banner
Genes Phenotypes Help, News, Blog

Gene: Dhrs3 MGI:1315215

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dehydrogenase/reductase 3
Synonyms:
Rsdr1,  retSDR1,  dehydrogenase/reductase (SDR family) member 3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dhrs3 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dhrs3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Klippel-Feil Syndrome 2, Autosomal Recessive
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
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexi... OMIM:616549
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Joint stiffness, Micrognathia,... ORPHA:1388
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef... OMIM:618845
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Epicanthus, Ventricular septal defect, Short stature, Patent ductus arterio... OMIM:617159
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of t... ORPHA:2345
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Ptosis, Epicanthus, Dilation of Virchow-Robin spaces,... OMIM:617190
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Missing ribs, Hemivertebrae, Double outlet right ventric... OMIM:220210
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Accelerated skeletal maturatio... ORPHA:1354
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Thin upper lip vermilion, Ventricular septal defe... OMIM:615583
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... OMIM:618000
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Short stature, M... ORPHA:2332
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Lamb-Shaffer Syndrome
Hyperactivity, Epicanthus, Mild postnatal growth retardation, Micrognathia, Fused cervical verteb... ORPHA:530983
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Postnatal grow... OMIM:179613
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Ptosis, Short stature, Narrow mouth, Growth delay, Downturned corners of mouth, Wide mouth, Long ... OMIM:617333
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... OMIM:231060
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Arthritis, Abnormal cardiac se... ORPHA:1937
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Micrognathia, Kyphosis, Cleft lip, Dysplastic tricus... ORPHA:1724
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... OMIM:178110
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Compul... ORPHA:352490
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... ORPHA:1436
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Epicanthus, Ventricular septal defect, Impulsivity, Deep philtrum, Patent ductus arte... OMIM:619717
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Mal... ORPHA:2522
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Cleft palate, High palate, Scoliosis, Arthrogryposis mul... OMIM:615731
Spondylocostal Dysostosis 1, Autosomal Recessive
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
Sacral dimple, Ventricular septal defect, Micrognathia, Delayed skeletal maturation, Thick lower ... OMIM:608227
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... OMIM:113000
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... OMIM:309620
Thakker-Donnai Syndrome
Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned corne... ORPHA:1780
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Kniest Dysplasia
Arthropathy, Enlarged joints, Short neck, Aplasia/hypoplasia of the extremities, Delayed epiphyse... ORPHA:485
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Abnormal ver... ORPHA:915
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palat... OMIM:619227
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Short neck, Absent thumb, Short thumb, Short 1st metaca... OMIM:609053
14Q11.2 Microdeletion Syndrome
Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Highly arched eyebrow, Micrognath... ORPHA:261120
Fetal Trimethadione Syndrome
Epicanthus, Ventricular septal defect, Micrognathia, Synophrys, High palate, Transposition of the... ORPHA:1913
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Lateral Meningocele Syndrome
Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, High palate, Vertebral fusion, ... OMIM:130720
Chromosome 8Q22.1 Duplication Syndrome
Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangeal joint contrac... OMIM:151200
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Ankyloblepharon, Cleft palate ORPHA:1074
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Short stature, Short thumb, Short toe, Short distal phalanx of the thum... ORPHA:370010
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short hallux, Elbow dislocation, Short thumb, Limitation of joint... ORPHA:90650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Short neck, ... ORPHA:508498
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Upslanted palpebral fissure, High palate, Narrow mouth, Microphthalmia ORPHA:2528
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Orbital cyst OMIM:251505
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Koolen-De Vries Syndrome
Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, Microdontia, Vertebral... ORPHA:96169
16P13.11 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Aggressive behavior, Coarctation of aorta, Joint hyp... ORPHA:261243
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vertebral fusion, ... OMIM:610443
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Aggress... ORPHA:254351
Li-Campeau Syndrome
Telecanthus, Ventricular septal defect, Short stature, Patent ductus arteriosus, Patellar hypopla... OMIM:619189
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Edema OMIM:616570
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft palate, Cleft upper lip OMIM:106250
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Bicuspid aortic valve, Ventricular septal defect, Sclerotic cranial sutu... ORPHA:371428
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Blephar... OMIM:601349
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood OMIM:253300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect, Death in infancy OMIM:614876
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Short metatarsal, Oligodontia, Spina bifida occulta, Wrist ... ORPHA:1826
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Tracheobronchomalacia, Synophrys, Atrial se... OMIM:613458
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septa... ORPHA:401935
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Thin upper lip vermilion, Overriding aorta, Micrognathia, Patent ductus arteri... ORPHA:3304
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Joint stiffness, High, narrow palate, Micrognathia, Cleft ... ORPHA:2516
Coenzyme Q10 Deficiency, Primary, 7
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosi... OMIM:616276
Hadziselimovic Syndrome
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Short stature, Delayed skeletal m... OMIM:612946
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Lumbar hyperlordosis, Synophrys, Pica, Downturned corners of mouth, Lumbar scolios... OMIM:617796
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Cleft upper lip, Microg... OMIM:612561
Coffin-Siris Syndrome 6
Atrial septal defect, Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, High, narrow palat... OMIM:617808
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Vertebral artery hypoplasia, Block vertebrae, Abnormal odontoid ... OMIM:613686
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Shallow orbits, B... OMIM:101200
Frontoocular Syndrome
Epicanthus, Micrognathia, Blepharophimosis, Narrow philtrum, Upslanted palpebral fissure, High pa... OMIM:605321
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
8Q12 Microduplication Syndrome
Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Narrow mouth, Short fo... ORPHA:228399
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Joint stiffness, Micrognathia, Cleft palate, Tooth agen... ORPHA:1166
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... OMIM:618316
Cleft Palate-Lateral Synechia Syndrome
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
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
Ventricular septal defect, Short stature, Postnatal growth retardation, Short middle phalanx of t... OMIM:614326
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Epicanthus, Bicuspid aortic valve, Aggressive beh... OMIM:619149
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Epicanthus, Short stature, Delayed closure of the anterior fontanel... OMIM:614886
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Highly arched eyebrow, Aplasia/Hypoplasia of th... ORPHA:94066
Li-Ghorbani-Weisz-Hubshman Syndrome
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
Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Patent foramen o... ORPHA:444077
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Pentasomy X
Short stature, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short... ORPHA:11
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Epicanthus, Short stature, Sparse eyelashes, Micrognathia, Pericardial effusion... OMIM:620070
2Q24 Microdeletion Syndrome
Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia, Downslanted palp... ORPHA:1617
Gombo Syndrome
Microphthalmia OMIM:233270
Abruzzo-Erickson Syndrome
Epicanthus, Short stature, Short toe, Cleft palate, Radioulnar synostosis, Atrial septal defect, ... ORPHA:921
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... OMIM:606612
3C Syndrome
Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tricuspid... ORPHA:7
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... OMIM:139210
16P12.1P12.3 Triplication Syndrome
Unilateral ptosis, Nail-biting, Hyperactivity, Epicanthus, Thick eyebrow, High, narrow palate, Ab... ORPHA:485405
Desbuquois Syndrome
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
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Short stature, Short neck, Kyphosis, Cleft lip, Patent ductus arteriosus, Hemivertebr... OMIM:618223
Mmep Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3434
Chromosome 5Q12 Deletion Syndrome
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
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short stature, Highly arched ... OMIM:617452
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... OMIM:306955
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Short neck, Downturned corners of mouth, High palate, Widely spaced teeth,... ORPHA:369891
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Hypoplasia ... ORPHA:776
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Down Syndrome
Short palm, Atrial septal defect, Atrioventricular canal defect, Patent foramen ovale, Joint laxi... OMIM:190685
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Epicanthus, Short stature, Accessory oral frenulum, Flexion contracture, Osteolysis involving bon... ORPHA:88630
19P13.3 Microduplication Syndrome
Hyperactivity, Epicanthus, Ventricular septal defect, Telecanthus, Kyphoscoliosis, Micrognathia, ... ORPHA:447980
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Short stature, Short thumb, Short middle phalanx of f... ORPHA:391646
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Short stature, Dental crowding, Micrognathia, Delayed skeletal m... ORPHA:228410
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Epicanthus, Ventricular septal defect, Aggressive behavior, Synophrys, Self-biting... ORPHA:3306
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Pica, Downturned corners of mouth, Short philtrum, Microdontia, Atrial se... OMIM:617360
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Abnormal repetitive mannerisms, Patent du... OMIM:617044
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, Micrognathia, Patent d... OMIM:618142
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Anencephaly 2
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Median cleft palate, Short palpeb... OMIM:619452
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Ventricular septal defe... OMIM:616651
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... ORPHA:1248
Al Kaissi Syndrome
Thin upper lip vermilion, Sacral dimple, Epicanthus, Short stature, Macrodontia, Telecanthus, Pos... OMIM:617694
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Ptosis, Short stature, Thick lower lip vermilion, Wide mouth, Short phi... OMIM:616938
Hartsfield Syndrome
Telecanthus, Non-midline cleft lip, Cleft palate, Microphthalmia, Downslanted palpebral fissures,... ORPHA:2117
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Short stature, Dental crowding, Delayed s... OMIM:617877
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Dextrocardia, Camptodactyly of finger, Abnormality of t... ORPHA:2863
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Epicanthus, Ventricular septal defect, Short stature, Postnatal growth retardation, Metopic sutur... ORPHA:3369
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Kyphosis... OMIM:619909
Diamond-Blackfan Anemia 7
Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus ... OMIM:612562
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... OMIM:171480
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Micrognathia, Cleft lip, Upper eyelid coloboma, Cleft palate, Scoliosi... ORPHA:398156
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... ORPHA:93315
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... OMIM:614262
Baraitser-Winter Syndrome 2
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
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... OMIM:618363
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Vertebral cl... OMIM:301043
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Generalized joint laxity, Abnormal aortic arch morphology, S... ORPHA:1596
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... OMIM:118100
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Ventricular septal defect, Short stature, Patent ductus arteriosus, Oli... OMIM:618330
Thomas Syndrome
Downslanted palpebral fissures, Oligohydramnios, Cleft palate, Cleft upper lip ORPHA:3316
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Scoli... ORPHA:352641
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... ORPHA:2515
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Short stature, Intestinal malrotation, Thoracic aortic a... OMIM:619657
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration, Hepat... ORPHA:209902
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Short stature, Ventricular septal defect, Sagittal cranios... OMIM:145420
Contractural Arachnodactyly, Congenital
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, High palat... OMIM:121050
Atelis Syndrome 1
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
Hyperextensibility of the finger joints, Sacral dimple, Thin upper lip vermilion, Limb joint cont... ORPHA:505237
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hy... ORPHA:87
Trigonocephaly With Short Stature And Developmental Delay
Epicanthus, Ventricular septal defect, Short stature, Sagittal craniosynostosis, High palate, Bro... OMIM:314320
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Downslanted palpebral fissures OMIM:619981
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, M... OMIM:607155
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Kabuki Syndrome 2
Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Joint laxity, Sho... OMIM:300867
Emanuel Syndrome
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
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Epicanthus, Kyphoscoliosis, ... OMIM:620075
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Ventricular septal defect, Short stature, Joint stiffness, Postnatal growth re... OMIM:620210
Waardenburg Syndrome Type 3
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
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
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
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Hypercholanemia, Familial, 2
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
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
Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, P... OMIM:258315
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef... OMIM:109400
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect, Short neck, Micrognathia, Downturned corners of mouth, Pla... ORPHA:93267
Kbg Syndrome
Short palm, Vertebral fusion, Telecanthus, Tented upper lip vermilion, Short stature, Macrodontia... OMIM:148050
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra... ORPHA:79345
White Forelock With Malformations
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
Osteopenia, Telecanthus, Short femur, Fractured radius, Ventricular septal defect, Short neck, Mu... OMIM:616897
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Intellectual Developmental Disorder, Autosomal Dominant 48
Joint laxity, Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Highly arched eyeb... OMIM:617751
Multiple Epiphyseal Dysplasia, Lowry Type
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
Low serum calcitriol, Osteoporosis OMIM:259750
17Q23.1Q23.2 Microdeletion Syndrome
Sacral dimple, Epicanthus, Short stature, Malar flattening, Highly arched eyebrow, Patent ductus ... ORPHA:261279
Xk Aprosencephaly Syndrome
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
Ventricular septal defect, Joint stiffness, Absent thumb, Kyphosis, Patent ductus arteriosus, Ano... ORPHA:392
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... OMIM:194190
Craniofaciofrontodigital Syndrome
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
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina... OMIM:270100
Growth Retardation, Developmental Delay, And Facial Dysmorphism
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
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
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
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
Anophthalmia, Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue, Aplasia/Hypoplasia... ORPHA:564
Meckel Syndrome 14
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:619879
Fraser Syndrome 1
Abnormal small intestine morphology, Absent eyebrow, Anophthalmia, Dental crowding, Cleft upper l... OMIM:219000
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Steinfeld Syndrome
Microphthalmia, Bifid uvula, Median cleft lip and palate OMIM:184705
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... ORPHA:464
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Hypoplasia of eyelid, Flexion contractu... OMIM:619321
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale ORPHA:542306
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal... ORPHA:436252
Multiple Myeloma
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
Buphthalmos, Microphthalmia OMIM:616538
Joubert Syndrome 2
Microphthalmia, High palate OMIM:608091
Histiocytoid Cardiomyopathy
Microphthalmia, Cleft palate, Congenital aphakia, Pulmonary edema ORPHA:137675
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus... ORPHA:141127
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... OMIM:308300
Roberts Syndrome
Polyhydramnios, Cleft upper lip, Cleft palate, High palate, Microphthalmia ORPHA:3103
Pearson Syndrome
Ptosis, Postnatal growth retardation, Dysphagia, Abnormal heart morphology, Growth delay, Cardiom... ORPHA:699
Isolated Arrhinia
Microphthalmia, Eyelid coloboma ORPHA:1134
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Thin upper lip vermilion, Epicanthus, Polyhydramnios, High, narrow... OMIM:613406
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Linear Nevus Sebaceus Syndrome
Microphthalmia, Telecanthus ORPHA:2612
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Fanconi Anemia, Complementation Group D2
Blepharophimosis, Microphthalmia, Esophageal atresia, Tracheoesophageal fistula OMIM:227646
Early Infantile Epileptic Encephalopathy
Hyperactivity, Ventricular septal defect, Cleft palate, Self-injurious behavior, Short finger ORPHA:1934
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Carious teeth, Keratoconjunctivitis sicca, Microphthalmia, Enamel ... ORPHA:90324
Cleft Soft Palate
Cleft soft palate OMIM:119570
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Short metatarsal, Tracheoesophag... OMIM:107480
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Ptosis ORPHA:42775
Cockayne Syndrome
Elevated hepatic transaminase, Abnormal dental morphology, Delayed eruption of primary teeth, Car... ORPHA:191
Cockayne Syndrome B
Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hypop... OMIM:133540
Juvenile Nephropathic Cystinosis
Low levels of vitamin D, Elevated alkaline phosphatase of bone origin, Dehydration ORPHA:411634
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, Abnorma... ORPHA:2556
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos, Abnormality of the orbital region, Upslanted pa... ORPHA:468631
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Tetraamelia Syndrome 1
Microphthalmia, Anal atresia, Cleft palate, Cleft upper lip OMIM:273395
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Patent foramen ovale OMIM:225250
Monosomy 13Q14
Microphthalmia, Epicanthus, Ptosis ORPHA:1587
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho... ORPHA:97214
Branchiooculofacial Syndrome
Telecanthus, Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, L... OMIM:113620
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum OMIM:123700
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ... OMIM:305600
Renal Agenesis
Ventricular septal defect, Anal atresia ORPHA:411709
Microphthalmia, Syndromic 6
Anophthalmia, Orbital cyst, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula OMIM:607932
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Autoimmune Lymphoproliferative Syndrome
Gastritis, Hepatitis, Hydrops fetalis, Colitis, Recurrent aphthous stomatitis, Abnormal vitamin B... ORPHA:3261
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... OMIM:157170
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... OMIM:309800
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Penile Agenesis
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
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Everted lower lip vermilion OMIM:253280
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Enamel hypoplasia, Increased circulating lactate dehydrogenase concentration OMIM:309000
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Persistence of primary teeth ORPHA:93325
Holoprosencephaly 1
Microphthalmia, Median cleft lip and palate OMIM:236100
Norrie Disease
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
Hypoplasia of the iris, Microphthalmia OMIM:175780

Histopathology

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

There is no histopathology data for Dhrs3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dhrs3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The retinaldehyde reductase activity of DHRS3 is reciprocally activated by retinol dehydrogenase 10 to control retinoid homeostasis. The Journal of biological chemistry (April 2014) Dhrs3tm1(NCOM)Mfgc PMC4031538

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Dhrs3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter