scolios... |
OMIM:617796 |
Diamond-Blackfan Anemia 6 |
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Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Cleft upper lip, Microg... |
OMIM:612561 |
Coffin-Siris Syndrome 6 |
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Atrial septal defect, Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, High, narrow palat... |
OMIM:617808 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Anal stenosis, Vertebral artery hypoplasia, Block vertebrae, Abnormal odontoid ... |
OMIM:613686 |
Congenital Heart Defects, Multiple Types, 9 |
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Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Apert Syndrome |
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Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Shallow orbits, B... |
OMIM:101200 |
Frontoocular Syndrome |
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Epicanthus, Micrognathia, Blepharophimosis, Narrow philtrum, Upslanted palpebral fissure, High pa... |
OMIM:605321 |
Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
8Q12 Microduplication Syndrome |
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Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Narrow mouth, Short fo... |
ORPHA:228399 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Ventricular septal defect, Short stature, Joint stiffness, Micrognathia, Cleft palate, Tooth agen... |
ORPHA:1166 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... |
OMIM:618316 |
Cleft Palate-Lateral Synechia Syndrome |
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Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia |
ORPHA:2016 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Short stature, Abnormal dental enamel morpho... |
ORPHA:2916 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Knee dislocation, Neonatal death, Vertebral hypoplasi... |
OMIM:108720 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... |
OMIM:617137 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Shallow orbits, Atrial septal defect, Spin... |
OMIM:150250 |
Wiedemann-Steiner Syndrome |
|
Accelerated skeletal maturation, Micrognathia, Synophrys, High palate, Atrial septal defect, Join... |
OMIM:605130 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Death in infancy, Micrognathia, Flexion contracture, Cardiomyopathy, Thin vermilion border, Intra... |
OMIM:608540 |
German Syndrome |
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Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Sy... |
ORPHA:2077 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal def... |
OMIM:616652 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Synophrys, Patent ductus arteriosu... |
OMIM:616368 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Short stature, Joint stiffness, Microdontia, M... |
ORPHA:1915 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis, Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies,... |
ORPHA:2064 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Alazami Syndrome |
|
Short palpebral fissure, Abnormal eating behavior, Postnatal growth retardation, Sparse eyebrow, ... |
ORPHA:319671 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Genu varum, Death ... |
OMIM:274000 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Short stature, Dental crowding, Micrognathia, Oral-pharynge... |
OMIM:610883 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular sept... |
ORPHA:477817 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Atria... |
OMIM:618870 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Epicanthus, Short stature, Patent ductus arteriosus, Cleft palate, Coarctation of ... |
OMIM:615502 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Ventricular septal defect, Micrognathia, Cleft palate, Growth delay, Hypoplastic left... |
ORPHA:1727 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Small hand, Abnormal heart morphology, Scoliosis, Thorac... |
ORPHA:1445 |
Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Anal stenosis, Short humerus, Ventricular septal defect, Aganglionic mega... |
OMIM:607323 |
Maternal Phenylketonuria |
|
Hyperactivity, Epicanthus, Ventricular septal defect, Micrognathia, Esophageal atresia, Bilateral... |
ORPHA:2209 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Thick eyebrow, Short stature, Limited elbow movement, Short neck, Postn... |
OMIM:300590 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Growth delay, ... |
OMIM:244600 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Patent foramen ovale, Joint laxity, Short stature, Delayed skeletal maturat... |
OMIM:157800 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature, Narrow mouth |
OMIM:270460 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Syn... |
OMIM:213980 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Short stature, Intestinal malrotation, Submucous cleft hard palate, Do... |
ORPHA:3426 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft lip, Cleft pa... |
OMIM:616898 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Ventricular septal defect, Short stature, Craniosynostosis, Megarectum, Reduced bloo... |
OMIM:301056 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Cleft palate, Absent or minimally ossified vertebral bodies, Abnormal v... |
ORPHA:66637 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Cleft palate |
OMIM:600331 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Short stature, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, ... |
ORPHA:93946 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Oligodontia, High palate, Short philtrum, Compulsive be... |
OMIM:617061 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Decreased circulating vitamin E concentration, Reduced circulating vitamin A concentration... |
ORPHA:309031 |
Whistling Face Syndrome, Recessive Form |
|
Ptosis, Epicanthus, Telecanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Microg... |
OMIM:277720 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Ventricular sep... |
OMIM:600987 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, ... |
OMIM:249670 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... |
OMIM:249420 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Short neck, Micrognathia, Short thumb, Limit... |
OMIM:618821 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Epicanthus, Short stature, Ventricular septal defect, Sagittal cra... |
OMIM:616901 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Deep philtrum, Knee flexion contracture... |
ORPHA:435638 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Carious teeth, Hemivertebrae, V... |
ORPHA:377 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Short stature, Cleft upper lip, Micrognathia, B... |
OMIM:608572 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Short stature, Sinusitis, Carious teeth, Ab... |
ORPHA:811 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion, ... |
ORPHA:90652 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Epicanthus, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal ... |
ORPHA:1919 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... |
OMIM:122600 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, High palate, Atrial septal defect, Patent foramen ovale, Short stature, ... |
OMIM:270450 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Epicanthus, Short stature, Hyperlordosis, Micrognathia, Aggressive behavior, Almond... |
OMIM:300986 |
Feingold Syndrome 2 |
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Ventricular septal defect, Short stature, Postnatal growth retardation, Short middle phalanx of t... |
OMIM:614326 |
Lessel-Kreienkamp Syndrome |
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Thin upper lip vermilion, Wide cranial sutures, Epicanthus, Bicuspid aortic valve, Aggressive beh... |
OMIM:619149 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Prominence of the premaxilla, Epicanthus, Short stature, Delayed closure of the anterior fontanel... |
OMIM:614886 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Mandibular prognathia, Ventricular septal defect, Highly arched eyebrow, Aplasia/Hypoplasia of th... |
ORPHA:94066 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Downturned corners ... |
OMIM:618974 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Patent foramen o... |
ORPHA:444077 |
Cranioacrofacial Syndrome |
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Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Pentasomy X |
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Short stature, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short... |
ORPHA:11 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
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Death in infancy, Epicanthus, Short stature, Sparse eyelashes, Micrognathia, Pericardial effusion... |
OMIM:620070 |
2Q24 Microdeletion Syndrome |
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Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia, Downslanted palp... |
ORPHA:1617 |
Gombo Syndrome |
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Microphthalmia |
OMIM:233270 |
Abruzzo-Erickson Syndrome |
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Epicanthus, Short stature, Short toe, Cleft palate, Radioulnar synostosis, Atrial septal defect, ... |
ORPHA:921 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
3C Syndrome |
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Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tricuspid... |
ORPHA:7 |
Scimitar Syndrome |
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Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Myhre Syndrome |
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Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... |
OMIM:139210 |
16P12.1P12.3 Triplication Syndrome |
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Unilateral ptosis, Nail-biting, Hyperactivity, Epicanthus, Thick eyebrow, High, narrow palate, Ab... |
ORPHA:485405 |
Desbuquois Syndrome |
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Severe short stature, Genu recurvatum, Camptodactyly of finger, Ventricular septal defect, Short ... |
ORPHA:1425 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Epicanthus, Short stature, Short neck, Kyphosis, Cleft lip, Patent ductus arteriosus, Hemivertebr... |
OMIM:618223 |
Mmep Syndrome |
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Microphthalmia, Median cleft lip, Orofacial cleft |
ORPHA:3434 |
Chromosome 5Q12 Deletion Syndrome |
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Sacral dimple, Epicanthus, Ventricular septal defect, Short neck, Postnatal growth retardation, M... |
OMIM:615668 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short stature, Highly arched ... |
OMIM:617452 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Mandibular prognathia, Short neck, Downturned corners of mouth, High palate, Widely spaced teeth,... |
ORPHA:369891 |
Lujan-Fryns Syndrome |
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Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:776 |
Ciliary Dyskinesia, Primary, 39 |
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Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Down Syndrome |
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Short palm, Atrial septal defect, Atrioventricular canal defect, Patent foramen ovale, Joint laxi... |
OMIM:190685 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Epicanthus, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bon... |
ORPHA:88630 |
19P13.3 Microduplication Syndrome |
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Hyperactivity, Epicanthus, Ventricular septal defect, Telecanthus, Kyphoscoliosis, Micrognathia, ... |
ORPHA:447980 |
Feingold Syndrome Type 2 |
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Jejunal atresia, Ventricular septal defect, Short stature, Short thumb, Short middle phalanx of f... |
ORPHA:391646 |
Polyvalvular Heart Disease Syndrome |
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Abnormal heart valve morphology, Short stature, Dental crowding, Micrognathia, Delayed skeletal m... |
ORPHA:228410 |
Inverted Duplicated Chromosome 15 Syndrome |
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Hyperactivity, Epicanthus, Ventricular septal defect, Aggressive behavior, Synophrys, Self-biting... |
ORPHA:3306 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Short lingual frenulum, Pica, Downturned corners of mouth, Short philtrum, Microdontia, Atrial se... |
OMIM:617360 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Ventricular septal defect, Proportionate short stature, Abnormal repetitive mannerisms, Patent du... |
OMIM:617044 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, Micrognathia, Patent d... |
OMIM:618142 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Anencephaly 2 |
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Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Median cleft palate, Short palpeb... |
OMIM:619452 |
Roifman Syndrome |
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Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Ventricular septal defe... |
OMIM:616651 |
Maxillonasal Dysplasia |
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Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... |
ORPHA:1248 |
Al Kaissi Syndrome |
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Thin upper lip vermilion, Sacral dimple, Epicanthus, Short stature, Macrodontia, Telecanthus, Pos... |
OMIM:617694 |
Coffin-Siris Syndrome 5 |
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Thin upper lip vermilion, Ptosis, Short stature, Thick lower lip vermilion, Wide mouth, Short phi... |
OMIM:616938 |
Hartsfield Syndrome |
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Telecanthus, Non-midline cleft lip, Cleft palate, Microphthalmia, Downslanted palpebral fissures,... |
ORPHA:2117 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Short stature, Dental crowding, Delayed s... |
OMIM:617877 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
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Delayed eruption of teeth, Short stature, Dextrocardia, Camptodactyly of finger, Abnormality of t... |
ORPHA:2863 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Epicanthus, Ventricular septal defect, Short stature, Postnatal growth retardation, Metopic sutur... |
ORPHA:3369 |
Pontocerebellar Hypoplasia, Type 17 |
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Microretrognathia, Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Kyphosis... |
OMIM:619909 |
Diamond-Blackfan Anemia 7 |
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Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus ... |
OMIM:612562 |
Bile Acid Malabsorption, Primary, 2 |
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Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... |
OMIM:171480 |
Oculoauriculofrontonasal Syndrome |
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Ventricular septal defect, Micrognathia, Cleft lip, Upper eyelid coloboma, Cleft palate, Scoliosi... |
ORPHA:398156 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... |
ORPHA:93315 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... |
OMIM:614262 |
Baraitser-Winter Syndrome 2 |
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Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Long p... |
OMIM:614583 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Holoprosencephaly 13, X-Linked |
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Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Vertebral cl... |
OMIM:301043 |
Distal Deletion 15Q |
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Bicuspid aortic valve, Micrognathia, Generalized joint laxity, Abnormal aortic arch morphology, S... |
ORPHA:1596 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... |
OMIM:118100 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Thin upper lip vermilion, Ventricular septal defect, Short stature, Patent ductus arteriosus, Oli... |
OMIM:618330 |
Thomas Syndrome |
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Downslanted palpebral fissures, Oligohydramnios, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
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Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Scoli... |
ORPHA:352641 |
Microcephaly-Cardiomyopathy Syndrome |
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Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... |
ORPHA:2515 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Ventricular septal defect, Dextrocardia, Short stature, Intestinal malrotation, Thoracic aortic a... |
OMIM:619657 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration, Hepat... |
ORPHA:209902 |
Teebi Hypertelorism Syndrome 1 |
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Thin upper lip vermilion, Natal tooth, Short stature, Ventricular septal defect, Sagittal cranios... |
OMIM:145420 |
Contractural Arachnodactyly, Congenital |
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Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, High palat... |
OMIM:121050 |
Atelis Syndrome 1 |
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Ventricular septal defect, Carious teeth, Lumbar kyphosis, High palate, Attention deficit hyperac... |
OMIM:620184 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
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Hyperextensibility of the finger joints, Sacral dimple, Thin upper lip vermilion, Limb joint cont... |
ORPHA:505237 |
Apert Syndrome |
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Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hy... |
ORPHA:87 |
Trigonocephaly With Short Stature And Developmental Delay |
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Epicanthus, Ventricular septal defect, Short stature, Sagittal craniosynostosis, High palate, Bro... |
OMIM:314320 |
Braddock-Carey Syndrome 2 |
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Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Downslanted palpebral fissures |
OMIM:619981 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, M... |
OMIM:607155 |
Partial Atrioventricular Septal Defect |
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Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
8p23.1 deletion syndrome |
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Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
Kabuki Syndrome 2 |
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Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Joint laxity, Sho... |
OMIM:300867 |
Emanuel Syndrome |
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Congenital hip dislocation, Multiple joint contractures, Dental crowding, Hooded eyelid, Microgna... |
ORPHA:96170 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Epicanthus, Kyphoscoliosis, ... |
OMIM:620075 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Joint dislocation, Ventricular septal defect, Short stature, Joint stiffness, Postnatal growth re... |
OMIM:620210 |
Waardenburg Syndrome Type 3 |
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Atrial septal defect, Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Joint sti... |
ORPHA:896 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Micrognathia, Postnatal growth retardation, Contracture of the distal interphalangeal... |
ORPHA:83617 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Postnatal growth retarda... |
OMIM:619184 |
Joubert Syndrome 18 |
|
Joint laxity, Trident pelvis, Ventricular septal defect, Kyphoscoliosis, Cleft palate, Lobulated ... |
OMIM:614815 |
Noonan Syndrome 11 |
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Short stature, Thick vermilion border, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:618499 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Short neck, Reduced bone mineral density, Wide mouth, P... |
OMIM:615279 |
Congenital Heart Defects, Multiple Types, 4 |
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Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Hypercholanemia, Familial, 2 |
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Low levels of vitamin D, Prolonged neonatal jaundice |
OMIM:619256 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Short stature, Short lingual frenulum, Anomalous origin of left coronary artery from ... |
ORPHA:2326 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Compulsive behaviors, Bifid uvula, High... |
ORPHA:404440 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... |
OMIM:268310 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac... |
ORPHA:97360 |
Noonan Syndrome 13 |
|
Short neck, Micrognathia, High palate, Widely spaced teeth, Microdontia, Atrial septal defect, Jo... |
OMIM:619087 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Down... |
ORPHA:217017 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Short stature, Micromelia, Genu valgum, Joint hyperflexibility, High palate, Atrial septal defect... |
ORPHA:1035 |
Tetrasomy 15Q26 |
|
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, High palate... |
OMIM:614846 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow... |
ORPHA:329224 |
Carpal Tunnel Syndrome 1 |
|
Reduced circulating vitamin B6 level |
OMIM:115430 |
20P12.3 Microdeletion Syndrome |
|
Epicanthus, Short stature, Hypoplasia of the maxilla, Narrow mouth, Atrial septal defect, Malar f... |
ORPHA:261295 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Epicanthus, Thick eyebrow, Ventricular septal defect... |
OMIM:618950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Hyperactivity, V... |
OMIM:309520 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Short neck, Synophrys, Vertebral clefting, Coronal c... |
OMIM:616854 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Sagi... |
OMIM:615879 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... |
OMIM:241310 |
Pierpont Syndrome |
|
Smooth philtrum, Telecanthus, Unilateral narrow palpebral fissure, Prominent median palatal raphe... |
OMIM:602342 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, High, narrow palate, Cleft palat... |
OMIM:618494 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Sagittal cran... |
ORPHA:2872 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Epicanthus, Perimembranous ventricular septal defect, High palate, Widely spaced te... |
OMIM:618205 |
Braddock-Carey Syndrome 1 |
|
Telecanthus, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Pierre-Robin sequen... |
OMIM:619980 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Ptosis |
OMIM:147800 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Synophrys, Epicanthus inversus, Atrial septal defec... |
OMIM:257920 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi... |
OMIM:203500 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Joi... |
OMIM:609029 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Narrow palpebral fissure, Thin vermilion ... |
ORPHA:487825 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Micrognathia, Deep phil... |
OMIM:619720 |
Phaver Syndrome |
|
Epicanthus, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short thumb, Hyp... |
ORPHA:2876 |
17Q12 Microduplication Syndrome |
|
Synophrys, Tracheoesophageal fistula, Cleft palate, Self-injurious behavior, Atrial septal defect... |
ORPHA:261272 |
Carpenter Syndrome 1 |
|
Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Spina bif... |
OMIM:201000 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Blepharophimosis, Elbow fle... |
OMIM:610758 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Epicanthus, Short stature, Ventricular septal defect... |
ORPHA:457193 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, Microphthalmia |
OMIM:613456 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Short stature, Sagittal craniosynostosis, Micrognathia, Sparse eyebrow, Small hand, C... |
ORPHA:459061 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Hooded eyelid, Limited elbow movement, Short neck, Micrognathia, Synophrys... |
OMIM:610759 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... |
OMIM:184460 |
Formiminoglutamic Aciduria |
|
Abnormal circulating enzyme concentration or activity, Increased blood folate concentration, Abno... |
ORPHA:51208 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased cal... |
ORPHA:2772 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Hyperactivity, Epicanthus, Ventricular septal defect, Short stature, Bi... |
OMIM:618027 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Thick vermilion border, Pulmonic stenosis, Long... |
ORPHA:251076 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Sto... |
OMIM:612852 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Elevated hepatic transaminase, Portal hypertension, Celiac disease, Jaundi... |
ORPHA:171 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital cyst, Cleft palate, Eyelid coloboma, Microphthalmia |
OMIM:164180 |
Abetalipoproteinemia |
|
Osteopenia, Kyphoscoliosis, Cardiomegaly, Low levels of vitamin D, Decreased circulating vitamin ... |
ORPHA:14 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Atrial septal defect, Medial flaring o... |
OMIM:617602 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, Bilat... |
OMIM:619542 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Highly arched eyebrow, Aggressive behavior, Dias... |
OMIM:615009 |
Tyshchenko Syndrome |
|
Short stature, Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High ... |
OMIM:615102 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Proportionate short stature, Cle... |
OMIM:609654 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
Noonan Syndrome 7 |
|
Epicanthus, Short stature, Short neck, Dysphagia, Growth delay, Abnormal esophagus morphology, Th... |
OMIM:613706 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Synophrys, High palate, Short philtrum, Abnor... |
OMIM:619312 |
8P23.1 Microdeletion Syndrome |
|
Abnormal aortic morphology, Epicanthus, Short stature, Short neck, Micrognathia, Patent ductus ar... |
ORPHA:251071 |
Intellectual Disability-Strabismus Syndrome |
|
Short neck, Micrognathia, Synophrys, High palate, Atrial septal defect, Hyperactivity, Short stat... |
ORPHA:363528 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Microphthalmia, Syndromic 13 |
|
Ptosis, Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hooded eyelid, High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High pa... |
OMIM:612863 |
Rhizomelic Syndrome, Urbach Type |
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Abnormality of the knee, Short stature, Rhizomelia, Short neck, Micrognathia, Kyphosis, Limitatio... |
ORPHA:3098 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Synophrys, Downturned corners ... |
OMIM:618067 |
Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, ... |
OMIM:619339 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Omodysplasia 1 |
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Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, P... |
OMIM:258315 |
Basal Cell Nevus Syndrome 1 |
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Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef... |
OMIM:109400 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Rhizomelia, Ventricular septal defect, Short neck, Micrognathia, Downturned corners of mouth, Pla... |
ORPHA:93267 |
Kbg Syndrome |
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Short palm, Vertebral fusion, Telecanthus, Tented upper lip vermilion, Short stature, Macrodontia... |
OMIM:148050 |
Brachytelephalangic Chondrodysplasia Punctata |
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Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... |
ORPHA:79345 |
White Forelock With Malformations |
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Epicanthus, Delayed skeletal maturation, Deep philtrum, Joint hyperflexibility, Atrial septal def... |
ORPHA:2475 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Epicanthus, Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect, Thin... |
ORPHA:363444 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Telecanthus, Short femur, Fractured radius, Ventricular septal defect, Short neck, Mu... |
OMIM:616897 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Joint laxity, Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyeb... |
OMIM:617751 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Short stature, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphyseal ossification, Fibu... |
ORPHA:166016 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Short neck, Abnormal repetitive mannerisms, Self-mutilation, S... |
OMIM:212066 |
Osteoporosis, Juvenile |
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Low serum calcitriol, Osteoporosis |
OMIM:259750 |
17Q23.1Q23.2 Microdeletion Syndrome |
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Sacral dimple, Epicanthus, Short stature, Malar flattening, Highly arched eyebrow, Patent ductus ... |
ORPHA:261279 |
Xk Aprosencephaly Syndrome |
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Microphthalmia, Polyhydramnios, Anal atresia, Narrow mouth |
ORPHA:3469 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular... |
ORPHA:1782 |
Holt-Oram Syndrome |
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Ventricular septal defect, Joint stiffness, Absent thumb, Kyphosis, Patent ductus arteriosus, Ano... |
ORPHA:392 |
Wolf-Hirschhorn Syndrome |
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Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
Craniofaciofrontodigital Syndrome |
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Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger jo... |
ORPHA:363705 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventric... |
OMIM:619343 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Short neck, Accelerated skeletal maturation, Cardiomegaly, Mic... |
OMIM:245600 |
Heterotaxy, Visceral, 5, Autosomal |
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Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina... |
OMIM:270100 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Ventricular septal defect, Short neck, Protruding tongue, Patent ductus arteriosus, Alveolar ridg... |
OMIM:612938 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... |
OMIM:617616 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteri... |
ORPHA:2655 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Epicanthus, Short stature, Short neck, Sparse eyebrow, Wide mouth, Thick v... |
OMIM:611553 |
15Q14 Microdeletion Syndrome |
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Short stature, Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, S... |
ORPHA:261190 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
Oculofaciocardiodental Syndrome |
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Oligodontia, Fused teeth, Highly arched eyebrow, Short thumb, Patent ductus arteriosus, Flexion c... |
ORPHA:2712 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal size of the palpebral fi... |
ORPHA:500159 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the wrist, Synostosis of carpal bon... |
ORPHA:2496 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Hyperactivity, Epicanthus, Ventricular septal defect, Craniosynostosis, Short neck, K... |
ORPHA:254346 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Dental crowding,... |
OMIM:612582 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of p... |
OMIM:618506 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Ventricular septal defect, Short stature, Craniosynostosis, Rhizomelia, Micrognathia,... |
OMIM:614114 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Short philtrum, Widely spaced teeth, Highly arched eyebrow, Cleft lip, Pulmonary artery stenosis,... |
OMIM:280000 |
Chromosome 9P Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... |
OMIM:158170 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Short stature, Delayed skeletal maturation, Growth delay, Atrial septal de... |
OMIM:617744 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Thick eyebrow, Proportionate short stature, Kyphoscoliosis, Aggressive beh... |
ORPHA:404443 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the ... |
ORPHA:79113 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l... |
OMIM:102500 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal defect, Patent foramen ova... |
OMIM:615582 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Noonan Syndrome 4 |
|
Epicanthus, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Bilateral ptosi... |
OMIM:610733 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Aggressive behavior, Lower extremity joint dislocation, Deep philtrum,... |
ORPHA:163956 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial septal defect, Co... |
OMIM:300166 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Short neck, Downturned corners of mouth, Short philtrum, Atrial septal def... |
OMIM:601808 |
White-Sutton Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Downturned corners of mouth, Short philtrum, Hig... |
OMIM:616364 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Ventricular septal defect, ... |
ORPHA:85194 |
Monosomy 18P |
|
Epicanthus, Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum,... |
ORPHA:1598 |
Noonan Syndrome 2 |
|
Epicanthus, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short st... |
OMIM:605275 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Micrognathia, Head-banging, Delayed eruption of permanent teeth, Nar... |
OMIM:619356 |
Noonan Syndrome 8 |
|
Epicanthus, Ventricular septal defect, Short stature, Short neck, Patent ductus arteriosus, Pulmo... |
OMIM:615355 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Van Esch-O'Driscoll Syndrome |
|
Downturned corners of mouth, Shallow orbits, Atrial septal defect, Spina bifida occulta, Abnormal... |
OMIM:301030 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Epicanthus, Telecanthus, Postnatal growth retardation, Hypoplasia of the maxilla, ... |
ORPHA:251061 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Short thumb, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:1120 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosus, C... |
ORPHA:1790 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Death in infancy, Mitral stenosis, Camptodactyly of finger, Ventricular septal... |
ORPHA:2008 |
Temple-Baraitser Syndrome |
|
Epicanthus, Wide mouth, Downturned corners of mouth, Thick vermilion border, Pulmonic stenosis, L... |
OMIM:611816 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:613870 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Short stature, Submucous cleft hard palate, Periarticular soft-tissue mass, ... |
OMIM:601492 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Po... |
OMIM:300963 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Short stature, Highly arched eyebrow, Long philtrum, Atrial septal defec... |
OMIM:300887 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Blepharophimo... |
OMIM:608149 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Joint laxity, Ventricular septal defect, Wide mouth, Scoliosis, Thin eyebrow, Intrauterine growth... |
OMIM:617635 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Ventricular septal defect, Micrognathia, Postnatal growth retardation, Blepharophimos... |
ORPHA:494344 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Mandibular prognathia, Prominent metopic ridge, Bicuspid aortic valve, Short statur... |
OMIM:619721 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Aggressive behavior, Aortic root aneurysm, Short philtru... |
OMIM:301039 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Reduced dihydropyrimidine dehydrogenase level |
OMIM:274270 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Lumbar hyperlordosis, Congenital hip dislocation, Short ... |
OMIM:609625 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Downturned corners... |
OMIM:618652 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Death in infancy, Hypoplasia of the ulna, Highly arched eyebrow, Microg... |
OMIM:619135 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Tics, Compulsive behaviors, Short palm, Atrial septal defect, Branchial fist... |
ORPHA:261330 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,... |
OMIM:211380 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ... |
OMIM:235510 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Epicanthus, Ventricular septal defect, Sh... |
ORPHA:1908 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Vertebral segmentation defect, Ol... |
ORPHA:453499 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Lambert Syndrome |
|
Ventricular septal defect, Wide mouth, Branchial anomaly, Intrauterine growth retardation, Malar ... |
ORPHA:1296 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Self-injurious behavi... |
ORPHA:261183 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Postnatal growth retardation, Decreased circulating vitamin E concentration, Reduc... |
ORPHA:96180 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... |
OMIM:619472 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Atrial septal defect, Dislocated radial hea... |
OMIM:605039 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Micrognathia, Delayed skeletal maturation, Patent ductus arteriosus, Decr... |
OMIM:614857 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect... |
OMIM:619239 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Non-midline cleft lip, Upper eyelid coloboma, Cleft palate, Absent... |
ORPHA:1791 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Highly arched eyebrow, Aggressive behavior, Secundum atrial septal defe... |
OMIM:619121 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Tongue thrusting, Smooth philtrum |
OMIM:620393 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Upslanted palpebral fissure, Widely spaced teeth, Long palpebral fissure, Microdontia, Microphtha... |
OMIM:619694 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Trisomy 17P |
|
Short neck, Micrognathia, Flexion contracture, Orofacial cleft, High palate, Prominent metopic ri... |
ORPHA:261290 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Short stature, Aggressive behavior, Hypoplasia of the ma... |
ORPHA:293939 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Accelerated skeletal maturation, Short neck, H... |
ORPHA:373 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Microphthalmia, High palate, Cleft palate |
ORPHA:1135 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Ventricular septal defect, Dental... |
ORPHA:2789 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Almond-shaped palpebral fissure, Epiblepharon, ... |
OMIM:619103 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Lumbar ... |
OMIM:114300 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Epicanthus, Short... |
ORPHA:959 |
Weill-Marchesani Syndrome |
|
Short stature, Ventricular septal defect, Short thumb, Limitation of joint mobility, Pulmonic ste... |
ORPHA:3449 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Short stature, Delayed skeletal maturation, Wide mouth, Upslanted palpe... |
OMIM:617982 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... |
OMIM:272460 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Aggressive behavior, C... |
ORPHA:284169 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Telecanthus, Dental crowding, Narrow mouth, Mi... |
OMIM:615539 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Ventricular septal defect, Short stature, Micrognathia, Esophageal atres... |
OMIM:610536 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Short p... |
ORPHA:193 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Contracture of the proximal i... |
OMIM:300998 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Microdontia, Abnormal cerebral vascular morphology, Vascular dilatation, Delayed skel... |
ORPHA:2637 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Atri... |
OMIM:117650 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Decreased circulating calcifediol concentrat... |
OMIM:214950 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, High palate, Sho... |
ORPHA:251028 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Ventricular septal defect, Microgna... |
ORPHA:52 |
Grange Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Increased susceptibility ... |
ORPHA:79094 |
Lambotte Syndrome |
|
Telecanthus, Ventricular septal defect, Narrow mouth, Intrauterine growth retardation, Retrognathia |
OMIM:245552 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Epicanthus, Overriding aorta, Ventricular septal defect, Telecanthus, P... |
OMIM:601927 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Macrodontia, Dental malocclusion, Narrow palate, Upslanted palpebral fissure, Long ey... |
OMIM:617883 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Ventricular septal defect, Short stature, Micrognathia, Blepharophimosis, P... |
OMIM:601186 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Hypoplasia of the ulna, Micrognathia, Hypoplasia of the radius... |
OMIM:212780 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Aortopulmonary collateral arteries, Malar flattening, Abnormality of the dentition, ... |
OMIM:617557 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Short neck, Li... |
OMIM:615065 |
Distal Triplication 15Q |
|
Telecanthus, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Flexion contract... |
ORPHA:314588 |
Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Ptosis, Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Microphthalmia, Isolated 8 |
|
Entropion, Anophthalmia, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr... |
OMIM:615113 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Esophageal var... |
OMIM:614576 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Epicanthus, Tented upper lip vermilion, Telecanthus, Thick eyebrow, Delayed skeletal maturation, ... |
OMIM:619383 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Hyperl... |
OMIM:617450 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Rhizomelia, Micromelia, Short neck, Patent ductus arteriosus, Abnormality of t... |
ORPHA:1842 |
Kury-Isidor Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Short neck, Growth delay, H... |
OMIM:619762 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Sparse eyebrow, Cleft lip, Deep philtrum, Syn... |
OMIM:620098 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Epicanthus, Hype... |
ORPHA:2780 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Deep philtrum, Synophrys, Downturned corners of mouth, Vertebral segmen... |
ORPHA:251014 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Epicanthus, Ventricular septal defect, Downslanted palpebral fissures, Smooth philtrum |
OMIM:602501 |
Cat Eye Syndrome |
|
Micrognathia, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anomalous pulm... |
OMIM:115470 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Telecanthus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narr... |
OMIM:202650 |
Vitamin D-Dependent Rickets, Type 3 |
|
Low serum calcitriol, Elevated circulating alkaline phosphatase concentration, Decreased circulat... |
OMIM:619073 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Abnormal eyelash morph... |
ORPHA:3378 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:457279 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short ... |
OMIM:617022 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short stature, Short metatarsal, Short 4th metacarpal |
OMIM:113301 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormal eyelid morphology, Abnormality of the dentition, Abnormal eyelash morp... |
ORPHA:1794 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ptosis, Epicanthus, Ventricular septal defect, Patent ductus arteriosus... |
OMIM:220500 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Epicanthus, Lymphedema, Deep philtrum, Thick lower lip vermilion, Upsla... |
OMIM:152950 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Ventricular septal defect, Short stature, Accelerated skeletal maturati... |
OMIM:617164 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Epicanthus, Tented upper lip vermilion, High palate, Short philtrum, Long... |
OMIM:614105 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, High palate, Compulsive beh... |
ORPHA:93932 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Patent ductus arteriosus, Flexion contracture, Dysphagia, Arthrogryp... |
OMIM:616867 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Accelerated skeletal maturation,... |
OMIM:618798 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Long philtrum, Scoliosis, Reduced bone mineral density |
ORPHA:466926 |
Coffin-Siris Syndrome 4 |
|
Short philtrum, Atrial septal defect, Pulmonary artery atresia, Short stature, Delayed skeletal m... |
OMIM:614609 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Disproportionate short ... |
OMIM:222765 |
Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Abnormal sacrum morphology, Cleft palate, Vertebral segm... |
ORPHA:1926 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Thick eyebrow, Short stature, Intestinal malrotation, Highly arched eye... |
OMIM:614701 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct... |
OMIM:613680 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Autosomal Recessive Polycystic Kidney Disease |
|
Portal hypertension, Jaundice, Low levels of vitamin D, Esophageal varix, Decreased circulating v... |
ORPHA:731 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Short thumb, Cleft palate, Glossoptos... |
ORPHA:436003 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Tetralogy o... |
OMIM:136760 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Epicant... |
ORPHA:40366 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... |
ORPHA:96167 |
Distal Deletion 6P |
|
Epicanthus, Abnormality of the dentition, Micrognathia, Orofacial cleft, Downturned corners of mo... |
ORPHA:96125 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Dysphagia, Atrial septal defect, Intrauterine growth retardation, Patent foram... |
ORPHA:89844 |
Caudal Regression Syndrome |
|
Impulsivity, Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hy... |
ORPHA:3027 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar ... |
OMIM:618164 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Spinal canal stenosis, Anteriorly placed anus, Tetra... |
OMIM:618624 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Dysphagia, Cervical C2/C3 vertebral fusion, Ante... |
ORPHA:268882 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Anorexia, Stroke, Atrial septal defect |
ORPHA:49827 |
Intrinsic Factor Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Vitamin B12 deficiency, Malabsorption ... |
OMIM:261000 |
Transketolase Deficiency |
|
Ventricular septal defect, Proportionate short stature, Abnormal coronary artery course, Abnormal... |
ORPHA:488618 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, Microphthalmia |
OMIM:613885 |
Filippi Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Thin vermilion border, Short philtrum, H... |
OMIM:272440 |
Temtamy Syndrome |
|
Microphthalmia, Telecanthus, Thick lower lip vermilion, Abnormal palate morphology |
ORPHA:1777 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Aggressive behavior, Secundum atrial septal defect, Contracture of the p... |
OMIM:618109 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, As... |
OMIM:619503 |
Tarp Syndrome |
|
Meckel diverticulum, Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Cleft palate, T... |
OMIM:311900 |
Opitz Gbbb Syndrome |
|
Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Patent foramen ov... |
ORPHA:2745 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Cleft palate, Atrial... |
OMIM:614261 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Atrial se... |
ORPHA:261323 |
Stevenson-Carey Syndrome |
|
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Scoliosis, Camptodactyly, Atria... |
OMIM:611961 |
Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion, Death in infancy |
ORPHA:1466 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Short neck, Elbow dislocation, ... |
ORPHA:99776 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Limb underg... |
OMIM:618005 |
1Q44 Microdeletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Short stature, Exaggerated cupid's bow, Intestinal malrotati... |
ORPHA:238769 |
Transaldolase Deficiency |
|
Ventricular septal defect, Short neck, Deep philtrum, Synophrys, Patent ductus arteriosus, Coarct... |
OMIM:606003 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Multiple prenatal fractures, Secundum atrial septal defect, Patent ductus arte... |
OMIM:616866 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Proportionate short stature, Trismus, Deep philtrum, Hyperextensible hand joint... |
OMIM:227330 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion contracture, Vascular ring,... |
OMIM:603387 |
Buratti-Harel Syndrome |
|
Epicanthus, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Submucous cleft hard ... |
OMIM:619314 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Short stature, Missing ribs, Postnatal growth retard... |
OMIM:206900 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymph... |
OMIM:153400 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Short neck, Cleft upp... |
OMIM:244300 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Joint laxity, Tented upper lip vermilion, Highly arched eyebrow, Wide mouth, Atrial septal defect... |
ORPHA:500533 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Short stature, Recurrent fractures, Reduced bone mineral density, Sc... |
OMIM:619115 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Atrial septal defect, Sparse eyebrow, Smooth philtrum, Spa... |
OMIM:611174 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Short stature, Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, Hig... |
ORPHA:52055 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Abnormality of the dentition, Micrognathia, Spinal canal stenosis, High palate, Pu... |
OMIM:618282 |
Sotos Syndrome |
|
Joint laxity, Mandibular prognathia, Ventricular septal defect, Accelerated skeletal maturation, ... |
OMIM:117550 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Micrognathia, Pyloric stenosis, Abnormal repetitive mannerisms, C... |
ORPHA:261197 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Downslanted palpebral ... |
OMIM:614526 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Epicanthus, Ventricular septal defect, Shor... |
OMIM:211750 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Upslanted palpebral fissure,... |
ORPHA:75389 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Joint laxity, Hyperactivity, Delayed skele... |
ORPHA:1465 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Joint stiffness, Synophrys, Long eyelashes... |
OMIM:614961 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Micrognathia, Glossoptosis, High palate, Bifid uvula, Joint laxity... |
OMIM:616145 |
Meacham Syndrome |
|
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Short stature, Ventricular septal defect, Dextrocardia, Crani... |
ORPHA:96097 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Epicanthus, Dilation of Virchow-Robin spaces, Highly arched eyebrow, Abnormal card... |
ORPHA:261311 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalm... |
OMIM:607597 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Ventricular septal defect, Short stature, Postnatal... |
OMIM:620113 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Kyphosis, Cleft palate, Furrow... |
OMIM:616449 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Downturned c... |
ORPHA:261494 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o... |
OMIM:608670 |
Filippi Syndrome |
|
Severe short stature, Ventricular septal defect, Short stature, Delayed skeletal maturation, Limi... |
ORPHA:3255 |
Noonan Syndrome 10 |
|
Epicanthus, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Patent ductus a... |
OMIM:616564 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen... |
OMIM:617506 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Aggressive behavior, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s... |
OMIM:300967 |
Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Short neck, Sparse eyebrow, Coarctation of aorta, Pulmo... |
OMIM:616559 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Marden-Walker Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal anatomic location of t... |
ORPHA:2461 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Ptosis, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Micrognathia, Nar... |
ORPHA:1323 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Postnatal growth retardation, Blepharophimosis, Cleft palate, Hypoplasia of teeth, W... |
ORPHA:2728 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Patent ductus arte... |
ORPHA:2970 |
Cat-Eye Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Anal atresia |
ORPHA:195 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Microphthalmia, Jaundice, Ascites |
ORPHA:858 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Bone pain, Downturned co... |
ORPHA:955 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Short philtrum, High palate, Atr... |
ORPHA:96121 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Missing ribs, Reduced bone min... |
ORPHA:1488 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Low levels of vitamin D, Elevated circulating alanine aminotransferase concentration, Elevated ci... |
OMIM:617308 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Thick eyebrow, Genu recurvatum, Thoracolumbar scoliosis, Kyphoscoliosis, Recur... |
ORPHA:230851 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Agangli... |
OMIM:174300 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a... |
ORPHA:2001 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Short stature, Submucous cleft hard palate, Aortic valve stenosis, Hypopla... |
OMIM:617660 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Sp... |
OMIM:300373 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Telecanthus, Dental crowding, Palpebral edema, Kyphoscoliosis, De... |
ORPHA:397709 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Almond-shaped palpebral fissure, Downturned corners of mouth, Atrial se... |
ORPHA:521308 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Periphera... |
OMIM:614749 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Exaggerate... |
OMIM:618619 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Genu varum, Incre... |
ORPHA:289176 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:261236 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Zaki Syndrome |
|
Sacral dimple, Short stature, Micrognathia, Sparse eyebrow, Patent ductus arteriosus, Wide mouth,... |
OMIM:619648 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Ventricular septal defect, C... |
OMIM:612530 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophry... |
ORPHA:364577 |
Al-Raqad Syndrome |
|
Joint laxity, Atrial septal defect, Thin upper lip vermilion, Narrow mouth |
OMIM:616459 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Telecanthus, Ventricular septal defect, Micrognathia, Short neck, Short distal ... |
OMIM:620073 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Neonatal death, Atrial septal defect, Absent eyelashes, Ankylo... |
OMIM:275210 |
Houge-Janssens Syndrome 3 |
|
Epicanthus, Muscular ventricular septal defect, Self-injurious behavior, High palate, Short philt... |
OMIM:618354 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilater... |
ORPHA:2189 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Epicanthus, Aggressive behavior, Secundum atrial septal ... |
OMIM:620242 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short stature... |
OMIM:614294 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short stature, Micrognathia, Blepharophimosi... |
OMIM:300712 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Epicanthus, Congenital hip dislocation, Ventricular septal defect, Ovoi... |
OMIM:244450 |
Giant Cell Arteritis |
|
Pericarditis, Anorexia, Joint stiffness, Vasculitis, Arthritis, Aortic dissection, Glossitis, Abd... |
ORPHA:397 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Kyphosis, Cleft lip, Cleft palate, Upslanted palpebral f... |
OMIM:619123 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Join... |
ORPHA:93274 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enlargement of the ankles, Epicanthus, Recurrent fractures, Carious te... |
OMIM:277440 |
Marbach-Rustad Progeroid Syndrome |
|
Prominent superficial veins, Short stature, Delayed eruption of primary teeth, Micrognathia, Vent... |
OMIM:619322 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla... |
ORPHA:2717 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short distal phalanx of toe, Epicanthus, Abnormal mitral valve morphology, Short stature, Delayed... |
ORPHA:1292 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Micrognathia, Kyphosis, Osteoarthritis, Submucous cleft hard palate... |
OMIM:108300 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Short stature, Miscarriage, Absent thumb, Short thumb, Rectal atresia, Hypoplas... |
OMIM:613390 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Atrial septal defect, ... |
ORPHA:289 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Intestinal lymphangiectasia, Pleural effusion, Abnormal small intest... |
ORPHA:90362 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Exagger... |
ORPHA:464738 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p... |
OMIM:619143 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Impulsivity, Micrognathia, Aggressive behavior, Abnormal repetitive manner... |
OMIM:618914 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Secundum atrial septal defect, Pierre-Ro... |
OMIM:620183 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned... |
ORPHA:352665 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... |
OMIM:600373 |
Warburg Micro Syndrome 1 |
|
Ptosis, Microphthalmia, Thin vermilion border, Narrow mouth |
OMIM:600118 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Sparse eyelashes, Cleft upper lip, Conical t... |
OMIM:106260 |
Galloway-Mowat Syndrome 7 |
|
Short stature, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Cleft lip, Dilated cardio... |
OMIM:618348 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Short stature, Short neck, Secundum atrial septal defect, Protruding tongue, Mi... |
OMIM:608779 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Thick lower lip vermilion, Wide mouth, Atrial septal defect, Open mouth, Thick uppe... |
OMIM:611087 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short stature, Short neck, Short middle phalanx of the... |
OMIM:617926 |
Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Telecanthus, Abnormality of the dentition, Conical tooth, Upslanted palpebral fissure, Microphtha... |
ORPHA:228390 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Death in childhood, Atrial sept... |
OMIM:309500 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patellar hyp... |
ORPHA:2257 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy... |
OMIM:154400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Wide mouth, Macroglossia, Upslanted palpebral fissure, Everted lower lip vermilion, T... |
OMIM:616789 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Orofacial cleft, Wi... |
OMIM:243310 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Orofacial cleft |
ORPHA:324416 |
Warsaw Breakage Syndrome |
|
Epicanthus, Ventricular septal defect, Postnatal growth retardation, Wide mouth, High palate, Int... |
OMIM:613398 |
Fibrochondrogenesis 1 |
|
Short palm, Hypoplastic scapulae, Rhizomelia, Short neck, Narrow mouth, Small hand, Cleft palate,... |
OMIM:228520 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Abnormal cardiac ventricle mor... |
ORPHA:2306 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Hig... |
OMIM:115150 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Blepharophimosis, Hypop... |
ORPHA:233 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Short palm, Patent f... |
ORPHA:457395 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Hyperactivity, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb,... |
OMIM:617516 |
Distal Deletion 10Q |
|
Micrognathia, Short metatarsal, High palate, Atrial septal defect, Spina bifida occulta, Prominen... |
ORPHA:96148 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Dehydration, Death in childhood, Thin vermilion border,... |
OMIM:214150 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Growth delay, Short stature, Attention deficit hyperactivity disorder |
OMIM:620211 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, High serum calcitriol, Rickets, Genu varum, Genu valgum, Sparse ... |
OMIM:600785 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Cleft soft palate, Short stature, Abnormality of the dentition, Micrognath... |
OMIM:618529 |
Imerslund-Grasbeck Syndrome 1 |
|
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration |
OMIM:261100 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Ventricular septal defect, Postnatal growth retar... |
ORPHA:276432 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Orofacial cleft, High palate, Micr... |
OMIM:618804 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Ather... |
OMIM:614008 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet... |
OMIM:615873 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Joint stiffness, Micrognathia, Hypoplasi... |
ORPHA:245 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Ptosis, Telecanthus, Micrognathia, Cuboid-shaped vertebral bodi... |
OMIM:612731 |
Den Hoed-De Boer-Voisin Syndrome |
|
Widely spaced teeth, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Stereotypical hand ... |
OMIM:619229 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Abnormal nasolacrimal s... |
ORPHA:3047 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Camptodactyly of finger, Joint hyp... |
OMIM:619951 |
Megalencephaly |
|
Atrial septal defect, Delayed skeletal maturation, Genu valgum, Short neck |
ORPHA:2477 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Epicanthus, Abnormality of the philtrum, Ventricular septal defect, Short stature, Delayed skelet... |
ORPHA:1770 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Atrial septal defec... |
OMIM:214800 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Hypoplastic pulm... |
OMIM:618021 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b... |
OMIM:610253 |
Woods Syndrome |
|
Ventricular septal defect, Thin vermilion border, Limited elbow extension |
OMIM:615236 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Short neck, Absent thumb, Esophageal atresia, Patent... |
OMIM:300514 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Kyphosis, Gingival overgrowth, Upper lim... |
OMIM:169400 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification... |
OMIM:271640 |
Diamond-Blackfan Anemia 9 |
|
Low levels of vitamin D |
OMIM:613308 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Congenital hip dislocation, Short stature, Epicanthus, Micrognathia, Low levels of... |
OMIM:617052 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Neonatal death... |
OMIM:265380 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Prader-Willi Syndrome Due To Translocation |
|
Short neck, Micrognathia, Downturned corners of mouth, High palate, Compulsive behaviors, Patent ... |
ORPHA:177907 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Thin upper lip vermilion, Epicanthus, Short stature, Dextrocardia, Stomat... |
OMIM:277380 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
Costello Syndrome |
|
Epicanthus, Ventricular septal defect, Short stature, Abnormal dental enamel morphology, Short ne... |
ORPHA:3071 |
X Small Rings |
|
Joint laxity, Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal def... |
ORPHA:96201 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Low serum calcitriol, Enlargement of the ankles, Decreased circulating... |
OMIM:264700 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Dental crowding, Synophrys, Downturned corners of mouth, Short philtrum, Widel... |
OMIM:301044 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Thick eyebrow, Ventricular septal defect, Epicanthus, Palpebral edema, Micrognathi... |
OMIM:606232 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Atrial septal defect, Spi... |
OMIM:105650 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Low serum calcitriol, Short stature, Osteoporosis, Increased susceptibi... |
ORPHA:2788 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Ventricular septal defect, Short neck, Micrognathia, ... |
OMIM:235255 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum, Cleft palate, High pal... |
OMIM:206920 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... |
ORPHA:2256 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventric... |
OMIM:264480 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Abnormality of the knee, Arterial calcification, Medial calcification of... |
ORPHA:51608 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Highly arched eyebrow, Short neck, Secundum atrial septal defect, Abnormality of t... |
OMIM:615802 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial ... |
OMIM:249270 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Generalized Eruptive Histiocytosis |
|
Abnormal vitamin B12 level, Elevated total serum tryptase |
ORPHA:157991 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Synophrys, Hypoplastic coccygeal... |
OMIM:619512 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Ankyloblepharon, Lip pit |
ORPHA:1072 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Epicanthus, Short stature, Micrognathia, Blepharophimosis, Patent ductus arteriosu... |
ORPHA:251066 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... |
OMIM:617140 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Join... |
OMIM:277600 |
Noonan Syndrome 3 |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Short stature, Sagittal craniosynost... |
OMIM:609942 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Shor... |
ORPHA:354 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Ptosis, Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
Monosomy 18Q |
|
Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, High palate, S... |
ORPHA:1600 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Thoracic scoliosis, Short humerus, Ventricular septal defect, Aplasia of ... |
OMIM:142900 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Short stature, Dextrotransposition of the great arterie... |
OMIM:619995 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Micrognathia, Kyphosis, Dilated cardiomyopathy,... |
ORPHA:261250 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Micrognathia, Atrial septal defect, Arthrogryposis m... |
OMIM:208085 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Eyelid colobom... |
ORPHA:1104 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Narrow mouth, Cleft palate, Upslanted palpebral fissure, High palate, Long philtrum, ... |
OMIM:156610 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Short metacarpal, Short stature, Ventricular septal defect, Craniosynostosis, Mic... |
ORPHA:166035 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Sacral dimple, Short stature, Dental crowding, Kyphoscoliosis, Cleft so... |
OMIM:616331 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... |
OMIM:602535 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Atrial septal defect, Short neck, Short tibia, Coronal cleft vertebrae, Decreased cal... |
OMIM:620076 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Abnorma... |
ORPHA:2075 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Upslanted palpebral f... |
OMIM:619179 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut... |
ORPHA:290 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Atrial septal defect, Decreased skull ossi... |
ORPHA:1662 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Hyperactivity, Tented upper lip vermilion, Ventricular septal defect, Epicanthus, S... |
OMIM:615673 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short stature, Short neck, Patent ductus arte... |
OMIM:300472 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Long palpebral... |
ORPHA:163649 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Impulsivity, Short neck, Micrognathia, High, narrow palate, Synophrys, Hip dislocat... |
ORPHA:96092 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Mesomelic/rhizomelic limb shortening, Cleft palate, Hypoplastic vertebral bodies, Cor... |
ORPHA:2347 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:615476 |
Birk-Barel Syndrome |
|
Microretrognathia, Sacral dimple, Tented upper lip vermilion, Highly arched eyebrow, High palate,... |
OMIM:612292 |
Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Pseudobulbar paralysis, Perimembranous ventri... |
OMIM:618651 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:607598 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Unilateral ptosis, Coronary-pulmonary artery fistula, Micrognathia, High palate, Patent foramen o... |
OMIM:619699 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Narrow palpebral... |
OMIM:618571 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short palm, Severe short stature, Joint stiffne... |
ORPHA:2588 |
Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Limbal dermoid, Transverse facial cleft, ... |
OMIM:164210 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume... |
ORPHA:3474 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Sacral dimple, Short stature, Abnormality of the dentition, Patent ductus arteriosu... |
OMIM:300968 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Short neck, Micrognathia, Pyloric stenosis, M... |
OMIM:147791 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Epicanthus, Ventricular septal defect, Kyphoscoliosis, Protruding tongue, ... |
OMIM:301040 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Hyperplasia of the maxilla |
OMIM:620194 |
Zellweger Syndrome |
|
Death in infancy, Epicanthus, Ventricular septal defect, Short stature, Malabsorption, Micrognath... |
ORPHA:912 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
19Q13.11 Microdeletion Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Growth delay, Wide mouth, Sparse or absent... |
ORPHA:217346 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Cleft soft palate, Tarsal synostosis, Accessory oral frenulum, Short neck, Micrognat... |
ORPHA:2756 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Thin vermilion border, Long philtrum, Microphthalmia, Downslanted palpebra... |
ORPHA:1438 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip, Orofacial clef... |
ORPHA:1335 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Tarsal synostosis, Short stature, Aganglionic megacolon, Patent ductus... |
ORPHA:2473 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Micromelia, Micrognathia, Short tibia, Humeroradial synostosis, Abs... |
OMIM:251230 |
Oculodentodigital Dysplasia |
|
Epicanthus, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Enamel hypopla... |
OMIM:164200 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Neonatal death, Microphthalmia |
ORPHA:85284 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atria... |
OMIM:613610 |
Achondrogenesis, Type Ii |
|
Edema, Abnormally large globe, Polyhydramnios, Hydrops fetalis, Cleft palate, Stillbirth, Long ph... |
OMIM:200610 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal ossification, Enlargement of t... |
OMIM:241530 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect |
OMIM:616816 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Low serum calcitriol, Enlargement of the ankles, Wide cranial sutures,... |
ORPHA:289157 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, High ... |
ORPHA:2962 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:616730 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Dental crowding, Sparse eyelashes, Hypoplasia... |
OMIM:257850 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Short neck, Aggressive behavior, Sparse eyebrow, Delaye... |
OMIM:616202 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Bilateral microphth... |
ORPHA:2399 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Edema, Cleft palate, Long philtrum, Microphthalmia |
ORPHA:2505 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Short palm, Short stature, Micrognathia, Patellar apl... |
ORPHA:85201 |
Tarp Syndrome |
|
Thick eyebrow, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Abno... |
ORPHA:2886 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Supernume... |
OMIM:271520 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Decreased circulating calcifediol concentration, Recurrent fractures, ... |
OMIM:600081 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er... |
ORPHA:79239 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, ... |
ORPHA:452 |
Doors Syndrome |
|
Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal... |
ORPHA:79500 |
Distal Deletion 3P |
|
Sacral dimple, Epicanthus, Short stature, Telecanthus, Short neck, Micrognathia, Cleft palate, Do... |
ORPHA:1620 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, H... |
ORPHA:284160 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, Anal stenosis, Ventricular septal defect, Short stature, Craniosynostosis, Sagittal... |
OMIM:617063 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... |
ORPHA:50 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum,... |
ORPHA:280 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Growth delay, Short stature |
ORPHA:1667 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Synophrys, Widely spaced ... |
OMIM:612474 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, S-shaped palpebr... |
OMIM:229400 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Short stature, Micrognathia, Kyphosis, Cleft palate,... |
ORPHA:1393 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios, Duodenal stenosis |
ORPHA:2547 |
Toriello-Carey Syndrome |
|
Telecanthus, Short stature, Aganglionic megacolon, Short neck, Postnatal growth retardation, Micr... |
ORPHA:3338 |
Joubert Syndrome 14 |
|
Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft p... |
OMIM:614424 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Short thumb, Patent ductus arteriosus, ... |
ORPHA:1708 |
Cardiofaciocutaneous Syndrome |
|
Ptosis, Epicanthus, Abnormal heart valve morphology, Short stature, Short neck, Abnormal eyelash ... |
ORPHA:1340 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia |
OMIM:619318 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Marden-Walker Syndrome |
|
Ptosis, Epicanthus, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Narrow mout... |
OMIM:248700 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Short stature, Aganglionic megacolon, Cleft palate, Sh... |
OMIM:614207 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Delayed erupt... |
OMIM:265800 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, High, narrow palate, Synophrys, Downturned corners of mouth... |
OMIM:122470 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial septal defect, ... |
ORPHA:466791 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Hyperactivity, Epicanthus, Ventricular septal defect, Short stature,... |
OMIM:607721 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Hypoplasia of the maxilla, Micrognathia, Cicatricial lagophthalmos, Flexion contractu... |
OMIM:263650 |
Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Short neck, Synophrys, Flexion contracture, Patent ductus arteriosus, Ma... |
OMIM:617303 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Short stature, Short neck, Postnatal growth retardation, Micrognathia, Cleft palate, ... |
OMIM:257300 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Joubert Syndrome 3 |
|
Epicanthus, Highly arched eyebrow, Atrial septal defect, Open mouth, Ptosis |
OMIM:608629 |
Eiken Syndrome |
|
Short stature, Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip ver... |
OMIM:600002 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Delayed skeletal maturation, Cranial hyperostos... |
ORPHA:330015 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Knee ... |
OMIM:210710 |
Obesity Due To Sim1 Deficiency |
|
Low levels of vitamin B1, Short stature, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Abnormality of the anus, Deat... |
ORPHA:2308 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Synophrys, High palate, Atrial septal defect, Patent fora... |
ORPHA:280633 |
Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Ventricular septal defect, Abnormal dental en... |
ORPHA:1071 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Short stature, Ventricular septal defect, Craniosynostosis, Micrognathia, Spars... |
OMIM:250410 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Aganglionic megacolon, Carious teeth, Dacryocystitis, Patent ductus arterio... |
ORPHA:1051 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Short stature, Patent ductus arteriosus after prematur... |
OMIM:618460 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, High palate, Atrial septal defect, Abnormal dental pulp morphology, Pate... |
ORPHA:363700 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Short stature, Highly arched eye... |
OMIM:618454 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Short stature, Dental crowding,... |
OMIM:300990 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Short stature, Impulsivity, Almond-shaped palpebral fissure... |
ORPHA:398069 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo... |
OMIM:248450 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Micrognathia... |
ORPHA:96191 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Ham... |
OMIM:269860 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Shor... |
OMIM:614230 |
Developmental And Epileptic Encephalopathy 90 |
|
Ankle clonus, Atrial septal defect |
OMIM:301058 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... |
OMIM:617478 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, High palate, Blepharophimosis, Microphthalmia, Epicanthus inv... |
OMIM:110100 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hemive... |
ORPHA:77298 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ... |
ORPHA:79408 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Ventricular septal defect, Proportionate short stature, Micr... |
OMIM:613457 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Short stature, Flexion contracture, Submucous cleft hard palate, Ankle clonus, Aortic root aneury... |
OMIM:618891 |
Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Hypoplasia of teeth, Long philtrum, Microphthalmia, Downs... |
OMIM:218340 |
3Q29 Microduplication Syndrome |
|
Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M... |
ORPHA:251038 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate, Oligohydramnios |
OMIM:619053 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Short metacarpal, Lumba... |
OMIM:608328 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Atrial septal defect, A... |
OMIM:147920 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Long eyelashes |
ORPHA:48431 |
Smith-Lemli-Opitz Syndrome |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Advanced eruption of teeth, Atri... |
ORPHA:818 |
Distal Deletion 19P |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short... |
ORPHA:96129 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bone pain, Rickets, Growth delay, Low levels of vitamin D, Tooth abscess |
ORPHA:89937 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Postnatal growth retardation, Dilated cardiomyopathy, Atrial septal... |
OMIM:610198 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t... |
OMIM:618371 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Smooth philtrum, Thin upper lip vermilion, Rhizomel... |
ORPHA:263508 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Patent ductus ar... |
OMIM:602782 |
Acrofrontofacionasal Dysostosis 1 |
|
Long eyebrows, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Long eyelashes, S-shaped p... |
OMIM:201180 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Foot jo... |
ORPHA:444072 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Epicanthus, Patent ductus arter... |
OMIM:607143 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Intrauterine growth retar... |
OMIM:620327 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Ventricular septal... |
ORPHA:2438 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial sept... |
OMIM:300855 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ... |
ORPHA:1860 |
Teebi-Shaltout Syndrome |
|
Ptosis, Telecanthus, Ventricular septal defect, Short stature, Highly arched eyebrow, High, narro... |
OMIM:272950 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Moebius Syndrome |
|
Epicanthus, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, High palate... |
OMIM:157900 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Fanconi Anemia |
|
Micrognathia, Abnormal eyelid morphology, Reduced bone mineral density, High palate, Atrial septa... |
ORPHA:84 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Severe short stature, Cleft soft palate, Kyphoscoliosis, Micrognathia, D... |
ORPHA:93316 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Synophrys, Anter... |
OMIM:612289 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:611561 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Compulsive be... |
ORPHA:353281 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Micr... |
OMIM:601005 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Conical tooth, Sparse eyebrow, Upslanted palpebral fissure, Widely... |
OMIM:613451 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Cheilitis, Art... |
ORPHA:2331 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... |
ORPHA:369837 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Camptodactyly of toe, Long phil... |
ORPHA:261337 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Epicanthus, Lumbar hyperlordosis, Progressive flexion con... |
ORPHA:522077 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short neck, Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand m... |
OMIM:609945 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Short stature, Micrognathia, Pulmonary artery hypoplasia, Atrial septa... |
OMIM:616777 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Micrognathia, Severe postnatal growth reta... |
ORPHA:3078 |
Celiac Disease, Susceptibility To, 1 |
|
Vitamin B12 deficiency, Short stature, Postnatal growth retardation, Celiac disease, Low levels o... |
OMIM:212750 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Vitamin B12 deficiency, Intraventricular hemorrhage, Decreased adenosylcobalamin, Cleft palate, A... |
ORPHA:79284 |
Gracile Bone Dysplasia |
|
Death in infancy, Aniridia, Microphthalmia, Ascites, Ankyloglossia |
OMIM:602361 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, High, narrow palate,... |
OMIM:616920 |
Mosaic Trisomy 1 |
|
Microretrognathia, Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Thick ... |
ORPHA:1692 |
Trisomy 18 |
|
Microretrognathia, Epicanthus, Ventricular septal defect, Camptodactyly of finger, Short stature,... |
ORPHA:3380 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353277 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma... |
ORPHA:96334 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Obsessive-compulsive trait, Ventricular septal defect, Attention deficit hyperactiv... |
OMIM:619908 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De... |
ORPHA:99742 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum... |
OMIM:616268 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Elbow contracture, Rhizomelia, Patent ductus arteriosus, Knee flexi... |
OMIM:618162 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Short neck,... |
OMIM:609460 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal o... |
OMIM:300554 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Short stature, Dental crowding, Abnormality of ... |
ORPHA:769 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High... |
OMIM:617402 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Postnatal growth retardation, Hia... |
OMIM:304050 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cleft palate |
OMIM:611134 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Fat malabsorption, Abnormality of vitamin metabolism, Steatorrhea |
ORPHA:71 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Short stature, Micrognathia, Secundum atrial septal defect, Short toe, Synophr... |
OMIM:620072 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone... |
ORPHA:581 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Abnormal dental ename... |
ORPHA:2710 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Compulsive behaviors, Microdontia, Atrial septal defe... |
OMIM:135900 |
Native American Myopathy |
|
Joint laxity, Short stature, Micrognathia, Bilateral ptosis, Cleft palate, Abnormal curvature of ... |
ORPHA:168572 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad eyebrow, Epicanthus, Lumbar hyperlordosis, Short stature, Ventricular septal defect, Microg... |
OMIM:616975 |
Pernicious Anemia |
|
Malabsorption of Vitamin B12 |
OMIM:170900 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Ventricular septal defect, Protruding tongue, Micrognathia, High, narrow palate, Dela... |
OMIM:214100 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins... |
OMIM:126320 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Abnormal eyelid morphology, Abnormal aortic arch morphology, Short phil... |
ORPHA:567 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Growth delay, Wide mouth, Short foot, Median pseudocleft lip, Upsl... |
OMIM:619758 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Microretrognathia, Ventricular se... |
ORPHA:459070 |
Fanconi Anemia, Complementation Group N |
|
Epicanthus, Ventricular septal defect, Short neck, Postnatal growth retardation, Short thumb |
OMIM:610832 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Orofacial cleft, High palate, Atrial septal defect, Patent fora... |
OMIM:607872 |
Trisomy 1Q |
|
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, ... |
ORPHA:261344 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Low levels of vitamin K, Steatorrhea |
OMIM:607748 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Micrognathia, Upper eyelid col... |
OMIM:154500 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
High serum calcitriol, Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone ... |
OMIM:211900 |
Ohdo Syndrome, X-Linked |
|
Ptosis, Epicanthus, Hiatus hernia, Sparse eyebrow, Blepharophimosis, Thin vermilion border, High ... |
OMIM:300895 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Orofacial cleft, Genu valgum, Short ribs |
OMIM:615630 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Hyperactivity, Epicanthus, Transient ischemic attack, Short nec... |
OMIM:600268 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ventricular septal defe... |
OMIM:618504 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Microphthalmia, Epicanthus |
ORPHA:3191 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dilated cardiomyopathy, F... |
ORPHA:89842 |
Monosomy 13Q34 |
|
Epicanthus, Micrognathia, Growth delay, Horizontal eyebrow, Pulmonic stenosis, Common atrium, Ost... |
ORPHA:96168 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Death in childhood, S... |
OMIM:619127 |
Seckel Syndrome 2 |
|
Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Restlessness, Delayed skeletal maturation, Flexion contracture, Hyperextensibility at wrists, Hyp... |
ORPHA:544503 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C... |
ORPHA:534 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Ventricular septal defect, Sho... |
ORPHA:163979 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Short stature, Cardiomegaly, Micrognathia, Abnormal isoelectric focusi... |
OMIM:614921 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... |
OMIM:613795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia |
OMIM:613155 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Epicanthus, Short stature, Stomach cancer, Micrognathia, Osteolysis, Cleft ... |
ORPHA:1052 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia, Type I transferrin isoform profile |
OMIM:612379 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Ventricular septal defect, Hypoplasia of teeth, Growth delay, Kerat... |
OMIM:234050 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Ptosis, Microphthalmia, Narrow palpebral fissure, Long philtrum |
OMIM:615145 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Retrognathia, Narrow palat... |
OMIM:620107 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Thin upper lip vermilion, Telecanthus, Peripheral pulmonary artery stenosis, Bicusp... |
OMIM:300707 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased circulating vitamin E concentration, Elevated circulating alanine aminotransferase conc... |
OMIM:615558 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricula... |
ORPHA:79328 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Intrauterine growth retardation, Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... |
OMIM:619950 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Ventricular septal defect, Micromelia, Short neck, Swollen lip, Cleft upper lip, Micr... |
OMIM:256520 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Persistent open anterior fontanelle, Epicanthus, Ventricular septal defect, Pal... |
OMIM:614866 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Cleft max... |
ORPHA:508488 |
Cornelia De Lange Syndrome |
|
Micromelia, Short neck, Micrognathia, Synophrys, Downturned corners of mouth, Widely spaced teeth... |
ORPHA:199 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Joubert Syndrome 37 |
|
Microphthalmia, High palate, Ptosis |
OMIM:619185 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Absent pulmonary artery, Cl... |
OMIM:600460 |
Noonan Syndrome 1 |
|
Epicanthus, Ventricular septal defect, Short stature, Kyphoscoliosis, Short neck, Postnatal growt... |
OMIM:163950 |
Fryns Syndrome |
|
Tented upper lip vermilion, Short neck, Atrial septal defect, Microretrognathia, Cleft upper lip,... |
OMIM:229850 |
Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Micrognathia, Velopharyngeal insufficiency, Patent ductus arteriosus, Up... |
OMIM:617746 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Growth d... |
OMIM:617798 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Hip dislocation, Kne... |
ORPHA:70 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... |
ORPHA:2328 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Osteomalacia, High serum calcitriol, Bone pain, Reduced bone mineral density, Grow... |
ORPHA:157215 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Short neck, Micrognathia, Patent ductus arteriosus, Flexion co... |
OMIM:300868 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Telecanthus, Ventricular septal defect, Cleft upper lip, Rectourethral ... |
OMIM:300000 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Elevated circulating alanine aminotransferase concentration |
OMIM:618805 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Malar flatt... |
OMIM:218350 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Self-injurious behavior, Scoliosis, Atrial septal defect, Retrognathia, Ab... |
ORPHA:457351 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Bilateral microphthalmos, Thick lower lip vermilion, Denta... |
ORPHA:2563 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Bilateral ... |
OMIM:618874 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Narrow palpebral fissure, Oligohydramnios |
OMIM:614219 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Humeroradial synostosis, Flexion contracture, Lambdoidal craniosynostosis, Camptodactyly, Atrial ... |
OMIM:207410 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Thin upper lip vermilion, Aggressive behavior, Secundum atrial septal defect, Attention deficit h... |
OMIM:618665 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Micrognathia, Synophrys, Short phi... |
OMIM:619841 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Epicanthus, Cleft upper lip, Postnatal growth reta... |
OMIM:242840 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognat... |
ORPHA:904 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Short ribs, Atrial septal defect |
ORPHA:2519 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, 11 pairs of ribs, Prominent metopic ridge, Tented upper lip vermilion, Ven... |
ORPHA:488632 |
Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Short neck, Micrognathia, Downturned corners of mouth, Inappr... |
ORPHA:3310 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ilea... |
OMIM:243150 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum, Ectr... |
OMIM:616395 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Peripheral pulmonary artery stenosis, Micrognathia, P... |
OMIM:613177 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... |
ORPHA:268249 |
Walker-Warburg Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Abnormal lactate dehydrogenase level, Cleft palate, Mi... |
ORPHA:899 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Short stature, Cleft upper lip, Radial head subluxation, ... |
OMIM:146510 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio... |
OMIM:600001 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Epicanthus, Short stature, Growth delay, Macroglossia, Upslanted palpebral fissure, Atrial septal... |
ORPHA:93947 |
Pseudoaminopterin Syndrome |
|
Epicanthus, Short stature, Sagittal craniosynostosis, Limited elbow movement, Micrognathia, Short... |
ORPHA:221120 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Epicanthus, Ventricular septal defect, Short stature, Dysphagia |
OMIM:618325 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterine growth r... |
ORPHA:60041 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Shallow orbits, Patent foramen ovale, Prominent metopic ridge, Short st... |
ORPHA:576 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... |
ORPHA:2751 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short neck, Postnatal growth retardation, Mi... |
ORPHA:1655 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Lumbar hyperlordosis, Telecanthus, Short neck, Joint stiffness, Patent ductus arterio... |
ORPHA:505248 |
Deafness-Hypogonadism Syndrome |
|
Epicanthus, Delayed skeletal maturation, Low levels of vitamin B1, Delayed puberty |
ORPHA:90646 |
Gabriele-De Vries Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, High palate, Finger joint hypermobility, Patent foramen ... |
ORPHA:506358 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Short stature, Coronary sinus enlargement, Micrognathia, Pulmonary art... |
OMIM:619268 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Short stature, Small hand, Abnormal protein O-linked glycosylation, S... |
OMIM:618885 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Short stature, Almond... |
ORPHA:438213 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Epicanthus, Tented upper lip vermilion, Cleft lip... |
OMIM:619148 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, High palate, Reduced blood folate... |
OMIM:619488 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... |
ORPHA:1942 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, O... |
ORPHA:141099 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Epicanthus, Ventricular septal defect, Short stature, Cleft soft palate, S... |
ORPHA:124 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Poly... |
ORPHA:2059 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Reduced bone mi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Reduced bone mi... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Reduced bone mi... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Reduced bone mi... |
ORPHA:881 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Downturned corners of mouth, High palate, Widely spaced teeth, Microd... |
OMIM:618268 |
Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Growth delay, Pulmonic st... |
ORPHA:139466 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect, Micrognathia |
OMIM:243440 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Neurocardiofaciodigital Syndrome |
|
Short stature, Sparse eyebrow, Patent ductus arteriosus, Retrognathia, Narrow palpebral fissure, ... |
OMIM:619869 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Protruding tongue, Synophrys, Conotruncal defect, Coarctation of aorta, Gr... |
ORPHA:96147 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, High serum calcitriol, Bone pain, R... |
OMIM:613388 |
Feingold Syndrome 1 |
|
Micrognathia, High palate, Esophageal atresia, Short toe, Short thumb, Patent ductus arteriosus, ... |
OMIM:164280 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Epicanthus, Short stature, Micrognathia, Patent ductus arteriosus, Abnorma... |
ORPHA:85276 |
Riboflavin Deficiency |
|
Low levels of vitamin B2 |
OMIM:615026 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Microphthalmia, Short philtrum, Death in infancy |
ORPHA:163966 |
Distal Deletion 12Q |
|
Short neck, Micrognathia, High, narrow palate, Patent foramen ovale, Self-mutilation, Hyperactivi... |
ORPHA:96149 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Esophageal varix, Ventricular septal defect, Foot oligodactyly |
OMIM:616589 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Micrognathia, Atrial septal defect, Bifid uvula, Self-mutilation, Mi... |
OMIM:270400 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Atrial septal defect,... |
ORPHA:363611 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Abnormality of vitamin D metabolism, Esophagitis, Hepatic failure,... |
ORPHA:541423 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... |
OMIM:136140 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Compulsive b... |
ORPHA:2044 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neon... |
OMIM:620024 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Epicanthus, Tented upper lip vermilion, Short stature, High, narrow palate, Achilles tendon contr... |
OMIM:618076 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Ventr... |
ORPHA:33364 |
Nance-Horan Syndrome |
|
Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Dietary Iron Overload Disease |
|
Esophageal carcinoma, Osteoporosis, Low levels of vitamin C, Abnormal heart morphology |
ORPHA:139507 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Short toe, Patent ductus arteriosus, Orofacial ... |
ORPHA:1519 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil... |
OMIM:261540 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever... |
ORPHA:65286 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Bicuspid aortic valve, Atrial septal defect, Joint laxity, Abnormal dental mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Bicuspid aortic valve, Atrial septal defect, Joint laxity, Abnormal dental mor... |
ORPHA:363958 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Death in infancy, Right ventricula... |
OMIM:613404 |
Mgat2-Cdg |
|
Osteopenia, Ventricular septal defect, Dental crowding, Kyphosis, Patent ductus arteriosus, Abnor... |
ORPHA:79329 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Epicanthus, Micrognathia, Patent ductus arteriosus, Cleft palate, Thin vermilion b... |
OMIM:614080 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Edema, Hiatus hernia, High palate, Narrow mouth, Microphthalmia, Downslanted palpebra... |
OMIM:617729 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Atrial... |
OMIM:304120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Death in childhood |
OMIM:613153 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Unilateral narrow palpebral fis... |
OMIM:618727 |
Mogs-Cdg |
|
Thoracic scoliosis, Cardiomegaly, Retrognathia, High palate, Long eyelashes, Atrial septal defect... |
ORPHA:79330 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Holoprosencephaly |
|
Short neck, Deep philtrum, Synophrys, Abnormal form of the vertebral bodies, Bilateral cleft lip,... |
ORPHA:2162 |
Dent Disease 1 |
|
Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal o... |
OMIM:300009 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Smooth philtrum, 11 pairs of ribs, Craniosynostosis, Microdontia, Micrognathia, Blepharophimosis,... |
OMIM:620005 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ventricular septal defect, Short stature, Abnormal eating behavior, Abnormal drink... |
ORPHA:209905 |
Keutel Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Recurrent sinusitis, Short d... |
ORPHA:85202 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Low levels of vitamin K, Abnormal circulatin... |
ORPHA:79095 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Fused teeth, High pala... |
OMIM:300896 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
Donnai-Barrow Syndrome |
|
Downslanted palpebral fissures, Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Bdv Syndrome |
|
Atrial septal defect, Micrognathia, Delayed puberty |
OMIM:619326 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cleft palate, Incomplete cleft of th... |
OMIM:616300 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Atrial sep... |
ORPHA:500150 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate... |
OMIM:268300 |
Lymphatic Malformation 6 |
|
Epicanthus, Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydram... |
OMIM:616843 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Downturned corners of mouth, High palate, Atrial septal defect, Abnormal repetitive mannerisms, S... |
OMIM:619522 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Hypoplastic right heart, Kyphoscoliosis, Blepharophimosis, Hip dislocation, Hypertroph... |
OMIM:617403 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Carious teeth, Velopharyngeal insufficiency, ... |
OMIM:223370 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Perimembranous ventricular s... |
ORPHA:99095 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Jaundice, Abnormal blood folate concen... |
OMIM:613839 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Short neck, Esophageal diverticulum, Complete atrioventricular ... |
OMIM:617925 |
Frontorhiny |
|
Epicanthus, Cleft palate, Microphthalmia, Bifid tongue, Ptosis |
ORPHA:391474 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, High palate, Abnormal repetitive mannerisms, Patent foramen ovale, Joint... |
OMIM:619325 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:612527 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Downturned corners of mouth,... |
OMIM:619539 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Ventricular septal defect, Hamartoma of tongue, Micr... |
OMIM:615948 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial sep... |
ORPHA:480880 |
Alagille Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Miscarriage, Short hallux, Premature fusion of phalangeal e... |
OMIM:245150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition ... |
OMIM:253800 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Peripheral pulmonary artery stenosis, Genu recurvatum, Postnatal growth... |
ORPHA:90348 |
Spondyloocular Syndrome |
|
Osteopenia, Short stature, Duodenal ulcer, Abnormality of the dentition, Mitral valve prolapse, P... |
OMIM:605822 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph... |
ORPHA:99772 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Edema, Abnormal eyelid morphol... |
ORPHA:2526 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cleft lip, Patent ductus arteriosus, High palate, Long philtrum, Patent forame... |
OMIM:251290 |
Warburg Micro Syndrome 4 |
|
Ptosis, Microphthalmia, Long philtrum, Narrow mouth |
OMIM:615663 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Synophrys, Bilateral microphthalmo... |
OMIM:610828 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Short neck, High palate, Abnormal repetitive mannerisms, Bifid uvula, Join... |
OMIM:620330 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, High palate, Atrial septal defect, Long philtrum, Jo... |
OMIM:601776 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Long eyelashes, Long philtrum, Microphthalmia, Cryptophthalmos |
OMIM:615877 |
Alg12-Cdg |
|
Thin upper lip vermilion, Epicanthus, Ulnar deviation of the wrist, Intestinal malrotation, Micro... |
ORPHA:79324 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Thoracic scoliosis, Natal tooth, Short stature, Epicant... |
OMIM:620186 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Atrial septal defect, Epicanthus, Ventricular septal def... |
OMIM:218040 |
Carpenter Syndrome 2 |
|
Short neck, High, narrow palate, Ectropion of lower eyelids, Knee flexion contracture, High palat... |
OMIM:614976 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Short stature, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of ... |
OMIM:603467 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphos... |
OMIM:259770 |
Congenital Tracheomalacia |
|
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus ... |
ORPHA:95430 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Limbal dermoid, Eyelid coloboma, Subvalvular aortic stenosis, Atrial s... |
OMIM:613001 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Neurofibromatosis-Noonan Syndrome |
|
Epicanthus, Short stature, Short neck, Secundum atrial septal defect, Lisch nodules, Thick vermil... |
OMIM:601321 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Cleft lip, Pyloric stenosis... |
ORPHA:1199 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Low serum calcitriol, Villous atrophy, Elevated alkaline phosphata... |
ORPHA:398063 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Short stature, Micrognathia, Patent ductus arteriosus, Cleft palate, G... |
OMIM:613309 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of... |
OMIM:618779 |
Hardikar Syndrome |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short stature, Cleft soft palate, Celiac dise... |
OMIM:301068 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Dextrocardia, Aplasia/Hypoplasia of the sternum, Short neck, Mis... |
ORPHA:2911 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia |
ORPHA:3301 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Death in childhood |
OMIM:610756 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis |
OMIM:276822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Anal atresia |
ORPHA:1352 |
Juvenile Polyposis Of Infancy |
|
Short stature, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Patent ductus... |
ORPHA:79076 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Peripheral pulmonary artery stenosis, Short stature, Ventricular septal defect, High, narrow pala... |
OMIM:619575 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short stature, Cleft soft palate, Highly arched eyebrow, Short neck, Micrognathia, Patent ductus ... |
ORPHA:2282 |
Warburg Micro Syndrome 3 |
|
Downturned corners of mouth, Microphthalmia, Narrow palate, Blepharophimosis |
OMIM:614222 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Aggressive behavior, Patent ductus arteriosus... |
ORPHA:17 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Epicanthus, Blepharophimosis, Carious teeth, Synophrys, Cleft palate, U... |
OMIM:616734 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Patent ductus arteriosus, Overriding aorta, Ventricular septal d... |
OMIM:617021 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Abnormality of the dentition, Synophrys, Cleft palate, Upslant... |
ORPHA:261112 |
Charge Syndrome |
|
Hemivertebrae, Eyelid coloboma, Abnormality of bone mineral density, Compulsive behaviors, Short ... |
ORPHA:138 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p... |
OMIM:263520 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Flexion contracture... |
OMIM:619306 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Wide mouth, Stillb... |
OMIM:243605 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Thin upper lip vermilion, Prominent metopic ridge, Wide mouth |
OMIM:608688 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Synophrys, Abnormal curvature of the verte... |
OMIM:619475 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Micrognathia, Deep philtrum, Hip... |
OMIM:613884 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Absent eyebrow, Epicanthus, Sparse eyelashes, Absent eyelashes, Sparse... |
OMIM:268400 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Sparse eyebrow, High palate, Microphthalmia, Downslanted palpebral fissures |
ORPHA:35173 |
Atelis Syndrome 2 |
|
Epicanthus, Diastema, Thick lower lip vermilion, Downturned corners of mouth, High palate, Microp... |
OMIM:620185 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Repetitive compulsive behav... |
ORPHA:513456 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Epicanthus, Ventricular septal defect, Short stature, Increased intervertebral space,... |
OMIM:619727 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs, Long philtrum |
OMIM:617895 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Hypodontia, Atrial septal defect, Microdontia, Malar flattening |
OMIM:602482 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse eyebrow,... |
ORPHA:306542 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of middle ear ossicl... |
OMIM:613717 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... |
OMIM:604757 |
Fanconi Anemia, Complementation Group C |
|
Epicanthus, Ventricular septal defect, Short stature, Absent thumb, Absent radius, Short thumb, F... |
OMIM:227645 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Microphthalmia, Downslanted palpebral fi... |
OMIM:302960 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Accelerated skeletal maturation, Vertebral segmentation defect, Short palm... |
OMIM:312870 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Microdontia, Atrial sept... |
OMIM:194050 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Epicanthus, Highly arched eyebrow, Accelerated skeletal maturation, Abnormal rep... |
OMIM:618653 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Sparse eyelashes, Selective tooth agenesis, Sparse eyebrow, High, narrow palate, Sup... |
OMIM:234100 |
Martsolf Syndrome 1 |
|
Epicanthus, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition, Downsl... |
OMIM:212720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale, Recurrent aphthous stomatitis, Recurrent sin... |
OMIM:614868 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Atrial septal defect, Increased density of long bones, Short neck, Postn... |
OMIM:269150 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl... |
ORPHA:568 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Secundum atrial septal defect, High, narrow palate, Growth delay, Symphalan... |
ORPHA:1439 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Micrognathia, Flexion contracture, Downturned corners ... |
OMIM:264090 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Pyloric stenosis, Absent hand,... |
ORPHA:3138 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Limited hip extension, Flexion contracture, Growth delay, High palate,... |
OMIM:614653 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion |
OMIM:278730 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stature, Cle... |
ORPHA:268261 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Neonatal death, Long philtrum, Atrial septal defect, Patent foramen ova... |
OMIM:620244 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Aplastic clavicle, Hiatus hernia, Elbow dislocation, Esophageal atresia, ... |
ORPHA:2538 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Ventricula... |
ORPHA:2729 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Low levels of vitamin K |
ORPHA:565899 |
Marchiafava-Bignami Disease |
|
Low levels of vitamin B1, Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Bifid uvula |
OMIM:241410 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Ankle flexion contracture, Kyphosis, Short toe, Abnormal repetitive ma... |
ORPHA:464311 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Intrauterine growt... |
OMIM:611812 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Short stature, Ventricular septal defect, Aggressive behavior, Wide mou... |
OMIM:618846 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cleft lip, Synophrys, Dental malocclusion, Lacrimal duct atresia, Cleft palate, Hypoplasia of tee... |
OMIM:603457 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Epidermal Nevus Syndrome |
|
Osteopenia, Thoracolumbar scoliosis, Spinal canal stenosis, Low levels of vitamin D, Aortic aneurysm |
ORPHA:35125 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:618775 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Hiatus hernia, Oligohydramnios, Hypoplasia of the iris, Wide mouth, High palate, Micr... |
OMIM:251300 |
Hyperprolinemia Type 2 |
|
Abnormal circulating enzyme concentration or activity, Reduced circulating vitamin B6 level |
ORPHA:79101 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Short stature, Ventricular septal defect, Avascular necrosis of the capital femo... |
OMIM:222470 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... |
OMIM:606170 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Subarterial ventricular s... |
ORPHA:99646 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Joint stiffness, Secundum atrial septal defect, Flexion contracture, Severe int... |
OMIM:609069 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Micrognathia, Ao... |
OMIM:620025 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Syndromic Diarrhea |
|
Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Short stature, Gastritis, Pate... |
ORPHA:84064 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Keratoconjunctivitis sicca, Abnormality of the dentition |
ORPHA:1806 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Cleft soft palate, Micrognathia, Downslanted palpebral fissures, ... |
OMIM:606851 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Death in infancy, Macrodontia, Cleft upper lip, Cleft palate, Thin v... |
ORPHA:1106 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, n... |
ORPHA:2108 |
Cousin Syndrome |
|
Alveolar ridge overgrowth, Cleft palate, Narrow palpebral fissure, Blepharophimosis, Microphthalm... |
OMIM:260660 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, High serum calcitriol, Calvarial osteosclerosis, Metacarpal periosteal thickening |
OMIM:617994 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Accessory oral frenulum, Short neck, Micromelia, Aplastic clavicle, Cleft pa... |
OMIM:616546 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Myocarditis, Delayed epiphyseal ossif... |
OMIM:250220 |
Limb Body Wall Complex |
|
Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, Cleft lip, Apla... |
ORPHA:2369 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Cryptophthalmos, Anal atres... |
OMIM:617666 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Orofacial cleft, Narro... |
ORPHA:77301 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Telecanthus, Ventricular septal defect, Accessory oral frenulum, Short neck, H... |
ORPHA:434179 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Lip pit, Hypodontia, Microphthalmia, Abnormal palate morphology |
ORPHA:1236 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th finger, Short 4t... |
OMIM:181450 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, High palate, Short philtrum, Bifid uvula, Short stature, Paten... |
OMIM:188400 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Keratoconjunctivitis sicca, Microphthalm... |
OMIM:601675 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Cleft palate, Anteriorly placed anus,... |
OMIM:309801 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Short stature, Carious teeth, Osteoporosis, Oral ulcer, Gout, Increased susceptibilit... |
ORPHA:79259 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hemivert... |
OMIM:118450 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Volvulus, Gingival bleeding |
ORPHA:335 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Dehydration, Decreased methylmalonyl-CoA mut... |
OMIM:251100 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Short stature, Intestinal malrotation, Delayed skeletal maturation, Ric... |
OMIM:613658 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Multiple joint contractures, Ventricular septal defect, Short stature, Kyphosis, P... |
ORPHA:464306 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Atrial septal defect, Atrioventricular canal defect, Paroxysmal bursts of laughter... |
ORPHA:672 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Short neck, Micrognathia, Flexion contrac... |
OMIM:601803 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Vater/Vacterl Association |
|
Ventricular septal defect, Postnatal growth retardation, Esophageal atresia, Short thumb, Absent ... |
OMIM:192350 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental malocclusion, ... |
OMIM:610829 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary artery stenosis, Cle... |
OMIM:100300 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short sternum, Malar flattening, Downslanted p... |
OMIM:222448 |
Refsum Disease |
|
Microphthalmia, Ptosis |
ORPHA:773 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Short stature |
OMIM:612528 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Polydipsia, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Shallow orbits |
OMIM:617306 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Abnormal circulating enzyme concentration or activity, Low levels of vitamin B1 |
ORPHA:79244 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Microglossia, Cleft palate, Thick anterior alveolar ridges, Short palpe... |
ORPHA:2839 |
Adams-Oliver Syndrome |
|
Microphthalmia, Ascites, Esophageal varix, Portal hypertension |
ORPHA:974 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Short stature, Ventricular septal defect, Aganglionic megacolon, Pulmo... |
OMIM:235730 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate, Short hallux |
OMIM:216300 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Epicanthus, Ventricular septal defect, Growth delay, High palate, Joint hyperm... |
OMIM:619418 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... |
OMIM:243800 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Micrognathia, Postnatal growth retardation, Short hallux, S... |
OMIM:620305 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short ribs, Ventricular septal defect, Acetabular spurs, Short stature |
OMIM:615503 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Polyhydramnios, Cleft palate, Orofacial cleft, Narrow mouth, Microphthalm... |
ORPHA:2166 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Micrognathia, Secundum atrial septal defect, Polydipsia |
ORPHA:2260 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, Medial calcification of large arteries, Short stature, Delayed skele... |
ORPHA:391487 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, High palate, Long philtrum, Microphthalmia, Ankyloglossia |
ORPHA:250989 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Downslanted palpebral fissures, Right atrial enlargement |
OMIM:615219 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
Imerslund-Gräsbeck Syndrome |
|
Vitamin B12 deficiency, Angular cheilitis, Abnormal blood 5-methyltetrahydrofolate level, Malabso... |
ORPHA:35858 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Epicanthus, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse... |
ORPHA:500095 |
Liver Disease, Severe Congenital |
|
Joint laxity, Chronic gastritis, Epicanthus, Ventricular septal defect, Left atrial enlargement, ... |
OMIM:619991 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi... |
OMIM:610505 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Epicanthus, Short stature, Bicuspid aortic valve, Aggressive behavior, Secundum atrial septal def... |
OMIM:613355 |
Dent Disease |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
ORPHA:1652 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Blepharophimosis, ... |
OMIM:601707 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Patent foramen ovale, Right ventri... |
OMIM:616028 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplasti... |
OMIM:616682 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Ventricular septal defect, Micrognathia, Supernumerary tooth, Osteoporosis, Abnormal protein O-li... |
OMIM:619525 |
Leigh Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Growth delay, Dysphagia, Intrauterine gro... |
ORPHA:506 |
Micro Syndrome |
|
Microphthalmia, High palate, Short philtrum |
ORPHA:2510 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Intestinal malrotation, Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial ... |
OMIM:208540 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Miss... |
ORPHA:3186 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Narrow philtrum, Corneal stromal edema, Thin vermilion border, Shallow... |
OMIM:601812 |
Curry-Jones Syndrome |
|
Microphthalmia, Intestinal malrotation |
ORPHA:1553 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... |
OMIM:267010 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Microphthalmia, Spontaneous conjunctival filtering bleb, Downsl... |
OMIM:601552 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Abnormality of canine, Sparse eyebrow, Short thumb, Synophrys, Bilatera... |
ORPHA:477993 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Mend Syndrome |
|
Telecanthus, Asymmetry of the mouth, Cleft palate, Upslanted palpebral fissure, High palate, Micr... |
ORPHA:401973 |
Infantile Nephropathic Cystinosis |
|
Growth delay, Polydipsia, Rickets, Abnormality of vitamin D metabolism |
ORPHA:411629 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth |
OMIM:300952 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:617397 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Papillorenal Syndrome |
|
Microphthalmia, Orbital cyst, Edema |
OMIM:120330 |
Fraser Syndrome |
|
Death in infancy, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Dental malocclus... |
ORPHA:2052 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Absent eyebrow, Short stature, Aganglionic megacolon, Absent eyelashes, Hip dis... |
OMIM:308205 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Upslanted palpebral fissure, Microph... |
OMIM:614083 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Perianal abscess, Pa... |
OMIM:612541 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Congenital malformation of the left heart, Synophrys, Hypoplastic vertebral bodies, D... |
ORPHA:3455 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, Cleft palate, High, narrow palate |
ORPHA:2714 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect... |
OMIM:236680 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal... |
ORPHA:3412 |
Diphallia |
|
Duplicated colon, Rectoperineal fistula, Absent thumb, Hemivertebrae, Abnormal heart morphology, ... |
ORPHA:227 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Meckel Syndrome, Type 1 |
|
Anal atresia, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Oli... |
OMIM:249000 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transposition of the great arteries, Ect... |
OMIM:313850 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Jaundice, Decreased circulating vitamin E con... |
ORPHA:309854 |
Sotos Syndrome |
|
Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Atrial septal defec... |
ORPHA:821 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Short stature, Abnormal pulmonary valve morphology, Blepharophimosis, Limb... |
ORPHA:857 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose veins, Thick... |
OMIM:617107 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Dilated cardiomyopathy, Cleft pal... |
OMIM:619573 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Epicanthus, Cleft soft palate, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial... |
OMIM:614557 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Chronic irritative conjunctivitis, Cleft hard palate, Cleft lip, Sparse ... |
ORPHA:69085 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contrac... |
ORPHA:261552 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contrac... |
ORPHA:2152 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Decreased circulating vitamin E concentration |
OMIM:277460 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Cleft upper lip, Cleft palate, Buphthalmos, Microphthalmia, Anal atresia |
OMIM:236670 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Short philtrum, Blepharophimosis, Retrognathia, Smooth philtrum |
ORPHA:293725 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contrac... |
ORPHA:261537 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Knee dislocation, Inlet v... |
OMIM:619534 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Microph... |
OMIM:612109 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Erythrodontia, Loss of eyelashes, Osteoporosis, Osteolysis, Keratoconjunctivitis, Seb... |
ORPHA:79277 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Death in infancy, Optic nerve hypoplasia, Death in childhood |
OMIM:614643 |
Meckel Syndrome |
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Anophthalmia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue, Aplasia/Hypoplasia... |
ORPHA:564 |
Meckel Syndrome 14 |
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Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:619879 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Absent eyebrow, Anophthalmia, Dental crowding, Cleft upper l... |
OMIM:219000 |
Ventriculomegaly With Cystic Kidney Disease |
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Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Short stature, Ventricular septal defect, Ventricular septal hypertrophy, Small hand |
OMIM:614947 |
Steinfeld Syndrome |
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Microphthalmia, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Cleft soft palate, Intestinal malrotation, Hypoplasia of eyelid, Flexion contractu... |
OMIM:619321 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Patent foramen ovale |
ORPHA:542306 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Absent eyebrow, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal... |
ORPHA:436252 |
Multiple Myeloma |
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Osteopenia, Bone pain, Pathologic fracture, Vertebral compression fracture, Abnormality of vitami... |
ORPHA:29073 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Buphthalmos, Microphthalmia |
OMIM:616538 |
Joubert Syndrome 2 |
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Microphthalmia, High palate |
OMIM:608091 |
Histiocytoid Cardiomyopathy |
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Microphthalmia, Cleft palate, Congenital aphakia, Pulmonary edema |
ORPHA:137675 |
Congenital Tracheal Stenosis |
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Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... |
ORPHA:141127 |
Coloboma, Ocular, Autosomal Dominant |
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Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
Roberts Syndrome |
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Polyhydramnios, Cleft upper lip, Cleft palate, High palate, Microphthalmia |
ORPHA:3103 |
Pearson Syndrome |
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Ptosis, Postnatal growth retardation, Dysphagia, Abnormal heart morphology, Growth delay, Cardiom... |
ORPHA:699 |
Isolated Arrhinia |
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Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Thin upper lip vermilion, Epicanthus, Polyhydramnios, High, narrow... |
OMIM:613406 |
Warburg Micro Syndrome 2 |
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Microphthalmia |
OMIM:614225 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia, Telecanthus |
ORPHA:2612 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Fanconi Anemia, Complementation Group D2 |
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Blepharophimosis, Microphthalmia, Esophageal atresia, Tracheoesophageal fistula |
OMIM:227646 |
Early Infantile Epileptic Encephalopathy |
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Hyperactivity, Ventricular septal defect, Cleft palate, Self-injurious behavior, Short finger |
ORPHA:1934 |
Cockayne Syndrome Type 3 |
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Elevated hepatic transaminase, Carious teeth, Keratoconjunctivitis sicca, Microphthalmia, Enamel ... |
ORPHA:90324 |
Cleft Soft Palate |
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Cleft soft palate |
OMIM:119570 |
Townes-Brocks Syndrome 1 |
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Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Short metatarsal, Tracheoesophag... |
OMIM:107480 |
Phace Syndrome |
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Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Ptosis |
ORPHA:42775 |
Cockayne Syndrome |
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Elevated hepatic transaminase, Abnormal dental morphology, Delayed eruption of primary teeth, Car... |
ORPHA:191 |
Cockayne Syndrome B |
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Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hypop... |
OMIM:133540 |
Juvenile Nephropathic Cystinosis |
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Low levels of vitamin D, Elevated alkaline phosphatase of bone origin, Dehydration |
ORPHA:411634 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, Abnorma... |
ORPHA:2556 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Optic nerve hypoplasia, Bilateral microphthalmos, Abnormality of the orbital region, Upslanted pa... |
ORPHA:468631 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Tetraamelia Syndrome 1 |
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Microphthalmia, Anal atresia, Cleft palate, Cleft upper lip |
OMIM:273395 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Growth delay, Patent foramen ovale |
OMIM:225250 |
Monosomy 13Q14 |
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Microphthalmia, Epicanthus, Ptosis |
ORPHA:1587 |
Eisenmenger Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... |
ORPHA:97214 |
Branchiooculofacial Syndrome |
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Telecanthus, Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, L... |
OMIM:113620 |
Cutis Laxa, Autosomal Dominant 1 |
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Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum |
OMIM:123700 |
Xeroderma Pigmentosum, Complementation Group B |
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Microphthalmia |
OMIM:610651 |
Focal Dermal Hypoplasia |
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Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ... |
OMIM:305600 |
Renal Agenesis |
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Ventricular septal defect, Anal atresia |
ORPHA:411709 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Orbital cyst, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Bardet-Biedl Syndrome 20 |
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Atrial septal defect |
OMIM:619471 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia |
OMIM:600901 |
Autoimmune Lymphoproliferative Syndrome |
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Gastritis, Hepatitis, Hydrops fetalis, Colitis, Recurrent aphthous stomatitis, Abnormal vitamin B... |
ORPHA:3261 |
Holoprosencephaly 2 |
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Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia |
OMIM:227650 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... |
OMIM:309800 |
Transcobalamin Ii Deficiency |
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Abnormal blood folate concentration |
OMIM:275350 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Atrial septal defect, Anal ... |
ORPHA:49 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Everted lower lip vermilion |
OMIM:253280 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Enamel hypoplasia, Increased circulating lactate dehydrogenase concentration |
OMIM:309000 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia |
OMIM:127000 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Bilateral microphthalmos, Persistence of primary teeth |
ORPHA:93325 |
Holoprosencephaly 1 |
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Microphthalmia, Median cleft lip and palate |
OMIM:236100 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |