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Gene: Zic3 MGI:106676

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

zinc finger protein of the cerebellum 3

Synonyms:

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 Zic3 mutations

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

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

Human diseases associated with Zic3 (2 diseases)
Human diseases predicted to be associated with Zic3 (2151 diseases)

The table below shows human diseases associated to Zic3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Heterotaxy, Visceral, 1, X-Linked		Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c...	OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus		Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag...	OMIM:314390

The table below shows human diseases predicted to be associated to Zic3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ataxia, Sensory, 1, Autosomal Dominant	Dysesthesia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Impaired distal ...	OMIM:608984
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle...	OMIM:601216
Mcdonough Syndrome	Mandibular prognathia, Dental malocclusion, Open bite, Low-set, posteriorly rotated ears, Microgn...	ORPHA:2471
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro...	OMIM:614575
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Plagiocephaly, Atres...	ORPHA:2673
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Narrow face, Dental crowdi...	ORPHA:776
Primary Condylar Hyperplasia	Abnormality of the temporomandibular joint, Macrodontia, Facial asymmetry, Abnormal mandible cond...	ORPHA:477781
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea...	OMIM:614669
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus carinatum, Hypoplasia of the maxilla, Mandibular prognathia, Narrow chest, Narrow face, Lo...	OMIM:300676
Camptodactyly Syndrome, Guadalajara Type 1	Open bite, Narrow mouth, High palate, Long face, Pectus carinatum, Flat face, Microcornea, Downtu...	ORPHA:1327
Spinocerebellar Ataxia 6	Cerebellar atrophy, Vertigo, Dysmetria, Ataxia, Truncal ataxia, Abnormal vestibulo-ocular reflex,...	OMIM:183086
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Hemifacial atrophy, Tongue atrophy, Kyphosis, Sho...	OMIM:141300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Short philtrum, Thi...	OMIM:156510
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Chronic otitis media,...	ORPHA:61
Maxillonasal Dysplasia, Binder Type	Large earlobe, Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae	OMIM:155050
Non-Syndromic Genetic Deafness	Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine...	ORPHA:87884
Maxillonasal Dysplasia	Flat face, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis, Open bite, Patchy di...	ORPHA:1248
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Kyphoscoliosis, Short stature, Anteverted ears, Macrotia	OMIM:615541
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall...	OMIM:618300
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry	OMIM:133900
X-Linked Intellectual Disability, Sutherland-Haan Type	Narrow face, Hypoplasia of the maxilla, Brachycephaly, Short stature, Mandibular prognathia, Long...	ORPHA:93950
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va...	ORPHA:2972
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Dental malocclusion, Short stature, Scoliosis, Mandibular prognathi...	ORPHA:1858
Stickler Syndrome Type 1	Platyspondyly, Cataract, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis m...	ORPHA:90653
X-Linked Intellectual Disability, Porteous Type	Narrow face, Hypoplasia of the maxilla, Cupped ear, Short stature, Short philtrum, Mandibular pro...	ORPHA:93945
20P12.3 Microdeletion Syndrome	Pectus carinatum, Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Atria...	ORPHA:261295
Three M Syndrome 2	Thin ribs, Pectus carinatum, Severe short stature, Dental malocclusion, Delayed eruption of teeth...	OMIM:612921
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Dental malocclusion, Widely spaced teeth, Malar flattening, Attached earlobe, Short sta...	OMIM:616108
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss...	ORPHA:83451
Short Stature-Wormian Bones-Dextrocardia Syndrome	Low-set ears, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Micrognathia, W...	ORPHA:2863
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me...	ORPHA:401942
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft...	OMIM:602483
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Aarskog-Scott Syndrome	Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of tee...	ORPHA:915
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Absent tragus, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of...	ORPHA:79113
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Cervical kyphosis, Rhizomelia, Elbow dislocation, Knee dislocation, Fr...	OMIM:108721
Genitopalatocardiac Syndrome	Cleft upper lip, Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Tra...	OMIM:231060
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Low-set ears, Dental malocclusion, Diastema, Micrognathia, Malar flattening, Juvenile cataract, A...	ORPHA:436245
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Intrauterine g...	ORPHA:1908
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Abnormal corpus callosum morphology, Abnormal vertebral morphology,...	ORPHA:280195
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conductive hearing impairme...	OMIM:616367
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Posterior wedging of vertebral bodies, Carious teeth, Delayed eruption...	ORPHA:50814
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Dysdiadochokinesis, Gait ataxia, Dysmetria, Sensorineural hearing impairment, Vestibular areflexi...	ORPHA:504476
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Intrauteri...	ORPHA:2570
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Flat face, Hypoplasia of ...	ORPHA:1798
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla	ORPHA:2776
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hypoplasia of the ...	OMIM:611134
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Protruding ear, Widely-spac...	OMIM:618737
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,...	OMIM:608154
Potocki-Lupski Syndrome	Dental malocclusion, Dental crowding, Hearing impairment, Trigonocephaly, Micrognathia, Wide mout...	OMIM:610883
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C...	OMIM:619142
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Flat face, Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormally prominent l...	OMIM:109120
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Mulibrey Nanism	Iris coloboma, Microglossia, Dental malocclusion, Dental crowding, Frontal bossing, Intrauterine ...	OMIM:253250
Diabetic Embryopathy	Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Abnormal aorti...	ORPHA:1926
Intellectual Developmental Disorder, X-Linked 58	Narrow face, Short philtrum, Dental malocclusion, Long face	OMIM:300210
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Crouzon Syndrome	Iris coloboma, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mult...	ORPHA:207
Harrod Syndrome	Narrow face, Cataract, Dental malocclusion, Abnormal shoulder morphology, Intrauterine growth ret...	ORPHA:2115
Craniofacial-Deafness-Hand Syndrome	Narrow face, Hypoplasia of the maxilla, Flat face, Camptodactyly of finger, Abnormality of the wr...	ORPHA:1529
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog...	OMIM:246560
Deafness, Autosomal Recessive 103	Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment	OMIM:616042
Intellectual Developmental Disorder, Autosomal Recessive 68	Protruding ear, Hypoplasia of the maxilla	OMIM:618302
Frontonasal Dysplasia 1	Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,...	OMIM:136760
Larsen-Like Syndrome	Low-set ears, Flat face, Joint dislocation, Dental malocclusion, Conductive hearing impairment, R...	OMIM:608545
Thoraco-Abdominal Enteric Duplication	Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Men...	ORPHA:1759
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax	OMIM:601809
Intellectual Disability, Buenos-Aires Type	Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal calvaria morphology, Den...	ORPHA:3079
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Pycnodysostosis	Carious teeth, Delayed cranial suture closure, Micrognathia, Mild conductive hearing impairment, ...	ORPHA:763
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con...	ORPHA:199306
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ...	ORPHA:93262
Pentalogy Of Cantrell	Polysplenia, Abnormal sternum morphology, Tetralogy of Fallot, Abnormal pericardium morphology, A...	ORPHA:1335
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Plagiocephaly, Dental malocclusion, Hearing impairment, Scaphocephaly, Open ...	OMIM:619149
Distal Deletion 13Q	Optic atrophy, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, ...	ORPHA:1590
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Flat face, Dental malocclusion, Widely-spaced maxillary central incis...	OMIM:619719
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Vertigo, Gait ataxia, Kinetic...	ORPHA:101110
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c...	OMIM:306955
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, Short stature, High palate	ORPHA:85279
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Long face, High palate, Mandibular prognathia, Mild short stature	OMIM:618292
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head	ORPHA:2975
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Micrognathia, Increased overbite...	OMIM:613684
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Abnormal mitral valve morphology, Sensorineural hearing im...	ORPHA:192
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Round face, Tarsal synostosis, Widel...	ORPHA:363417
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Cata...	OMIM:257850
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Synostosis of carp...	ORPHA:1106
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Shallow acetabular foss...	OMIM:201000
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Cataract, Microspherophakia,...	OMIM:277600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Dental crowding, Conductive hearing impairment, Long philtrum, 11 pairs of ribs, Sp...	OMIM:617877
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag...	OMIM:314390
Otodental Syndrome	Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Long face, Abnormality of canine, Cat...	ORPHA:2791
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis...	OMIM:615314
Nance-Horan Syndrome	Narrow face, Microcornea, Posterior Y-sutural cataract, Diastema, Supernumerary maxillary incisor...	OMIM:302350
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Bilateral elbow dis...	OMIM:166300
Malan Syndrome	Narrow face, Mandibular prognathia, Retrognathia, Gingival overgrowth, Narrow mouth, Astigmatism,...	OMIM:614753
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Abnormal lung lobation, Intestinal malrotati...	ORPHA:1666
Fetal Akinesia Deformation Sequence 4	Low-set ears, Retrognathia, 11 pairs of ribs, Micrognathia, Short neck, High palate, Posteriorly ...	OMIM:618393
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Neonatal death, Ventricular septal defect, Short neck, Hepatomegaly, Holopr...	OMIM:269860
Kagami-Ogata Syndrome	Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Bell-shaped thor...	OMIM:608149
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar...	ORPHA:79345
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding...	OMIM:123500
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Congenital Absence Of Upper Arm And Forearm With Hand Present	Stillbirth, Abnormal heart morphology, Abnormal cardiac septum morphology, Congenital malformatio...	ORPHA:294975
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Low-set ears, Intrauterine growth retardation, Micrognathia, Kypho...	ORPHA:96183
Mosaic Trisomy 20	Craniofacial asymmetry, Narrow chest, Cleft lip, Retrognathia, Hearing impairment, Spinal canal s...	ORPHA:1724
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Gait ataxia, Intention tremor, Ataxia, Cerebellar cortical atrophy, Abnormal vest...	ORPHA:247234
Martsolf Syndrome 1	Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Pectus carinatum, Cataract, Cardiomyo...	OMIM:212720
Pde4D Haploinsufficiency Syndrome	Flat face, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Frontal bossing, Abnorma...	ORPHA:439822
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Sensorineural hearing impairment, Torus palatinus,...	OMIM:144750
Noonan Syndrome 4	Low-set ears, Dental malocclusion, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Wide...	OMIM:610733
Vacterl/Vater Association	Occipital encephalocele, Intrauterine growth retardation, Abnormality of the gallbladder, Vertebr...	ORPHA:887
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Left superior vena cava draining directly to the left atrium, Unbalanced atrioventricular canal d...	OMIM:619657
Usher Syndrome, Type Ie	Congenital sensorineural hearing impairment, Vestibular areflexia	OMIM:602097
Primary Ciliary Dyskinesia	Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo...	ORPHA:244
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft...	ORPHA:2476
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Holoprosencephaly 9	Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, S...	OMIM:610829
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Low-set ears, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Downturned c...	ORPHA:93267
Seckel Syndrome 1	Low-set ears, Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contr...	OMIM:210600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Widely-spaced maxillary central incisors, Thick lower lip vermilion, Micrognathia, Vent...	OMIM:608227
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Senso...	ORPHA:2790
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri...	OMIM:613751
Lowry-Maclean Syndrome	High, narrow palate, Low-set ears, Hypoplasia of the maxilla, Growth delay, Retrognathia, Downtur...	ORPHA:2409
Meier-Gorlin Syndrome 4	Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Lateral clavicle hook, Thick lower lip ...	OMIM:613804
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Mitral valve p...	OMIM:182212
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Micrognathia, Genu valgum, Open mouth, Mitral valve prolapse,...	ORPHA:193
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla,...	OMIM:300280
Saethre-Chotzen Syndrome	Low-set ears, Hearing impairment, Prominent crus of helix, Delayed cranial suture closure, Open b...	ORPHA:794
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Hyperopic astigmatism, Crowded maxillary incisors	ORPHA:397973
Oligodontia	Short face, Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped...	ORPHA:99798
Limb Body Wall Complex	Progressive congenital scoliosis, Encephalocele, Ventricular septal defect, Atrial septal defect,...	ORPHA:2369
Vestibulocochlear Dysfunction, Progressive	Tinnitus, Vestibular areflexia, Progressive hearing impairment	OMIM:193005
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Low-set ears, Pectus carinatum, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Tho...	ORPHA:481152
8Q22.1 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodacty...	ORPHA:178303
Double Outlet Right Ventricle	Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Narrow mouth, Heterotaxy, Su...	ORPHA:3426
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys...	OMIM:208530
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Vestibular areflexia, Sensorineural hearing impairment	OMIM:609006
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Intrauterine growth retardation, Cerebral calcification, Patent foramen ovale...	ORPHA:89844
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F...	ORPHA:1727
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Brachycephaly, Facial asymmetry, High palate, Scoliosis, Long face, Ma...	OMIM:218000
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Marshall Syndrome	Thick upper lip vermilion, Micrognathia, Genu valgum, Sensorineural hearing impairment, High pala...	ORPHA:560
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Microcornea, Hearing impairment, Umbilical hernia, Abnormal heart morp...	OMIM:601499
Holoprosencephaly 7	Flat face, Hypoplasia of the premaxilla, Iris coloboma, Unilateral cleft lip, Macrotia, Frontal b...	OMIM:610828
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption ...	OMIM:612350
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Ventricular septal defect, Truncus arteriosus, Microcephaly, Cleft palate	OMIM:601355
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Gastroesophageal reflux, Situs inversus totalis, Recurrent sinusitis, Chroni...	OMIM:615482
Frontorhiny	Cranium bifidum occultum, Hypoplasia of the maxilla, Iris coloboma, Cataract, Camptodactyly of fi...	ORPHA:391474
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Tooth malposition, Ventricular septal defect, High palate, Lens luxation, ...	OMIM:608328
Marden-Walker Syndrome	High, narrow palate, Low-set ears, Joint contracture of the hand, Long philtrum, Abnormal sternum...	OMIM:248700
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Acrootoocular Syndrome	High, narrow palate, Low-set ears, Dental malocclusion, Delayed eruption of teeth, Atresia of the...	ORPHA:2980
Frontometaphyseal Dysplasia 1	Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral valve prola...	OMIM:305620
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Childhood onset sensorineu...	ORPHA:251061
Ayme-Gripp Syndrome	Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Sensorineural hea...	OMIM:601088
Craniolenticulosutural Dysplasia	Bifid uvula, Narrow chest, Posterior wedging of vertebral bodies, Carious teeth, Delayed eruption...	OMIM:607812
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Round face, High p...	OMIM:618363
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Hearing impairment, Aplasia/Hypoplasia of the iris, Microdontia, Hypod...	ORPHA:782
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Type II lissencephaly, Agenesis of corpus callos...	ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Chiari type II malformation, Bell-shaped thorax, Short...	OMIM:613686
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Hearing impairment, Recurrent otiti...	OMIM:602849
Skraban-Deardorff Syndrome	Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, Right aortic arch, Ventricula...	OMIM:617616
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Bifid uvula, Occipital encephalocele, Sacral dimple, Di...	OMIM:614175
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Chiari malformation, Neonatal death, Ventricular septal def...	OMIM:265380
Shprintzen-Goldberg Syndrome	Low-set ears, Elbow dislocation, Micrognathia, Genu valgum, Mitral valve prolapse, High, narrow p...	ORPHA:2462
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, ...	ORPHA:2166
Heart Defects-Limb Shortening Syndrome	Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Abnormal tri...	ORPHA:1354
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Narrow chest, Aplastic clavicle, Hypoplasia of the brainstem, Hamar...	OMIM:616546
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	High, narrow palate, Low-set ears, Cataract, Malar flattening, Kyphoscoliosis, Atlantoaxial abnor...	ORPHA:3433
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Scapular winging, Pectus ...	OMIM:617258
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Low-set ears, Plagiocephaly, Cervical ribs, Micrognathia, Orofacial cleft, Deep philtrum, Abnorma...	ORPHA:77300
Diprosopus	Anencephaly, Abnormal cardiac septum morphology, Cleft palate	ORPHA:1681
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Severe short stature, Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, ...	OMIM:203550
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Abnormality of the ankle, Microglossia, Conductive ...	ORPHA:1307
Robinow Syndrome, Autosomal Dominant 2	Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hearing impairment, Oligodonti...	OMIM:616331
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Cerebellar hypoplasia, Absent brainstem auditory responses, Vestibular areflexia, Head titubation	ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Hypoplasia of the maxilla, Retrognathia, Hearing impairment, Micrognathia, Malar flatte...	OMIM:620157
Ck Syndrome	Narrow face, Dental crowding, Retrognathia, Micrognathia, Malar flattening, Posteriorly rotated e...	OMIM:300831
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Atrial septal defect, Agyria, ...	OMIM:253800
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f...	OMIM:241310
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Protruding ear, Short philtrum, Scoliosis, Kyphosis, Cleft palate, Promine...	ORPHA:85317
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognat...	OMIM:170390
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Sensorineural hea...	ORPHA:2662
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Biparietal narrowing, Thick vermilio...	ORPHA:228396
Andersen-Tawil Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dilated cardiomyopathy, De...	ORPHA:37553
Cowden Syndrome 5	Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo...	OMIM:615108
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn...	ORPHA:3145
Cleft Velum	Short face, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficienc...	ORPHA:99772
Meier-Gorlin Syndrome 5	Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Intrauterine growth re...	OMIM:613805
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	High palate, Dental malocclusion, Mandibular prognathia, Long face	OMIM:608931
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Pectus carinatum, Radioulnar synostosis, Abnormality of the philtru...	ORPHA:3268
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Cervical spine hypermobility, Hypoplasia of the odontoid process, Clef...	OMIM:305400
Pyle Disease	Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of...	OMIM:265900
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Conductive hearing impairment, Abnormal heart morphology, Microgna...	ORPHA:261197
Dislocation Of The Hip-Dysmorphism Syndrome	Congenital hip dislocation, Abnormal tricuspid valve morphology, Malar flattening, Narrow mouth, ...	ORPHA:2412
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Cerebellar Ataxia, Cayman Type	Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Truncal ataxia, Bradyki...	OMIM:601238
Hallermann-Streiff Syndrome	Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, Hi...	OMIM:234100
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated...	OMIM:620642
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Neonatal death, Cerebellar hypoplasia, Short neck, ...	OMIM:236500
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Frank-Ter Haar Syndrome	Low-set ears, Delayed cranial suture closure, Megalocornea, Micrognathia, Mitral valve prolapse, ...	OMIM:249420
Trichorhinophalangeal Syndrome, Type I	Pectus carinatum, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, G...	OMIM:190350
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le...	ORPHA:185
Kyphomelic Dysplasia	Flat face, Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, M...	ORPHA:1801
Van Maldergem Syndrome 1	Hypoplasia of the maxilla, Narrow chest, Dental malocclusion, Downturned corners of mouth, Atresi...	OMIM:601390
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impairment, Atresia of the e...	ORPHA:245
Neural Tube Defects, Susceptibility To	Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b...	OMIM:182940
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hearing impairment, Sp...	OMIM:101800
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of extern...	ORPHA:2399
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Disproportionate short-limb short sta...	OMIM:259440
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of the dentition, Conductive hea...	ORPHA:2095
Constricting Bands, Congenital	Abnormal rib cage morphology, Cleft upper lip, Encephalocele, Ectopia cordis, Scoliosis, Cleft pa...	OMIM:217100
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Micrognathia, Agenesi...	OMIM:252100
Mucopolysaccharidosis, Type Iva	Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Short neck, D...	OMIM:253000
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Retrognathia, Long philtrum, Abnormal heart morphology, Tetralogy of Fallot,...	ORPHA:96092
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hip contracture, Mitral valve prolapse, Protrusio acetabuli, Ankle flexion contract...	OMIM:259600
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia, Narrow chest, Anteriorly placed anus, Encephalocele, Agenesis of corpus cal...	OMIM:619148
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Basal gangl...	OMIM:620371
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Microcephaly, Tr...	ORPHA:1913
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Micrognathia, Narrow mouth, Evert...	OMIM:600920
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Narrow face, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, ...	OMIM:309520
Pierre Robin Syndrome	Cor pulmonale, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Trismus, Short sta...	OMIM:616583
Cowden Syndrome 6	Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo...	OMIM:615109
Acrodysostosis	Flat face, Hypoplasia of the maxilla, Joint dislocation, Delayed eruption of teeth, Abnormal form...	ORPHA:950
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:614679
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conjunctival hyperemia, Dolichocephaly	OMIM:167730
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Dental crowding, Downturned corners of mouth, Long philtrum, Micrognathia, Astigmat...	OMIM:615761
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Mosaic Trisomy 14	Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Frontal bossing, Microg...	ORPHA:1703
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Meckel Syndrome, Type 1	Occipital encephalocele, Chiari malformation, Large placenta, Agenesis of corpus callosum, Short ...	OMIM:249000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Abnormality of the dentition, Cataract, Dental malocclusion, Thick lower lip vermil...	ORPHA:85321
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Mandibular prognathia, Plagiocephaly, Long philtr...	ORPHA:1101
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Pectus carinatum, Exaggerated median tongue furrow, Dental crowding, Hyperplasia o...	ORPHA:313892
Mucopolysaccharidosis Type 4	Carious teeth, Hearing impairment, Genu valgum, Short neck, Pectus carinatum, Joint dislocation, ...	ORPHA:582
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Flat face, Joint dislocation, Large face, Open bi...	ORPHA:2097
Zimmermann-Laband Syndrome	Bifid uvula, Cataract, Growth delay, Large fleshy ears, Micrognathia, Wide mouth, Sensorineural h...	ORPHA:3473
Joubert Syndrome 18	Occipital encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Ventricula...	OMIM:614815
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:611884
Cleidocranial Dysplasia 2	Aplastic clavicle, Hypoplasia of the maxilla, Plagiocephaly, Hearing impairment, Genu valgum, Del...	OMIM:620099
Cri-Du-Chat Syndrome	Low-set ears, Bifid uvula, Narrow face, Microretrognathia, Growth delay, Downturned corners of mo...	OMIM:123450
Czeizel-Losonci Syndrome	Hypoplastic helices, Myelomeningocele, Low-set, posteriorly rotated ears, Thin calvarium, Microgn...	ORPHA:2437
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Dental crowding, Thick lower lip vermilion, Absent antihelix, Open mou...	ORPHA:293939
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Patent foramen ovale, Ventricular se...	OMIM:614261
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota...	OMIM:605376
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Frontal bossing, Abnormal palate morphology, Turricephaly, Mandibular ...	ORPHA:1540
Microhydranencephaly	Hydranencephaly, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Cerebellar...	OMIM:605013
Distal Duplication 5Q	Low-set ears, Flat face, Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Ventricular se...	ORPHA:96097
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Flat face, Plagiocephaly, Dental malocclusion, Widely spaced teeth, Frontal bossing...	OMIM:619293
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de...	OMIM:600001
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Pectus carinatum, Delayed eruption of teeth, Thick lower lip vermilio...	OMIM:619797
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re...	OMIM:616037
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Short neck, Bea...	OMIM:213980
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal clavicle morphology, Malar prominence, Abnormal dental morphology, Microgn...	ORPHA:2522
Kabuki Syndrome 2	Low-set ears, Natal tooth, Dental malocclusion, Hearing impairment, Macrotia, Atrioventricular ca...	OMIM:300867
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Cataract, Low-set, posteriorly rotated ears, Furrowed tongue, Micrognathia, Ma...	ORPHA:1387
Microphthalmia, Syndromic 9	Neonatal death, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic sp...	OMIM:601186
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, ...	OMIM:616202
Treacher-Collins Syndrome	Short face, Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Iris coloboma, Cat...	ORPHA:861
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Congenital alve...	OMIM:608978
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Brachyc...	OMIM:105830
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:270100
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Severe short stature, Per...	OMIM:231070
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, I...	ORPHA:2255
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly, Cleft palate	OMIM:614120
Intermediate Osteopetrosis	Abnormality of the dentition, Dental malocclusion, Sandwich appearance of vertebral bodies, Abnor...	ORPHA:210110
Frank-Ter Haar Syndrome	Genu recurvatum, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Wide mouth...	ORPHA:137834
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Coarse facial features, Everted lowe...	ORPHA:2429
Achard Syndrome	Brachycephaly, Micrognathia, Broad skull	OMIM:100700
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Flat face, Conductive hearing impairment, Delayed eruptio...	ORPHA:87
Usher Syndrome	Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus, Aplasia/Hypoplasia of t...	ORPHA:886
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Hypoplasia of the maxilla, Micrognathia, Hearing impairment	OMIM:301108
Van Maldergem Syndrome 2	Hypoplasia of the maxilla, Narrow chest, Dental malocclusion, Downturned corners of mouth, Hearin...	OMIM:615546
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft,...	ORPHA:2588
Meier-Gorlin Syndrome 1	Low-set ears, Thin ribs, Joint contracture of the hand, Elbow dislocation, Hearing impairment, At...	OMIM:224690
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Narrow m...	OMIM:265000
Recombinant Chromosome 8 Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Mi...	OMIM:179613
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Intrauterine growth retardat...	ORPHA:2257
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Retrognathia, Narrow mouth, Brachycephaly, Short stature, High palate, Gro...	ORPHA:2528
Mosaic Trisomy 9	Low-set ears, Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Ventricular septal def...	ORPHA:99776
Heart And Brain Malformation Syndrome	High, narrow palate, Cerebellar vermis hypoplasia, Interrupted aortic arch, Gastroesophageal refl...	OMIM:616920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathia, Thin upper lip vermilion, Cub...	OMIM:300534
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormality of the dentition, Microretrognathia, Abnormal clavicle morphology, Tetr...	ORPHA:276422
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Square face, Thick lower lip vermilion, Thick upper lip vermilion, Postnat...	OMIM:309545
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Cerebral c...	ORPHA:1393
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Round face, Everted lower...	OMIM:137550
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol...	ORPHA:2345
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Pectus carinatum, Postnatal growth retardation, Intrauterine growth retardation, Mi...	OMIM:615419
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Postnatal growth retardation, Micrognathia, Narrow mouth, Ventricular septal defect...	ORPHA:251028
Oliver Syndrome	Dental malocclusion, Camptodactyly of finger, Elbow flexion contracture, Intrauterine growth reta...	ORPHA:2920
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Micrognathia, Delayed puberty, High palate, Scoliosis, Kyphosis	ORPHA:2598
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Abnormal vertebral morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of c...	ORPHA:166024
Meier-Gorlin Syndrome 3	Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Short thorax, Patellar ...	OMIM:613803
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Carious teeth, Open bite, Low-set, posteriorly rotated ears, Micrognathia, ...	ORPHA:2617
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Friedreich Ataxia	Hearing impairment, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Impa...	ORPHA:95
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Hyperplasia of the maxilla	OMIM:613671
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Micrognathia, Ventricular septal defect...	OMIM:300373
Robinow Syndrome	Low-set ears, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permane...	ORPHA:97360
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:618063
Coffin-Siris Syndrome 6	High, narrow palate, Low-set ears, Plagiocephaly, Conductive hearing impairment, Retrognathia, Fr...	OMIM:617808
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Action tremo...	ORPHA:98762
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Protruding ear, Scoliosis, Mandibular prognathia, Kyphosis	OMIM:300861
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Short neck, ...	OMIM:612474
Premature Aging Syndrome, Penttinen Type	Thin ribs, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Delayed cranial su...	OMIM:601812
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Gastroesophageal reflux, Long philtrum, Intestinal malrotation, Tetralogy...	OMIM:618316
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Frontal...	ORPHA:40
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microglossia, Abnormal form of the vertebral bodies, Lumbar hyperlordosis, Bell-...	ORPHA:2839
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Joint contracture of the hand, Retrognathia, Umbilical hernia, Abnormal heart morph...	ORPHA:352490
Short Syndrome	Low-set ears, Cataract, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mou...	OMIM:269880
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Flat face, Hypoplasia of the maxilla, Do...	ORPHA:1299
Lateral Meningocele Syndrome	Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Ve...	ORPHA:2789
Cleidocranial Dysplasia	Short face, Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Gen...	ORPHA:1452
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Umbilical hernia, Intrauterine growth retardation, Micrognathia, Narrow mouth, Wide...	OMIM:615834
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Pectus carinatum, Situs inversus totalis, Mitral valve prolapse, Long face, Lens...	OMIM:609008
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro...	ORPHA:2326
Sclerosteosis 1	Tooth malposition, Broad clavicles, Dental malocclusion, Hearing impairment, Large face, Facial p...	OMIM:269500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Cataract, Macrotia, Short stature, Posteriorly rotated ears, Kyphosis, Delayed ...	OMIM:618392
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da...	OMIM:617967
Ciliary Dyskinesia, Primary, 44	Recurrent sinusitis, Bronchiectasis, Heterotaxy	OMIM:618781
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Narrow palate, Dental malocclusion, Hearing impairment, Down-slopin...	OMIM:227330
Hall-Riggs Syndrome	Platyspondyly, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the prim...	OMIM:234250
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Intrauterine growth ret...	ORPHA:251071
Congenital Herpes Simplex Virus Infection	Microcephaly, Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Cowden Syndrome 1	Cataract, Hypoplasia of the maxilla, Hearing impairment, Furrowed tongue, Micrognathia, Narrow mo...	OMIM:158350
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator...	OMIM:613807
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Marden-Walker Syndrome	Low-set ears, Micrognathia, Narrow mouth, Ventricular septal defect, Radioulnar synostosis, Abnor...	ORPHA:2461
Slc35A2-Cdg	Abnormal midbrain morphology, Gastroesophageal reflux, Cerebellar atrophy, Lateral ventricle dila...	ORPHA:356961
3M Syndrome	Thin ribs, Short neck, Everted lower lip vermilion, Abnormality of the elbow, Increased vertebral...	ORPHA:2616
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hypoplasia of the brainstem, Polymicrogyria, Intrauterine growth retardation, Ag...	OMIM:225790
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Microretrognathia, Carious teeth, Dental malocclusion, Cupped ear, Down-sloping sho...	OMIM:615560
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Malar prominence, Intrauterine growth retardation, Micrognathia, Abnormali...	ORPHA:48431
Ear-Patella-Short Stature Syndrome	Low-set ears, Elbow dislocation, Hearing impairment, Atresia of the external auditory canal, Micr...	ORPHA:2554
Renpenning Syndrome	High, narrow palate, Severe short stature, Narrow face, Iris coloboma, Growth delay, Cataract, Ab...	ORPHA:3242
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Type II lissencephaly, Postnatal growth retardation, Abnormal basal...	ORPHA:300570
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ...	OMIM:617478
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Conductive hearing impairment, Frontal boss...	ORPHA:3082
Distal Deletion 19P	Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ...	ORPHA:96129
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Plagiocephaly, Abnormal form of the vertebral bodies, Elbow d...	ORPHA:2916
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Micrognathia, Genu valgum, Narrow mouth, Hip contracture, Short n...	ORPHA:800
Greenberg Dysplasia	Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Large pl...	OMIM:215140
Nestor-Guillermo Progeria Syndrome	Thin ribs, Microretrognathia, Dental malocclusion, Dental crowding, Growth delay, Micrognathia, M...	OMIM:614008
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, Moyamoya phenom...	OMIM:300845
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Rhizomelia, Dental malocclusion, Ectopia pupillae, Recurrent otitis media, Postnat...	OMIM:608940
Flat Face-Microstomia-Ear Anomaly Syndrome	High, narrow palate, Abnormal oral mucosa morphology, Aplasia/Hypoplasia of the earlobes, Flat fa...	ORPHA:1968
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-l...	OMIM:259420
3P25.3 Microdeletion Syndrome	High, narrow palate, Abnormal thalamus morphology, Sacral dimple, Coronary artery atherosclerosis...	ORPHA:435638
Weismann-Netter Syndrome	Severe short stature, Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperosto...	OMIM:112350
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Limited elbow movement, Increased overbite, Protr...	ORPHA:319171
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Conductive hearing impairment, Atresia of the...	OMIM:608257
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Genu valgum, Mitral valve prolapse, Sensorineural he...	ORPHA:828
Turnpenny-Fry Syndrome	Low-set ears, Narrow mouth, Mitral valve prolapse, Atrial septal defect, High palate, Thoracic ky...	OMIM:618371
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat...	OMIM:615444
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear...	ORPHA:1131
Elsahy-Waters Syndrome	Low-set ears, Megalocornea, High palate, Cataract, Hypoplasia of the maxilla, Impacted tooth, Thi...	OMIM:211380
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Genu valgum, Narrow mouth, Ventricular septal defect, Absent frontal ...	OMIM:102500
Diastrophic Dysplasia	Neonatal short-limb short stature, Joint dislocation, Abnormal form of the vertebral bodies, Hypo...	ORPHA:628
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Hypoplasia of the zygomatic bone, Downturned corners of mouth, Low-set, posteriorl...	ORPHA:1110
Alexander Disease Type I	Scoliosis, Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral whit...	ORPHA:363717
Trisomy 18	Growth delay, Chiari malformation, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth...	ORPHA:3380
Cach Syndrome	Optic atrophy, Cerebellar atrophy, Growth delay, Lateral ventricle dilatation, Cerebral atrophy, ...	ORPHA:135
Cerebellar-Facial-Dental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Infancy onset short-trunk short...	ORPHA:444072
Schisis Association	Encephalocele, Microcephaly, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anencephaly, ...	ORPHA:63862
Pseudotrisomy 13 Syndrome	Cleft upper lip, Median cleft palate, Encephalocele, Complete atrioventricular canal defect, Vent...	OMIM:264480
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A...	ORPHA:99050
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Squared-off platyspon...	OMIM:271530
Basilar Impression, Primary	Craniofacial asymmetry, Abnormal cervical myelogram, Kyphoscoliosis, Short neck, Platybasia	OMIM:109500
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Ankyloglossia, Intrauterine growth retardation, Agenesis of corpus callo...	ORPHA:250989
Cardiac-Urogenital Syndrome	Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, In...	OMIM:618280
Meckel Syndrome, Type 2	Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Dandy-Walker malformation...	OMIM:603194
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Retrognathia, Velopharyngeal in...	ORPHA:363444
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Encephalocele, Cleft palate	ORPHA:217
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Dental malocclusion, Ectopia pupillae, Hemifacial hypoplasia, Persistenc...	OMIM:618727
Traboulsi Syndrome	Bifid uvula, Cataract, Dental malocclusion, Retrognathia, Ectopia lentis, Phakodonesis, Spontaneo...	OMIM:601552
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Short neck, Cleft lip,...	OMIM:616894
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Conductive hearing impairment, Coarse facial features, Abnormal rib mo...	ORPHA:1513
Trisomy 9P	Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth,...	ORPHA:236
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypop...	ORPHA:397715
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Retrognathia, Micrognathia, Short neck, High palate, Scoliosis, Kyphosis	OMIM:611890
Poland Syndrome	Short ribs, Rib fusion, Sprengel anomaly, Hemivertebrae, Dextrocardia	OMIM:173800
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Cataract, Band keratopathy, Dental malocclusion, Progressive sensorineural hearing i...	ORPHA:2959
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Nablus Mask-Like Facial Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Joint contracture of the h...	OMIM:608156
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Short neck, Atrial septal ...	OMIM:115150
Autosomal Recessive Stickler Syndrome	Platyspondyly, Flat face, Cataract, Micrognathia, Genu valgum, Malar flattening, Astigmatism, Sen...	ORPHA:250984
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Mandibular prognathia, Abnormal form of the vertebral bodies, Abnormal dental ename...	ORPHA:2180
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Frontal bossing, Oligodontia, Anodontia, Everted lower lip vermilion, Short sta...	ORPHA:276630
Myhre Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Enlarged vertebral pedicles, Narrow mout...	OMIM:139210
Alg3-Cdg	Hypoplasia of the pons, Cardiomyopathy, Decreased liver function, Hypoplasia of the corpus callos...	ORPHA:79321
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Trigonocephaly, Micrognathia, Thin upper lip vermilion, Abnormal facial shap...	ORPHA:329178
Takenouchi-Kosaki Syndrome	Low-set ears, Dental malocclusion, Downturned corners of mouth, Long philtrum, Widely spaced teet...	OMIM:616737
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Ectopia lentis, Umbilical hernia, Recurrent sinusitis, Mitral valve prolapse, ...	OMIM:130000
Distal 7Q11.23 Microdeletion Syndrome	Chiari malformation, Microcephaly, Atrial septal defect, Porencephalic cyst, Patent ductus arteri...	ORPHA:254351
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Platyspondyly, Microretrognathia, Coronal...	OMIM:616294
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingu...	ORPHA:96121
Severe Oculo-Renal-Cerebellar Syndrome	Narrow face, Mandibular prognathia, Cataract, Hypoplasia of the zygomatic bone, Large earlobe, Ma...	ORPHA:2715
Three M Syndrome 1	Postnatal growth retardation, Short neck, Mandibular prognathia, Hip dislocation, Joint dislocati...	OMIM:273750
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Polymicrogyria, Hypoplasia of the corpus callosum, Ventricular septal defect, Thoracic scoliosis,...	OMIM:603387
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Low-set ears, Hearing impairment, Delayed cranial suture closure, Pr...	OMIM:101400
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Optic atrophy, Cerebral atrophy, Aspiration pneumonia, Intrauterine growth ...	OMIM:619057
Thoracoabdominal Syndrome	Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly, Patent ductus ar...	OMIM:313850
Catel-Manzke Syndrome	Oral synechia, Ventricular septal defect, Atrial septal defect, Short stature, Glossoptosis, Clef...	ORPHA:1388
Pfeiffer Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding, Brachyturricephaly, Humeror...	OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia, Neural tube defect	OMIM:615041
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Micrognathia, Ventricular septal defect, Sensorineural hearing impairment, Radi...	OMIM:194190
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Flat face, Rhizomelia, Micrognathia, Malar flattening, Kyphoscoliosis, Sens...	OMIM:215100
Osteogenesis Imperfecta, Type Xx	Low-set ears, Narrow palate, Crumpled ear, Narrow chest, Asymmetry of the thorax, Retrognathia, D...	OMIM:618644
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:606763
Hamamy Syndrome	Low-set ears, Dental malocclusion, Long philtrum, Neck pterygia, Micrognathia, Complete atriovent...	OMIM:611174
Cerebrofacioarticular Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Caudal appendage, Abnormal heart morpho...	ORPHA:314679
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Aortic valve stenosis, Delayed cranial suture closure, Micrognathia, Flat occiput, ...	ORPHA:2780
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, Retrognathia, Intrauterine growth retardation, Triangular face, Hyperlordos...	OMIM:617352
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Double o...	OMIM:614886
3Mc Syndrome 2	Abnormal vertebral morphology, Caudal appendage, Downturned corners of mouth, Cleft upper lip, He...	OMIM:265050
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Umbilical hernia, Camptoda...	ORPHA:1488
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Narrow face, Kyphosis, Hypoplasia of the zygom...	ORPHA:958
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Low-set, posteriorly rotated ears, Micrognathia, Microdontia, Short n...	ORPHA:3191
Melnick-Needles Syndrome	Craniofacial hyperostosis, Anisospondyly, Tooth malposition, Narrow chest, Delayed eruption of te...	ORPHA:2484
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Communicating hydrocephalus, Agenesis of co...	ORPHA:1780
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal rib morphology, Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic v...	ORPHA:1120
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Shoulder flexion contracture, Long philtrum, Elbow flexion co...	OMIM:277720
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Catel-Manzke Syndrome	Low-set ears, Postnatal growth retardation, Genu valgum, Micrognathia, Narrow mouth, Ventricular ...	OMIM:616145
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent...	OMIM:620294
Goldberg-Shprintzen Syndrome	Low-set ears, Hypoplasia of the maxilla, Megalocornea, Oligodontia, Ventricular septal defect, Sh...	OMIM:609460
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Gen...	OMIM:253010
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri...	OMIM:616898
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Micrognathia, Abnormal antihelix morphology, Malar flattening, T...	ORPHA:2145
Intellectual Developmental Disorder, Autosomal Dominant 66	Pectus carinatum, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great...	OMIM:619910
Recon Progeroid Syndrome	Dental crowding, Growth delay, Prominence of the premaxilla, Smooth philtrum, Attached earlobe, R...	OMIM:620370
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Atrial septa...	OMIM:620663
Spastic Paraplegia 18B, Autosomal Recessive	High palate, Scoliosis, Kyphosis, Ankle clonus	OMIM:611225
Pfeiffer Syndrome	Flat face, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Turricephaly...	ORPHA:710
Phaver Syndrome	Abnormal form of the vertebral bodies, Myelomeningocele, Intrauterine growth retardation, Butterf...	ORPHA:2876
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o...	OMIM:617542
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Hypoplasia of ...	OMIM:619072
Achondrogenesis Type 1B	Severe short stature, Flat face, Narrow chest, Disproportionate short stature, Long philtrum, Umb...	ORPHA:93298
Charge Syndrome	Postnatal growth retardation, Abnormal cranial nerve morphology, Aqueductal stenosis, Holoprosenc...	ORPHA:138
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, High palate, Chronic otitis media, Flat occiput, Coronal craniosynos...	OMIM:614188
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv...	OMIM:615067
Metatropic Dysplasia	Severe short stature, Cataract, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of th...	ORPHA:2635
Femoral-Facial Syndrome	Low-set ears, Long philtrum, Micrognathia, Vertebral segmentation defect, Thin upper lip vermilio...	ORPHA:1988
Craniometadiaphyseal Dysplasia	Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Broad ribs, ...	OMIM:269300
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc...	ORPHA:289
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Frontal bossing, Abnormal denta...	ORPHA:2050
Split Lower Lip	Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit	OMIM:183400
Craniofacioskeletal Syndrome	Interrupted aortic arch, Intrauterine growth retardation, Absent gallbladder, Barrel-shaped chest...	OMIM:300712
Kyphoscoliotic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic...	ORPHA:536545
Osteoglophonic Dysplasia	Platyspondyly, Low-set ears, Hypoplasia of the maxilla, Hypoplastic scapulae, Rhizomelia, Delayed...	OMIM:166250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Postnatal growth retardation, Mi...	ORPHA:96334
Oculoskeletodental Syndrome	Abnormal thalamus morphology, Focal white matter lesions, Dysplastic corpus callosum, Stroke, Hyp...	ORPHA:557003
Zttk Syndrome	Low-set ears, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Hypopla...	OMIM:617140
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Neu-Laxova Syndrome 1	Lissencephaly, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical ...	OMIM:256520
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Ventricular septa...	OMIM:613680
Meckel Syndrome, Type 6	Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Cystic liver diseas...	OMIM:612284
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus...	OMIM:618845
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Abnormality of the internal ca...	ORPHA:467166
Lethal Congenital Contracture Syndrome Type 1	Abnormal form of the vertebral bodies, Low-set, posteriorly rotated ears, Micrognathia, Short nec...	ORPHA:1486
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Apert Syndrome	Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu...	OMIM:101200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Low-set ears, Peters anomaly, Long philtrum, Frontal bossing, Atrioventricular canal defect, Thin...	OMIM:618929
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Meckel Syndrome	Accessory spleen, Optic atrophy, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corp...	ORPHA:564
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Parastremmatic Dwarfism	Severe short stature, Genu valgum, Short neck, Scoliosis, Kyphosis	OMIM:168400
Clark-Baraitser syndrome	Genu recurvatum, Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thic...	OMIM:300602
Hadziselimovic Syndrome	Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Ventricular septal defec...	OMIM:612946
Eng-Strom Syndrome	Intrauterine growth retardation, Ventricular septal defect, Abnormal cardiac septum morphology, S...	ORPHA:1937
Cockayne Syndrome Type 2	Mandibular prognathia, Hearing impairment, Widely spaced primary teeth, Intrauterine growth retar...	ORPHA:90322
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Microphthalmia, Lenz Type	Abnormality of the dentition, Iris coloboma, Cataract, Abnormal clavicle morphology, Delayed erup...	ORPHA:568
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Abnormal helix morphology, Synostosis of carpal bones, Kyphosis, Moderate p...	ORPHA:1005
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Intrauterine growth retardation, Microdo...	ORPHA:2315
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Short stat...	ORPHA:3098
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Macrotia, Micrognathia, Abnormal a...	ORPHA:1598
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Sensorineural hearing im...	OMIM:300166
Flynn-Aird Syndrome	Cataract, Carious teeth, Progressive sensorineural hearing impairment, Kyphoscoliosis	OMIM:136300
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor...	ORPHA:3097
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Downturned corners of mouth, Abnormal heart morphology, Postnatal growth retardation, Low-set, po...	ORPHA:254525
Stickler Syndrome, Type I	Platyspondyly, Bifid uvula, Cataract, Conductive hearing impairment, Micrognathia, Malar flatteni...	OMIM:108300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal peripheral nervous system morphology, Hematochezia, Gastrointestinal hemorrhage, Diffuse...	ORPHA:464321
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Recurrent pneumonia, Dysgenesis of the cerebellar vermis, Lateral v...	OMIM:617751
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Aspiration pneumonia, Abnormal heart morphology, Focal T2 h...	ORPHA:79264
Fliedner-Zweier Syndrome	Cerebellar atrophy, Hypoplastic aortic arch, Hypoplasia of the corpus callosum, Ventricular septa...	OMIM:620511
Mirage Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Lymphopenia, Intrauterine growth retardation, Leuk...	OMIM:617053
Chromosome 16Q22 Deletion Syndrome	Low-set ears, Narrow chest, Growth delay, Frontal bossing, Postnatal growth retardation, Microgna...	OMIM:614541
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Abnormal sacral segmentation, Long philtrum, Hearing impairment, Postnatal growth r...	ORPHA:480907
Absence Of The Pulmonary Artery	Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab...	ORPHA:980
Anencephaly 2	Median cleft palate, Anencephaly	OMIM:619452
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Arthropathy, Coarse facial features, Corneal opacity, Kyp...	OMIM:277950
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Cataract, Downturned corners of mouth, Intrauterine growth retardation, Ena...	ORPHA:2643
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Sensorineural hearin...	ORPHA:1883
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis, Sensorineural hearing impairment	ORPHA:2744
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Hearing impairment, Thickened ribs, Short...	OMIM:122860
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Gastr...	ORPHA:2306
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, High palate, Flat o...	OMIM:613792
Codas Syndrome	Hypoplasia of the odontoid process, Delayed eruption of teeth, Lumbar scoliosis, Enamel hypoplasi...	OMIM:600373
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Short stature, Scoliosis, Kyphosis, Corneal erosion	ORPHA:816
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Short stature, Pate...	OMIM:249670
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Thin ribs, Joint dislocation, Cleft upper lip, Hypoplastic heart, Intrauterine grow...	OMIM:312150
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Conductive hearing impairment, Abnormality of the vertebral column, Cleft upper lip, Micrognathia...	OMIM:601076
Aicardi Syndrome	Block vertebrae, Plagiocephaly, Cleft upper lip, Butterfly vertebrae, Prominence of the premaxill...	ORPHA:50
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Abnormal thalamus morphology, Intestinal malrotation, Abnormal heart morphology, Abn...	ORPHA:404440
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Au-Kline Syndrome	Open mouth, Sensorineural hearing impairment, Thoracolumbar scoliosis, Lipomyelomeningocele, High...	OMIM:616580
Congenital Myopathy 17	Low-set ears, Narrow chest, Dental malocclusion, Long philtrum, Tented upper lip vermilion, Narro...	OMIM:618975
Hydrolethalus	Bifid uvula, Absent septum pellucidum, Submucous cleft hard palate, Agenesis of corpus callosum, ...	ORPHA:2189
Craniofacial-Deafness-Hand Syndrome	Flat face, Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment	OMIM:122880
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Thin upper lip vermilion, Persistent left superior vena cava, Overriding aor...	ORPHA:3304
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Growth delay, Tented upper lip vermilion, Abnormal antihelix morphology, P...	ORPHA:261144
Fanconi Anemia, Complementation Group S	Dental malocclusion, Thick upper lip vermilion, Macrodontia, Coarse facial features, Short statur...	OMIM:617883
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Cleft lip, Conical tooth, Atresia of the external auditory canal, Sele...	OMIM:106260
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Abnormal rib morphology, Posterior rib fusion, Intrauterine growth retardat...	ORPHA:1797
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia	OMIM:615297
Osteoglosphonic Dysplasia	Severe short stature, Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bo...	ORPHA:2645
Wieacker-Wolff Syndrome	Low-set ears, Broad alveolar ridges, Narrow chest, Kyphosis, Retrognathia, Long philtrum, Microgn...	OMIM:314580
Antley-Bixler Syndrome	Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Delayed c...	ORPHA:83
Mosaic Trisomy 16	Craniofacial asymmetry, Hearing impairment, Abnormal heart morphology, Intrauterine growth retard...	ORPHA:1708
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenita...	OMIM:130060
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone,...	ORPHA:1786
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Hearing impairment, Enlarged vertebral pedicles, Micrognathia, Genu val...	ORPHA:666
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ventricular septal defec...	OMIM:619995
Alagille Syndrome	Flat face, Keratoconus, Abnormal form of the vertebral bodies, Intrauterine growth retardation, M...	ORPHA:52
3C Syndrome	Aortic valve stenosis, Postnatal growth retardation, Abnormal mitral valve morphology, Ventricula...	ORPHA:7
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Congenital bilateral hip dislocation, Kyphosis, Cataract	ORPHA:85288
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Anomalous pulmo...	ORPHA:2311
Lateral Meningocele Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Short neck, High pa...	OMIM:130720
Ververi-Brady Syndrome	Intrauterine growth retardation, Microcephaly, Transposition of the great arteries, Short stature...	OMIM:617982
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Leukoencephalopathy, Abnormal basal ganglia MRI signal intensity, Gastro...	ORPHA:17
Wieacker-Wolff Syndrome, Female-Restricted	Low-set ears, Hip dislocation, Microretrognathia, Narrow chest, Downturned corners of mouth, Long...	OMIM:301041
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Tongue nodules, Microdontia, Short sternum, Bifid tongue, Pectus excav...	OMIM:258850
Chromosome 5Q12 Deletion Syndrome	Flat face, Long philtrum, Frontal bossing, Postnatal growth retardation, Micrognathia, Overfolded...	OMIM:615668
Codas Syndrome	Congenital hip dislocation, Crumpled ear, Flat face, Cataract, Abnormal form of the vertebral bod...	ORPHA:1458
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Cerebellar hypoplasia, Mi...	ORPHA:163979
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Short neck, Atrial septal defect, Dislocated radial head, Hypoplasia...	ORPHA:2044
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short stature, Pectus excavatum, Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:2835
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Postnatal growth retardation, Intrauterine growth retardation, Micrognath...	ORPHA:254531
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Postnatal growth retardation, Genu valg...	OMIM:223800
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Agenesis of cerebellar ...	OMIM:614424
Contractural Arachnodactyly, Congenital	Crumpled ear, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Hip contracture, Bi...	OMIM:121050
Mosaic Trisomy 8	Narrow chest, Hearing impairment, Camptodactyly of finger, Macrotia, Frontal bossing, Micrognathi...	ORPHA:96061
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Low-set ears, Cataract, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum,...	OMIM:618571
Ullrich Congenital Muscular Dystrophy	Hip dislocation, Elbow flexion contracture, Micrognathia, Knee flexion contracture, Abnormal pala...	ORPHA:75840
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Neonatal death, Ventricular septal defect, Cleft...	OMIM:615524
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Cerebral atrophy, Ventricula...	OMIM:613759
Trisomy 13	Low-set ears, Abnormal helix morphology, Abnormal antihelix morphology, Ventricular septal defect...	ORPHA:3378
Distal Duplication 6P	Low-set ears, Aplasia/Hypoplasia of the earlobes, Cataract, Frontal bossing, Intrauterine growth ...	ORPHA:1745
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Orofacial cleft, Hydrocephalus, Dextrocardia, Cleft palate	ORPHA:220493
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem, Secondary microcephaly, Diffuse cerebral ...	OMIM:613668
14Q11.2 Microdeletion Syndrome	Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, E...	ORPHA:261120
Megalocornea-Intellectual Disability Syndrome	Frontal bossing, Megalocornea, Hypoplasia of the iris, Micrognathia, Open mouth, Astigmatism, Sen...	ORPHA:2479
Cornelia De Lange Syndrome 2	Downturned corners of mouth, Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauter...	OMIM:300590
Coffin-Lowry Syndrome	Hearing impairment, Open mouth, Sensorineural hearing impairment, Everted lower lip vermilion, Hi...	OMIM:303600
Pseudoleprechaunism Syndrome, Patterson Type	Hyperplasia of the maxilla, Abnormal odontoid process morphology, Genu valgum, Joint swelling, Ky...	ORPHA:2976
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Bi...	ORPHA:1920
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat...	ORPHA:397725
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Abnormal sternum morphology, A...	ORPHA:314588
Faciocardiomelic Syndrome	Narrow chest, Dental malocclusion, Hyperplasia of the maxilla, Long philtrum, Micrognathia, Cuboi...	OMIM:612731
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Micrognathia, Pectus excavatum, Frontal bossing, Kyphosis, Sacral dimple	OMIM:618272
Barber-Say Syndrome	Low-set ears, Hypoplasia of the maxilla, Microtia, first degree, Dental malocclusion, Delayed eru...	OMIM:209885
Acalvaria	Abnormal lung lobation, Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate	ORPHA:945
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Pectus carinatum, Secundum atrial septal defect, Hyperplasia of the maxilla, Micrognathia, High p...	OMIM:620194
Chromosome 15Q25 Deletion Syndrome	Low-set ears, Growth delay, Cleft upper lip, Coronary artery fistula, Intrauterine growth retarda...	OMIM:614294
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Short neck, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Abnormal lower lip morphology, Abnormal aortic morphology, A...	ORPHA:1166
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect	OMIM:253300
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation, Ventricular septal defect, Atrial septal defect, Short stature, Pec...	OMIM:618330
Sonoda Syndrome	Short stature, Narrow mouth, Ventricular septal defect	OMIM:270460
Thanatophoric Dysplasia Type 2	Platyspondyly, Narrow chest, Kyphosis, Short thorax, Encephalocele, Hydrocephalus, Aplasia/Hypopl...	ORPHA:93274
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum, Protruding ear, Cu...	ORPHA:1778
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h...	OMIM:619534
Frontal Encephalocele	Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly, Dolichocephaly	ORPHA:1931
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Low-set ears, Iris coloboma, Cupped ear, Retrognathia, Hearing impairment, Ventricular septal def...	ORPHA:52055
Digeorge Syndrome	Hepatic steatosis, Intervertebral disk degeneration, Ventricular septal defect, High palate, Pate...	OMIM:188400
Coach Syndrome 1	Cerebellar vermis hypoplasia, Hepatic fibrosis, Elevated circulating hepatic transaminase concent...	OMIM:216360
Peters-Plus Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, Short lingual frenu...	OMIM:261540
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Abnormal lung lobation, Intrauterine growth retardation, Abnormal aortic mor...	ORPHA:2516
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Downturned corners of mouth, Hearing impairment, Intrauterine grow...	OMIM:616817
Aicardi Syndrome	Cataract, Block vertebrae, Cleft upper lip, Postnatal growth retardation, Butterfly vertebrae, Pr...	OMIM:304050
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Frontal bossing, Intrauterine growth...	OMIM:617602
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Dental malocclusion, Downturned corners of mouth, Long p...	ORPHA:487796
Fibrochondrogenesis 2	Platyspondyly, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Malar flattening, Short rib...	OMIM:614524
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal cortical gyration, Abnormal lung lobation, Intrauterine growth retarda...	OMIM:236680
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Volvulus, Abnormal odontoid process morphology, Encephalocele, Hypo...	ORPHA:314621
Spondyloepiphyseal Dysplasia Congenita	Hearing impairment, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow movement, Short...	ORPHA:94068
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Hyperopic astigmatism, Opacification of th...	OMIM:252600
Phelan-Mcdermid Syndrome	Dental malocclusion, Hearing impairment, Long philtrum, Widely spaced teeth, Sacral dimple, Micro...	OMIM:606232
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Frontal bos...	OMIM:265800
Seckel Syndrome 8	Short stature, Micrognathia, Kyphoscoliosis	OMIM:615807
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Kyphosis, ...	OMIM:607326
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Ventricular...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Open bite, Open mouth, Ventricular...	ORPHA:352665
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Thin ribs, Joint dislocation, Hypoplastic heart, Intrauterine growth retardation, M...	OMIM:253290
Lowry-Maclean Syndrome	Abnormal heart morphology, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate	OMIM:600252
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Thin u...	ORPHA:477817
Cerebrooculofacioskeletal Syndrome 2	Cataract, Hearing impairment, Camptodactyly of finger, Intrauterine growth retardation, Micrognat...	OMIM:610756
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Conductive h...	ORPHA:306542
Noonan Syndrome 12	Chiari malformation, Anteriorly placed anus, Tetralogy of Fallot, Decreased response to growth ho...	OMIM:618624
Myopathy, Centronuclear, X-Linked	Narrow face, Dental malocclusion, Dolichocephaly, High palate, Long face	OMIM:310400
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Narrow mouth, Holo...	OMIM:202650
14Q24.1Q24.3 Microdeletion Syndrome	Long philtrum, Intestinal malrotation, Abnormal heart morphology, Truncus arteriosus, Ventricular...	ORPHA:401935
Noonan Syndrome 1	Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, Ventricular septal ...	OMIM:163950
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Ankle flexion contracture, Joint contracture of the hand, Shoulder flexion c...	ORPHA:536516
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Intestinal atresia, Ventricular septal defect	OMIM:614326
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Ve...	OMIM:609029
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac...	OMIM:255800
Crisponi Syndrome	Long philtrum, Camptodactyly of finger, Large face, Micrognathia, Narrow mouth, High palate, Scol...	ORPHA:1545
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Achondrogenesis Type 1A	Severe short stature, Flat face, Narrow chest, Long philtrum, Umbilical hernia, Micrognathia, Mul...	ORPHA:93299
Koolen-De Vries Syndrome	Bicuspid aortic valve, Everted lower lip vermilion, Long face, Hip dislocation, High, narrow pala...	ORPHA:96169
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Feingold Syndrome 1	Interrupted aortic arch, Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Jej...	OMIM:164280
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Narro...	ORPHA:364028
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Abnormal rib morphology, Pectus excavatum, Cleft palate, Hypoplastic distal segment...	OMIM:602196
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Retrognathia, Long philtrum, Micrognathia, Ventricular septal defect, Thin upper...	OMIM:617061
Cutis Laxa, Autosomal Recessive, Type Iic	Low-set ears, Hypoplasia of the maxilla, Dental crowding, Long philtrum, Biventricular hypertroph...	OMIM:617402
Nemaline Myopathy 9	High palate, Cleft palate, Ventricular septal defect	OMIM:615731
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Coarctation of aorta, Atrial septal defect, S...	OMIM:615502
Leigh Syndrome	Neuronal loss in basal ganglia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, V...	ORPHA:506
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Tooth agenesis, Abnormal dental morpholo...	ORPHA:238468
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Thickened calvaria, Coarse fa...	OMIM:301900
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen...	ORPHA:49042
Meckel Syndrome, Type 5	Occipital encephalocele, Bile duct proliferation, Cleft palate, Anencephaly	OMIM:611561
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Growth delay, Hypoplasia of the zygomatic bone, Hearing impairment, Ca...	ORPHA:920
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Hypoplasia of the pons, Ventricular septal defect, Microcephaly, Atrial septal defect, Thin corpu...	OMIM:614249
Maternal Phenylketonuria	Hypoplastic left heart, Long philtrum, Tetralogy of Fallot, Abnormal heart morphology, Intrauteri...	ORPHA:2209
Rubinstein-Taybi Syndrome 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Postnatal growth retardation, M...	OMIM:180849
Spondyloenchondrodysplasia	Platyspondyly, Pectus carinatum, Dental malocclusion, Delayed eruption of teeth, Disproportionate...	ORPHA:1855
Cenani-Lenz Syndrome	Synostosis of joints, High, narrow palate, Cataract, Synostosis of carpal bones, Elbow dislocatio...	ORPHA:3258
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Low-set ears, Thin ribs, Rhizomelia, Frontal bossing, Intrauterine growth retardat...	ORPHA:163966
Flynn-Aird Syndrome	Cataract, Carious teeth, Progressive sensorineural hearing impairment, Scoliosis, Kyphosis	ORPHA:2047
Diets-Jongmans Syndrome	Umbilical hernia, Heterotaxy, Ventricular septal defect, Thin upper lip vermilion, Interrupted in...	OMIM:618846
Feingold Syndrome Type 2	Short stature, Ventricular septal defect, Jejunal atresia	ORPHA:391646
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular...	OMIM:616276
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed eruptio...	OMIM:119600
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Abnormality of the vertebral column, Camptodactyly of finger, Abnormal heart morpho...	OMIM:610758
Prune Belly Syndrome	Volvulus, Recurrent respiratory infections, Intestinal malrotation, Tetralogy of Fallot, Ventricu...	ORPHA:2970
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary microcepha...	OMIM:619306
Thanatophoric Dysplasia	Platyspondyly, Narrow chest, Disproportionate short-limb short stature, Kyphosis, Intrauterine gr...	ORPHA:2655
Oculofaciocardiodental Syndrome	Tooth malposition, Hearing impairment, Genu valgum, Mitral valve prolapse, Sensorineural hearing ...	ORPHA:2712
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Elbo...	ORPHA:2769
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A...	ORPHA:3253
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Carpenter Syndrome 2	Low-set ears, Carious teeth, Sensorineural hearing impairment, Short neck, Atrial septal defect, ...	OMIM:614976
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Hyperlordosis, Short stature, Scoliosis, Kyphosis, Spinal rigidity	OMIM:617404
Thiamine-Responsive Megaloblastic Anemia Syndrome	Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Strok...	OMIM:249270
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, Ventricular septal ...	OMIM:618619
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Intrauterine growth retardation, Ventricular septal ...	ORPHA:2515
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Anisospondyly, Flat face, Cataract, Occipital encephalocele, Thoracic hypop...	OMIM:224410
Martin-Probst Syndrome	Low-set ears, Dental malocclusion, Thick lower lip vermilion, Umbilical hernia, Micrognathia, Mal...	OMIM:300519
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, Atrial septal defect, Dextrocardia, High pal...	OMIM:277380
Schaaf-Yang Syndrome	Low-set ears, Mandibular prognathia, Retrognathia, Frontal bossing, Open mouth, Coarse facial fea...	OMIM:615547
Mucopolysaccharidosis Type 6	Hearing impairment, Thick lower lip vermilion, Abnormal heart valve morphology, Broad ribs, Genu ...	ORPHA:583
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Malar ...	OMIM:184100
Cockayne Syndrome B	Severe short stature, Microcornea, Carious teeth, Dental malocclusion, Abnormal auditory evoked p...	OMIM:133540
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Genu...	ORPHA:263463
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Cerebellar dysplasia, Hypoplasi...	ORPHA:500159
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Low-set ears, Flat face, Unilateral cleft lip, Thoracic hypoplasia, Large fleshy e...	OMIM:616897
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Gastroesophageal reflux, Dental crowding, Recurrent...	OMIM:619769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, 11 pairs of ribs, Co...	OMIM:615287
Auriculocondylar Syndrome 2B	Question mark ear, Postnatal growth retardation, Micrognathia, Narrow mouth, Mandibular condyle h...	OMIM:620458
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Oral-pharyngeal dysphagia, Facial diplegia, Hypoplasia of the corpus callosum, Dec...	ORPHA:254930
Hypoglossia With Situs Inversus	Low-set ears, Microglossia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypodontia, High ...	OMIM:612776
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Hearing impairment, Barrel-shaped chest, Limited elbow moveme...	OMIM:183900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Narrow chest, Cataract, Downturned corners of mouth, Long philtrum,...	ORPHA:163649
Feingold Syndrome Type 1	Interrupted aortic arch, Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventric...	ORPHA:391641
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Hearing impairment, Micrognathia, Increased intervertebral...	OMIM:224300
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Bifid uvula, Microretrognathia, Cleft mandible, Micrognathia, Narrow mouth, Acetabu...	OMIM:268305
Cousin Syndrome	Hydranencephaly, Disproportionate short stature, Microglossia, Rhizomelia, Hypoplastic scapulae, ...	OMIM:260660
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Long philtrum, Spina bifida, Mitral valve prolapse	OMIM:211960
Li-Campeau Syndrome	Long philtrum, Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, Atr...	OMIM:619189
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Micrognathia, Short neck, Abnormalit...	ORPHA:3409
Intellectual Developmental Disorder, X-Linked 112	Gastroesophageal reflux, Kyphosis, Volvulus, Abnormal heart morphology, Right aortic arch, Kyphos...	OMIM:301111
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Low-set ears, High-frequency sensorineural hearing impairment, Frontal bossing, Postnatal growth ...	ORPHA:2324
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Pate...	OMIM:601927
Desbuquois Dysplasia 1	Narrow mouth, Short neck, Round face, Advanced ossification of carpal bones, Flat acetabular roof...	OMIM:251450
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Postnatal growth retardation, 11 pairs of ribs, Bicoro...	OMIM:619184
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Pectus carinatum, Cataract, Microcornea, Retrognathia, Furrowed tongue, Tented uppe...	OMIM:616449
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Low-set ears, Long philtrum, Myopic astigmatism, Macrodontia, Genu valgum, Micrognathia, Narrow m...	OMIM:618443
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Microcornea, Abnormally prominent line of Schwalbe, Megalocornea, Ecto...	OMIM:180500
Craniofacial Microsomia 1	Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit...	OMIM:164210
Monosomy 18Q	Aortic valve stenosis, Secondary growth hormone deficiency, Diffuse white matter abnormalities, S...	ORPHA:1600
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Dental crowding, Persistent open anterior fontanelle, Pos...	OMIM:620601
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Chronic otitis media, Hearing impairment, Long philtrum, Frontal bossing,...	ORPHA:261250
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi...	OMIM:616652
Iniencephaly	Lissencephaly, Rhizomelia, Spinal dysraphism, Absent vertebra, Myelomeningocele, Encephalocele, S...	ORPHA:63259
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre...	ORPHA:63260
Crisponi/Cold-Induced Sweating Syndrome 1	Low-set ears, Carious teeth, Keratitis, Retrognathia, Long philtrum, Large face, Elbow flexion co...	OMIM:272430
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Secundum atrial septal defect, Cleft upper lip, Congenital lobar overinf...	OMIM:600987
Shashi-Pena Syndrome	Low-set ears, Cupped ear, Retrognathia, Intrauterine growth retardation, Cervical C2/C3 vertebral...	OMIM:617190
Cockayne Syndrome A	Cataract, Carious teeth, Dental malocclusion, Abnormal auditory evoked potentials, Intrauterine g...	OMIM:216400
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Postnatal growth retardation, Open mouth, Protruding tongue, Ventricular septal def...	OMIM:212066
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Abnormal sternum morphology, Tetralogy of...	OMIM:192350
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Cholestasis, Pancytopenia, Hypoplasia of the corpus callosum...	OMIM:614576
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi...	ORPHA:90652
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Vascular granular osmiophilic material deposition, Cerebellar atrophy, Cerebral atrophy, T2 hypoi...	ORPHA:1947
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part...	ORPHA:2847
Multiple Pterygium-Malignant Hyperthermia Syndrome	Narrow mouth, Plagiocephaly, Downturned corners of mouth, Abnormal mandible morphology, Prominenc...	ORPHA:2215
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Narrow mouth, Brachy...	ORPHA:1790
Restrictive Dermopathy	Low-set ears, Thin ribs, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylosis,...	ORPHA:1662
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Pectus carinatum, Long philtrum, Camptodactyly of finger, Frontal b...	ORPHA:77258
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Vertebral wedging, Hearing impairment, Biconcave vertebral bodies, Kyp...	OMIM:610968
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Bartsocas-Papas Syndrome 1	Axillary pterygium, Low-set ears, Hypoplasia of the maxilla, Popliteal pterygium, Cupped ear, Hyp...	OMIM:263650
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Lumbar hyperlordosis, Micrognat...	OMIM:114300
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Patent ...	OMIM:619717
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Narrow chest, Atrioventricular canal defect, Horizontal ribs, Aplasia of the epiglo...	OMIM:617088
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Prominent occiput, Submucous cleft hard palate, Supernumerary...	OMIM:619122
Coach Syndrome 2	Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent...	OMIM:619111
Holoprosencephaly 2	Bifid uvula, Iris coloboma, Proboscis, Median cleft palate, Malar flattening, Submucous cleft har...	OMIM:157170
Diamond-Blackfan Anemia 6	Bifid uvula, Ventricular hypertrophy, Cleft upper lip, Tetralogy of Fallot, Mitral valve prolapse...	OMIM:612561
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Protruding ear, Limited wrist extension, Recurrent patellar dislocation...	OMIM:108145
Charge Syndrome	Postnatal growth retardation, Lymphopenia, Ventricular septal defect, Overriding aorta, Atrial se...	OMIM:214800
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Plagiocephaly, Abnormal clavicle morphology, Hearing...	ORPHA:85199
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Abnormal facial shape, Hypoplasia of the maxilla, Mandibular prognathia, Long face	ORPHA:3044
Genitopalatocardiac Syndrome	Low-set ears, Downturned corners of mouth, Non-midline cleft of the upper lip, Intrauterine growt...	ORPHA:2075
Fryns Syndrome	Abnormal aortic arch morphology, Gastroesophageal reflux, Non-midline cleft of the upper lip, Lon...	ORPHA:2059
Holt-Oram Syndrome	Hypoplastic left heart, Kyphosis, Abnormal clavicle morphology, Atrioventricular canal defect, Ab...	ORPHA:392
Hajdu-Cheney Syndrome	Aortic valve stenosis, Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, ...	ORPHA:955
Triploidy	Intestinal malrotation, Intrauterine growth retardation, Narrow mouth, Hydrocephalus, Abnormal ca...	ORPHA:3376
Emanuel Syndrome	Aortic valve stenosis, Chiari malformation, Agenesis of corpus callosum, Ventricular septal defec...	ORPHA:96170
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Micrognathia, Gingival overgrowth, Limbal dermoid, Vertebr...	ORPHA:1834
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Low-set ears, Bell-shaped thorax, Short neck, Dolichocephaly, High palate, Scoliosis, Kyphosis	ORPHA:178148
Aneurysm-Osteoarthritis Syndrome	Intervertebral disk degeneration, Knee osteoarthritis, High palate, Long face, Protrusio acetabul...	ORPHA:284984
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co...	OMIM:618193
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb, Decreased thalamic volume	OMIM:618646
Gorlin Syndrome	Abnormal vertebral morphology, Iris coloboma, Cataract, Carious teeth, Vertebral wedging, Abnorma...	ORPHA:377
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Basal Ganglia Calcification, Idiopathic, 5	Cerebellar calcifications, Basal ganglia calcification, Cerebral calcification, Thalamic calcific...	OMIM:615483
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Lymphopenia, Leukopenia, Splenomegaly, Hypoplasia of the corpus cal...	OMIM:620210
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Thick lower lip vermilion, Abnormal pinna morphology, Coarse facial featur...	OMIM:300354
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Growth delay, Abnormal facial shape, Everted lower lip vermilion, Sco...	OMIM:617768
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Acitretin/Etretinate Embryopathy	Cupped ear, Atrioventricular canal defect, Micrognathia, Conotruncal defect, Median cleft palate,...	ORPHA:40366
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Hearing impairment, Long philtrum, Um...	OMIM:614856
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis, Hearing impairment	OMIM:617087
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Chromosome 22Q11.2 Deletion Syndrome, Distal	Intrauterine growth retardation, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, S...	OMIM:611867
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Cerebellar vermis hypoplasia, Polymicrogyria, Hamartoma of tongue, 11 pai...	OMIM:277170
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect	DECIPHER:39
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Elbow flexion contracture, Micrognathia, Down-sloping s...	OMIM:616200
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Cerebellar dentate nucleus calcification, Dysphagia, Thalamic calcif...	OMIM:618317
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Severe short stature, Hip contracture, Knee flexion contracture,...	OMIM:313420
Progressive Non-Infectious Anterior Vertebral Fusion	Flat face, Kyphosis, Abnormality of the vertebral column, Micrognathia, Wide mouth, Brachycephaly...	ORPHA:2062
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Gastroesophageal reflux, Alobar holoprosencephaly, Semilobar holoprosence...	OMIM:301043
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Pectus carinatum, Narrow mouth, Kyphosis	OMIM:620007
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia, Patent ductus arteriosus, Pyloric stenosis	ORPHA:1571
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Aortic valve stenosis, Cerebral cortical atrophy, Cerebral atrophy, Cere...	ORPHA:2396
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Plagiocephaly, Retrognathia, Trigonocephaly, Micrognathia, Decreased calvarial ossific...	OMIM:618265
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Cataract, Cleft lip, Dental malocclusion, Atresia of the external auditory canal, ...	OMIM:603457
Nance-Horan Syndrome	Abnormality of the dentition, Microcornea, Cataract, Protruding ear, Supernumerary tooth, Mandibu...	ORPHA:627
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Narrow mouth...	OMIM:611209
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Agenesis of corpus callosum, Ventricular septal defect, Hepatob...	OMIM:312870
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Pectus excavatum, Kyphosis	OMIM:609384
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Cerebellar calcifications, Basal ganglia calcification, Thalamic calcification	OMIM:618824
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Low-set ears, Iris coloboma, Retrognathia, Long philtrum, Cleft upper lip,...	OMIM:243310
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Tetrasomy 9P	Hypoplastic scapulae, Abnormal earlobe morphology, Micrognathia, Glue ear, Abnormal mitral valve ...	ORPHA:3310
Fibrochondrogenesis 1	Low-set ears, Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Megalocornea, Narro...	OMIM:228520
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Micro Syndrome	Cataract, Microcornea, Low-set, posteriorly rotated ears, Intrauterine growth retardation, Microg...	ORPHA:2510
Rere-Related Neurodevelopmental Syndrome	Iris coloboma, Peters anomaly, Hearing impairment, Frontal bossing, Abnormal heart morphology, Lo...	ORPHA:494344
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Microcephaly, Abnormal rib morphology	ORPHA:2435
Fetal Minoxidil Syndrome	Ventricular septal defect, Umbilical hernia	ORPHA:1918
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Trisomy 20P	Micrognathia, Abnormal antihelix morphology, Short neck, Round face, Everted lower lip vermilion,...	ORPHA:261318
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Gastroesophageal reflux, Cerebellar atrophy, Umbilical hernia, Cavum septum pellucidum, Patent fo...	ORPHA:329224
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis	OMIM:614262
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Abnormal palate morphology, Protruding ear, Facial a...	ORPHA:3068
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Intrauterine growth retardation, Ventricular septal defect, Hypodontia, Double outlet...	OMIM:301056
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,...	OMIM:156530
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Postnatal growth retardation, Micrognathia, Cleft soft palate, Bell-...	OMIM:117650
Xk Aprosencephaly Syndrome	Anal atresia, Narrow mouth, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Postnatal growth retardation, Protruding tongue, Ventricular septal defect, Absent ...	OMIM:301040
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Lumbar hyperlordosis, Sensorineural hearing impairment, Short stature, Scoliosis...	OMIM:616756
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Aplastic anemia, Abnormal lung lobation, Intrauterine growth retar...	OMIM:300514
Congenital Rubella Syndrome	Intrauterine growth retardation, Splenomegaly, Abnormality of the pulmonary artery, Ventricular s...	ORPHA:290
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract, Scoliosis, Cardiomyopathy	OMIM:201470
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Warburg Micro Syndrome 3	Cataract, Microcornea, Downturned corners of mouth, Postnatal growth retardation, Micrognathia, A...	OMIM:614222
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Low-set ears, Abnormality of the dentition, Long philtrum, Ventricular septal defect, Smooth phil...	ORPHA:261190
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Joubert Syndrome 36	Pectus carinatum, Molar tooth sign on MRI	OMIM:618763
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Micrognathia, Abnormal pinna morphology, Spina bifid...	OMIM:618291
Lambert Syndrome	Cholestasis, Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect, Intra...	ORPHA:1296
Joubert Syndrome 3	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Elongated superior cerebellar peduncl...	OMIM:608629
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, V...	ORPHA:210122
Chromosome 10Q26 Deletion Syndrome	Low-set ears, Postnatal growth retardation, Micrognathia, Sensorineural hearing impairment, Short...	OMIM:609625
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Sensory axonal neuropathy, Acute hepatic failure, Focal T2 hyperintense thalamic l...	ORPHA:254881
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Joubert Syndrome 9	Hepatic fibrosis, Scoliosis, Encephalocele, Molar tooth sign on MRI	OMIM:612285
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Narrow chest, Hypertrophic cardiomyopathy, Bell-shaped thorax, Short ribs, Patent duc...	ORPHA:1842
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Agenesis of corp...	OMIM:300887
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Pectus carinatum, Dolichocephaly, Scoliosis, Kyphosis	ORPHA:1548
Bethlem Myopathy 2	Kyphosis, Scoliosis, Hip dislocation, Scapular winging	OMIM:616471
Alazami Syndrome	Low-set ears, Widely spaced teeth, Postnatal growth retardation, Malar flattening, Triangular fac...	ORPHA:319671
Monosomy 9Q22.3	Low-set ears, Cataract, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Abnormality o...	ORPHA:77301
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Long philtrum, Abnormal hea...	OMIM:618494
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Intrauterine growth retardation, Bicuspid aortic valve, Atrial septal defect, Short stature, Recu...	OMIM:617744
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Typical Nemaline Myopathy	Narrow face, Narrow chest, Kyphosis, Genu valgum, Micrognathia, Short neck, Hyperlordosis, Genu v...	ORPHA:171436
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Narrow chest, Microretrognathia, Conductive hearing impairment, Hearing impairment...	OMIM:616229
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Hypoplasia of the maxilla, Carious teeth, Shal...	OMIM:182250
Fountain Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Thick lower lip vermilion, Wide...	ORPHA:3219
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Tetrasomy 15Q26	Intrauterine growth retardation, Hypoplastic aortic arch, Hydrocephalus, Atrial septal defect, Hi...	OMIM:614846
Short Stature, Dauber-Argente Type	Short stature, Postnatal growth retardation, Triangular face, Delayed eruption of teeth	OMIM:619489
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, Long philtrum, Intraut...	OMIM:612863
Developmental And Epileptic Encephalopathy 102	Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect	OMIM:619881
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Anterior encephalocele, Ventricular septal defect, Bilateral clef...	OMIM:601357
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis	OMIM:615451
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Ventricular septal defect, Sensorineural heari...	ORPHA:353281
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Carious teeth, Growth delay, Delayed cranial suture closure, Postnatal growth retardat...	ORPHA:93324
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis	OMIM:615872
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Biventricular hypertrophy, Median pseudocleft lip, Recurrent ot...	OMIM:616462
Achondrogenesis, Type Ii	Microretrognathia, Disproportionate short-limb short stature, Long philtrum, Absent vertebral bod...	OMIM:200610
8Q12 Microduplication Syndrome	Gastroesophageal reflux, Long philtrum, Narrow mouth, Ventricular septal defect, Atrial septal de...	ORPHA:228399
Fibrous Dysplasia Of Bone	Abnormal facial skeleton morphology, Abnormal clavicle morphology, Hearing impairment, Abnormal m...	ORPHA:249
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Recurrent otitis media, Postnatal growth retardation, Intrauterine growth retardatio...	ORPHA:96184
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Prominent crus of helix, Genu valgum, Hip contracture, Sensorineural hearing impair...	OMIM:619194
8P23.1 Duplication Syndrome	Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion border, Pulmonic s...	ORPHA:251076
Tyshchenko Syndrome	High, narrow palate, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosi...	OMIM:615102
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra...	OMIM:619472
3Q27.3 Microdeletion Syndrome	Low-set ears, Dental crowding, Narrow mouth, Kyphoscoliosis, Thin upper lip vermilion, Short phil...	ORPHA:397695
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Postnatal growth retardation, Micrognathia, Open mouth, Everted lower lip vermilion...	OMIM:156200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Scoliosis, Hip dislocation	OMIM:300434
Even-Plus Syndrome	Severe short stature, Patent foramen ovale, Agenesis of corpus callosum, Dysplastic corpus callos...	OMIM:616854
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Postnatal growth retardation, Micrognathia, Subglott...	OMIM:620305
Cat Eye Syndrome	Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul...	OMIM:115470
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the vertebral column, Hydrocephalus, Broad skull	ORPHA:228123
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Secundum atrial septal defect, Everted upper lip vermilion, Hearing impairment, Cam...	OMIM:619951
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven...	ORPHA:99125
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Postnatal growth ...	OMIM:253220
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Mitral valve prolap...	ORPHA:309155
Lethal Congenital Contracture Syndrome 10	Low-set ears, Narrow palate, Narrow chest, Long philtrum, Broad ribs, Intrauterine growth retarda...	OMIM:617022
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Pulmonary hypoplasia, Narrow chest, Hamartoma of tongue, Bell-shaped thorax, Encephal...	OMIM:616300
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Sprengel anomaly, Iris coloboma, Cataract, Vertebral wedging, Parietal bossi...	OMIM:109400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Atrial septal defect, Hypoplasia of the maxilla, Downturned cor...	ORPHA:500150
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Hepatic fibrosis, Hepatic failure, Thoracic hypoplasia, Thoracic dy...	OMIM:615630
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Pectus carinatum, Hypoplasia of the maxilla, Anterior wedging of T12, Kyphosis, Hy...	OMIM:300106
Oculoauriculofrontonasal Syndrome	Cleft lip, Narrow mouth, Encephalocele, Ventricular septal defect, Broad philtrum, Cleft palate	ORPHA:398156
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Kyphosis	OMIM:618453
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Verheij Syndrome	Branchial cyst, Cerebral atrophy, Intrauterine growth retardation, Truncus arteriosus, Ventricula...	OMIM:615583
Fadd-Related Immunodeficiency	Hepatic fibrosis, Cerebral atrophy, Decreased liver function, Ventricular septal defect, Pulmonar...	ORPHA:306550
Hurler-Scheie Syndrome	Growth delay, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interphalangea...	OMIM:607015
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Cataract, Disproportionate short-limb short stature, Low-set, posteriorly...	ORPHA:2772
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Cataract, Narrow chest, Posterior wedging of vertebral bodies, Growth delay, Aplas...	ORPHA:168549
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Kyphoscoliosis, Cardiomegaly, Sm...	ORPHA:324410
Sialidosis Type 2	Pectus carinatum, Hearing impairment, Umbilical hernia, Coarse facial features, Corneal opacity, ...	ORPHA:87876
Silver-Russell Syndrome 3	Low-set ears, Retrognathia, Frontal bossing, Postnatal growth retardation, Antecubital pterygium,...	OMIM:616489
Localized Scleroderma	Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Abnormal ...	ORPHA:90289
Williams Syndrome	Synostosis of joints, Carious teeth, Megalocornea, Open bite, Micrognathia, Genu valgum, Mitral v...	ORPHA:904
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomyopathy, Left ventricular hypert...	ORPHA:444013
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Joubert Syndrome 7	Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc...	OMIM:611560
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Mitral valve prolapse, High pa...	ORPHA:536532
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Cdkl5-Deficiency Disorder	Growth delay, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis, Kyph...	ORPHA:505652
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Reduced cerebral white matter volume, Cerebral atrophy, Umb...	OMIM:280000
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Atrioventricular canal defect, Micrognathia, Ventricular septal defect, Protruding ear...	OMIM:619123
Hypomelanosis Of Ito	Iris coloboma, Cataract, Thick lower lip vermilion, Coarse facial features, Irregularly spaced te...	OMIM:300337
Orofaciodigital Syndrome Xiv	Low-set ears, Microretrognathia, Natal tooth, Cleft lip, Occipital encephalocele, Hamartoma of to...	OMIM:615948
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ...	ORPHA:1457
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Intrauterine growth retardati...	OMIM:606003
Rhombencephalosynapsis	Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Abnormal dentate nucl...	ORPHA:59315
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia	OMIM:613095
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Gastroesophageal reflux, Secundum atrial septal defect, Hypoplasia ...	OMIM:619909
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Long philtrum, Postnatal growth retardation, Short neck, Brachy...	OMIM:614800
Ogden Syndrome	High, narrow palate, Low-set ears, Microretrognathia, Everted upper lip vermilion, Delayed crania...	ORPHA:276432
Distal Deletion 3P	Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Hearing impairment	ORPHA:1620
Japanese Encephalitis	Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal thalamus morpho...	ORPHA:79139
Mucopolysaccharidosis, Type Ii	Severe short stature, Delayed eruption of teeth, Hearing impairment, Thick lower lip vermilion, A...	OMIM:309900
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Micrognathia, Narrow mouth, Missing ribs, Orofacial cleft, Abnormal rib mo...	ORPHA:3301
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Chiari malformation, Decreased response to growth hormone stimulatio...	OMIM:609053
Autosomal Recessive Robinow Syndrome	Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Open bite, Ankyloglossia, Micr...	ORPHA:1507
Hamel Cerebro-Palato-Cardiac Syndrome	Short stature, Narrow mouth, Atrial septal defect, Cleft palate	ORPHA:93946
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Narrow mouth, Sensorineural hearing impairment, Bird-like facies, ...	OMIM:615381
Atelis Syndrome 2	Low-set ears, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Sacral dimple, Mi...	OMIM:620185
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Cerebellar atrophy, Polymicrogyria, Situs inversus totalis, Agenesis of corpus callosu...	OMIM:614833
Roifman Syndrome	Recurrent pneumonia, Biconvex vertebral bodies, Postnatal growth retardation, Intrauterine growth...	OMIM:616651
Fraser Syndrome 1	Low-set ears, Dental malocclusion, Dental crowding, Cleft upper lip, Atresia of the external audi...	OMIM:219000
Leukoencephalopathy With Dystonia And Motor Neuropathy	Leukoencephalopathy, Focal T2 hyperintense thalamic lesion, Decreased motor nerve conduction velo...	OMIM:613724
Primrose Syndrome	Hearing impairment, Genu valgum, Narrow mouth, Hip contracture, Torus palatinus, High palate, Mac...	OMIM:259050
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Prot...	OMIM:612938
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect	OMIM:614876
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, S...	OMIM:617660
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Biconcave flattened vertebrae, Wormi...	OMIM:166220
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Gastroesophageal reflux, Basal ganglia necrosis, Lateral ventricl...	ORPHA:79243
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Abnormality of the dentition, Growth del...	ORPHA:1596
Temple-Baraitser Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Atrial septal defect, Thick ...	OMIM:611816
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Platyspondyly, Broad clavicles, Long philtrum, Irregular acetabular roof, ...	OMIM:619698
Gracile Bone Dysplasia	Thin ribs, Ankyloglossia, Hydrocephalus, Short stature, Asplenia, Hypoplastic spleen	OMIM:602361
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Downturned corners of mouth, Intrauterine growth retardation, Thin upper lip vermilion, Atrial se...	ORPHA:521308
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr...	ORPHA:1532
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Low-set ears, Joint contracture of the hand, Retrognathia, Long philtrum, He...	OMIM:612513
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia...	ORPHA:300573
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hearing impairment, Pursed lips, Postnatal growth retardation, Nar...	OMIM:193700
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Hearing impairment, Micrognathia, High palate, Long face, Popliteal pterygium, Vert...	ORPHA:2990
Campomelic Dysplasia	Low-set ears, Small abnormally formed scapulae, Hip dislocation, Narrow chest, Flat face, Hearing...	ORPHA:140
Meckel Syndrome 13	Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
White Forelock With Malformations	Spina bifida occulta, Deep philtrum, Atrial septal defect, Abnormal palate morphology	ORPHA:2475
Osteogenesis Imperfecta, Type X	Platyspondyly, Dentinogenesis imperfecta, Thin ribs, Narrow chest, Rhizomelia, Thoracic hypoplasi...	OMIM:613848
Enlarged Parietal Foramina	Cleft lip, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein...	ORPHA:60015
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Short philtrum, Cleft palate	ORPHA:94066
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Cockayne Syndrome	Lentiglobus, Carious teeth, Postnatal growth retardation, Delayed eruption of primary teeth, Corn...	ORPHA:191
Pagod Syndrome	Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Abnormal clavicle morphology,...	ORPHA:991
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Atrial septal defect, Thick vermilion border, Short stature, Pulmoni...	OMIM:618499
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Ventricular septal defect, Cerebellar hypoplasia, Pulmonary arte...	ORPHA:75389
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the zygomatic bone, Tooth agenesis, Umbilical h...	ORPHA:1555
Down Syndrome	Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Protruding tongue, Complet...	OMIM:190685
Sanjad-Sakati Syndrome	Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Low-set, posterio...	ORPHA:2323
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Carious teeth, Growth delay, Retrognathia, Postnatal growth retardation, Intrauteri...	OMIM:613026
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa...	ORPHA:363705
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Severe short stature, Carious teeth, Thickened calvaria, Mixed hearing impairment,...	OMIM:126550
Zechi-Ceide Syndrome	Cleft lip, Downturned corners of mouth, Abnormal heart morphology, Oligodontia, Atrial septal def...	ORPHA:217017
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Focal T2 hyperintense thalamic lesion, Splenomegaly, Cardiomyopathy	OMIM:619046
Coffin-Siris Syndrome 5	Thick lower lip vermilion, Intrauterine growth retardation, Thin upper lip vermilion, Atrial sept...	OMIM:616938
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Abnormality of the dentition, Pectus carinatum, Vertebr...	OMIM:259450
Criss-Cross Heart	Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal...	ORPHA:1461
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Hyperlordosis, Scoliosis, K...	OMIM:600175
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Hearing impairment, Genu valgu...	OMIM:143095
Hydranencephaly	Atrophic pituitary gland, Cerebral cortical atrophy, Abnormal corpus striatum morphology, Dysgene...	ORPHA:2177
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short stature, Growth delay, Atrial septal defect	ORPHA:52056
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Intervertebral disk degeneration, Mitral valve prolapse, Knee osteoarthr...	OMIM:613795
Cog1-Cdg	Postnatal growth retardation, Micrognathia, Narrow mouth, Short neck, High palate, Flat acetabula...	ORPHA:263508
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Kyphosis, Hearing impairment	OMIM:618237
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Beta-Mercaptolactate Cysteine Disulfiduria	Short stature, High palate, Atrial septal defect, Umbilical hernia	ORPHA:1035
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ...	ORPHA:93941
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Narrow chest, Ectopia lentis, Retrognathia, Intrauterine growth retardation,...	OMIM:616914
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Molar tooth sign on MRI, Lobulated tongue	OMIM:617127
Schuurs-Hoeijmakers Syndrome	Volvulus, Downturned corners of mouth, Diastema, Patent foramen ovale, Thin upper lip vermilion, ...	OMIM:615009
Congenital Myopathy 22A, Classic	Dental crowding, Frontal bossing, Scaphocephaly, Micrognathia, Knee contracture, Open mouth, Hip ...	OMIM:620351
Sialidosis Type 1	Pectus carinatum, Cataract, Abnormal form of the vertebral bodies, Thick lower lip vermilion, Fro...	ORPHA:812
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati...	OMIM:277300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Knee flexion contracture, Hip contracture, Hyperlordosis, Scapular winging, Pectus excavatum, Sco...	OMIM:615290
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Intrauterine growth retardation, Hypoplasia of the corpus callosum, Ventricular septal defect, Ag...	OMIM:618142
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Megalocornea, Micrognathia, Atrial septal defe...	ORPHA:280
Mmep Syndrome	Median cleft upper lip, Orofacial cleft, Ventricular septal defect	ORPHA:3434
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Ventricular septal defect, Short neck, Atrial septal defect, Dysplastic ao...	OMIM:601808
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Agangli...	ORPHA:220497
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Hypoplasia of t...	OMIM:615996
Chromosome 3Q13.31 Deletion Syndrome	Low-set ears, Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, Short philtrum, Kyphosis...	OMIM:615433
4Q21 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Growth delay, Downturned corners of mouth, Hearing im...	ORPHA:238750
Cardiofaciocutaneous Syndrome	Genu valgum, Short neck, Atrial septal defect, High palate, Biparietal narrowing, Long face, Macr...	ORPHA:1340
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Delayed p...	OMIM:619718
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Cleft lip, Micrognathia, Kyphoscoliosis, Ventricular septal defect, Cubit...	OMIM:618348
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Postnatal growth retardation, Mi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Postnatal growth retardation, Mi...	ORPHA:353277
Chromosome 6Pter-P24 Deletion Syndrome	Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Agenesis of corpus callosum, Ventric...	OMIM:612582
Burn-Mckeown Syndrome	Bifid uvula, Cleft upper lip, Narrow mouth, Thin vermilion border, Ventricular septal defect, Atr...	OMIM:608572
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypopla...	ORPHA:699
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:615504
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Supravalvar pulmonary stenosis, Umbilical hernia, ...	OMIM:618164
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,...	OMIM:613717
22Q11.2 Deletion Syndrome	Ventricular septal defect, Short neck, Atrial septal defect, Anal atresia, Patent ductus arterios...	ORPHA:567
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad ribs, Thin calvarium, Micrognathia, Malar flattening, Wormian bones, Parietal bossing, Obtu...	ORPHA:85184
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Low-set ears, Thin ribs, Hypoplasia of the odontoid process, Malar flattening, Kyp...	OMIM:300232
Nevus Comedonicus Syndrome	Abnormal vertebral morphology, Microcephaly, Spina bifida, Spina bifida occulta, Scoliosis	ORPHA:64754
Congenital Syphilis	Cataract, Keratitis, Hearing impairment, Hyperplasia of the maxilla, Intrauterine growth retardat...	ORPHA:499009
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Microretrognathia, Plagiocephaly, Hypoplasia of the zygomatic bone, Frontal bossing...	OMIM:613603
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Sensorineural hearing impairment, Short neck, Deep philtrum, Coarse facial f...	OMIM:616455
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri...	OMIM:620135
Gm1 Gangliosidosis	Platyspondyly, Low-set ears, Abnormal form of the vertebral bodies, Cardiomyopathy, Camptodactyly...	ORPHA:354
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Mandibular prognathia, Pectus carinatum, Dental crowding, Thick...	OMIM:309583
2Q31.1 Microdeletion Syndrome	Low-set ears, Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Everted ...	ORPHA:251014
Intellectual Developmental Disorder, Autosomal Recessive 78	Narrow chest, Microretrognathia, Retrognathia, Kyphoscoliosis, Sensorineural hearing impairment, ...	OMIM:620237
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
2P15P16.1 Microdeletion Syndrome	Low-set ears, Growth delay, Retrognathia, Long philtrum, Camptodactyly of finger, Hearing impairm...	ORPHA:261349
Leopard Syndrome 1	Low-set ears, Mitral valve prolapse, Limited elbow movement, Sensorineural hearing impairment, Sh...	OMIM:151100
Atelis Syndrome 1	Carious teeth, Long philtrum, Ventricular septal defect, Atrial septal defect, High palate, Bronc...	OMIM:620184
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morpholo...	ORPHA:68
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:615505
Orofaciodigital Syndrome Type 14	Microretrognathia, Lobulated tongue, Hamartoma of tongue, Low-set, posteriorly rotated ears, Trig...	ORPHA:434179
Fg Syndrome Type 1	Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Optic nerve ...	ORPHA:93932
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Intrauterine growth retardation, Cerebral calcification, Splenomegaly, Ab...	ORPHA:3035
Abruzzo-Erickson Syndrome	Short stature, Abnormal palate morphology, Atrial septal defect, Cleft palate	ORPHA:921
Microphthalmia With Limb Anomalies	Low-set ears, Capitate-hamate fusion, Growth delay, Camptodactyly of 2nd-5th fingers, Retrognathi...	OMIM:206920
Gm1-Gangliosidosis, Type I	Severe short stature, Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiom...	OMIM:230500
Kenny-Caffey Syndrome, Type 1	Thin ribs, Carious teeth, Intrauterine growth retardation, Proportionate short stature, Birth len...	OMIM:244460
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Holoprosencephaly 14	Alobar holoprosencephaly, Cleft lip, Ventricular septal defect, Median cleft upper lip, Double ou...	OMIM:619895
Methimazole Embryofetopathy	Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati...	ORPHA:1923
Mucopolysaccharidosis, Type Vi	Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Disproportion...	OMIM:253200
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology, Abnormal brainstem morphology, Abnormal putamen morphology, Cerebra...	ORPHA:88619
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Spinal dysraphism, Kyphosis, Genu valgum, Large joint dislocations, M...	OMIM:603546
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Butterfly vertebrae, Absent septum pellucidum, Patent foramen ovale, Ventricular septal defect, A...	OMIM:618870
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Coarse facial features, Short stature, Anterior beaking of...	OMIM:230650
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Thin ribs, Micrognathia, Hip contracture, Short neck, High palate, Long face, Spina...	OMIM:620369
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia ...	ORPHA:2759
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Neonatal short-limb short stature, Natal tooth, Delayed eruption ...	OMIM:225500
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Dental malocclusion, Hearing impairment, Facial asymmetry, S...	ORPHA:562
Saul-Wilson Syndrome	Platyspondyly, Pectus carinatum, Cataract, Hypoplasia of the odontoid process, Hearing impairment...	OMIM:618150
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Low-set, posteriorly rotated ears, Genu valgum, Short neck, Short th...	ORPHA:2983
Al-Gazali-Bakalinova Syndrome	Pectus carinatum, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Short neck, Mol...	OMIM:607131
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Abnormal cerebellum morphology, Molar tooth sign on MRI, Polymicrogyria	OMIM:617757
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Hearing impairment, Postnatal growth retardation, Short neck, Prominent coccyx, Thi...	OMIM:300966
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Agenesis of corpus callosum, Ventricular septal ...	ORPHA:77298
15Q24 Microdeletion Syndrome	Abnormality of the dentition, Hearing impairment, Long philtrum, Thick lower lip vermilion, Abnor...	ORPHA:94065
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Abnormal cortical gyration, Patent foramen ovale, Peripheral axonal neuropathy, Axonal loss, Dysp...	OMIM:616867
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Malar flattening, Sensorineural hearing impairment, Long face, High palate, Pectus ...	OMIM:609944
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Ventricular septal...	OMIM:309500
Poland Syndrome	Asymmetry of the thorax, Pectus carinatum, Abnormal rib morphology, Aplasia/Hypoplasia of the ste...	ORPHA:2911
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Conical tooth, Cupped ear, Supernumerary vertebrae, Cle...	OMIM:263750
Zimmermann-Laband Syndrome 3	Bifid uvula, Thick lower lip vermilion, Gingival overgrowth, Coarse facial features, High palate,...	OMIM:618658
Neuroferritinopathy	Eye of the tiger anomaly of globus pallidus, Abnormal basal ganglia morphology, Abnormal caudate ...	ORPHA:157846
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Carious teeth, Hearing impairment, Selective tooth agenesis, Cleft upp...	OMIM:604292
Diaphanospondylodysostosis	Enlarged thorax, Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, S...	ORPHA:66637
Suleiman-El-Hattab Syndrome	Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Recurrent respiratory infe...	OMIM:618950
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I malformation, Ventr...	OMIM:218350
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Congenital Myopathy 11	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale	OMIM:619967
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis, Hearing impairment	ORPHA:101075
De Barsy Syndrome	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Prominent veins on trunk, Umbi...	ORPHA:2962
Mucolipidosis Iii Gamma	Aortic valve stenosis, Pectus carinatum, Genu valgum, Claw hand deformity, Short neck, Coarse fac...	OMIM:252605
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Hyperlordosis, Scapular wingin...	ORPHA:73223
Li-Ghorbani-Weisz-Hubshman Syndrome	Downturned corners of mouth, Ventricular septal defect, Atrial septal defect, Thick vermilion bor...	OMIM:618974
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def...	ORPHA:101028
Noonan Syndrome 8	Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal de...	OMIM:615355
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Abnormality of the dentition, Umbilical hernia, Micrognathia, Biconcave vertebral bodi...	OMIM:617952
Pseudo-Torch Syndrome 2	Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect...	OMIM:617397
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Abnormal heart morphology, Hypoplasia of the corpus callosum, Agenesis of corpu...	OMIM:175700
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Cerebellar atrophy, Growth delay, Secondary microcephaly, Decreased nerve conducti...	ORPHA:485421
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Abnormal palate morphology, A...	ORPHA:1506
Hurler Syndrome	Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ...	ORPHA:93473
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hearing impairment, Widely spaced teeth, Recurrent otitis media, Postnatal growth retardation, In...	ORPHA:2728
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Delayed cranial suture ...	OMIM:603116
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot...	OMIM:618652
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Abnormality of the dentition, Rhizomelia, Posterior subcapsular cataract, Dispropo...	OMIM:271510
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Umbilical hernia, Splenomegaly, Thickened ribs, Ovo...	OMIM:252900
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Narrow mouth, Everted lower lip vermilion, High palate, Long face, Pectus carinatum...	ORPHA:3063
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Hypoplasia of the corpus callosum, Hepatomega...	OMIM:619185
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Low-set ears, Pectus carinatum, Microcornea, Retrognathia, Furrowed tongue, ...	ORPHA:464738
Joubert Syndrome 30	Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Molar tooth sign on MRI, Superio...	OMIM:617622
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Low-set ears, Retrognathia, Postnatal growth retardation, Intrauterine growth retardation, Patent...	OMIM:620113
Kagami-Ogata Syndrome	Thoracic hypoplasia, Pursed lips, Frontal bossing, Postnatal growth retardation, Large placenta, ...	ORPHA:254519
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Hepatic fibrosis, Dysgenesis of the cerebellar vermis, Optic disc c...	OMIM:213300
Osteopetrosis, Autosomal Recessive 3	Short stature, Dental malocclusion, Cranial hyperostosis	OMIM:259730
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Micrognathia...	ORPHA:536467
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Cerebellar vermis hypoplasia, Optic atrophy, Pectus carinatum, Recurrent respiratory infections, ...	OMIM:619383
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:615481
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Recurrent otitis media, Short neck, Atrial septal defect, Dislocated...	OMIM:136140
Ring Chromosome 13 Syndrome	Growth delay, Agenesis of corpus callosum, Microcephaly, Short neck, Anal atresia, Hypoplasia of ...	ORPHA:96176
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel morphology, ...	ORPHA:1812
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Cerebellar vermis hypoplasia, Hepatic fibrosis, Microglossia, Pectus carinatum, La...	OMIM:263520
Frontoocular Syndrome	Narrow mouth, Narrow philtrum, Atrial septal defect, High palate, Pulmonic stenosis	OMIM:605321
Chondrodysplasia Punctata 2, X-Linked Dominant	Flat face, Rhizomelia, Cataract, Hearing impairment, Frontal bossing, Postnatal growth retardatio...	OMIM:302960
New-Onset Refractory Status Epilepticus	Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Abnormal basa...	ORPHA:363558
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p...	OMIM:212093
Loeys-Dietz Syndrome 5	Cleft soft palate, Ventricular septal defect, Atrial septal defect, High palate, Long face, Pectu...	OMIM:615582
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate	OMIM:600776
Stormorken Syndrome	Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Anemia, Thrombocytopenia, Shor...	OMIM:185070
Focal Dermal Hypoplasia	Low-set ears, Midclavicular aplasia, Iris coloboma, Myelomeningocele, Aniridia, Oligodontia, Hypo...	OMIM:305600
Autosomal Recessive Spastic Paraplegia Type 53	Pectus carinatum, Kyphosis, Hearing impairment	ORPHA:319199
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent foramen ovale, Ventricular septal defect, Proportionate short stature, Atrial septal defec...	OMIM:617044
Rauch-Steindl Syndrome	Long philtrum, Prominent crus of helix, Postnatal growth retardation, Intrauterine growth retarda...	OMIM:619695
Jacobsen Syndrome	Aortic valve stenosis, Agenesis of corpus callosum, Ventricular septal defect, Short neck, Duoden...	ORPHA:2308
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Cerebral atrophy, Bell-shaped thorax, Horizontal ribs, Coarctation of ao...	OMIM:614857
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Coarctation of aorta, Right aortic arch, Supraumbilical raphe	OMIM:140850
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow mouth, Ventricular septal defect, Atrial septal defect, Pulmonary lymphangiectasia, Rectal...	OMIM:235510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic hemivertebrae, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricul...	ORPHA:508498
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do...	ORPHA:371428
Filippi Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Serrated incisors, Abnormal dental...	OMIM:272440
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Dilated ...	ORPHA:261183
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Elbow flexion contracture, Genu valgum, Astigmatism, Hip contracture, Coar...	OMIM:618493
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventricular canal ...	OMIM:619608
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recur...	OMIM:150230
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Platyspondyly, Disproportionate short-limb short stature, Thoracic hypoplasia, Long philtrum, Thi...	OMIM:611717
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal brainstem ...	ORPHA:255182
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Snijders Blok-Campeau Syndrome	Umbilical hernia, Widely spaced teeth, Taurodontia, Perimembranous ventricular septal defect, Ena...	OMIM:618205
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Downturned corners of mouth, Recurrent respiratory infectio...	ORPHA:163956
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In...	ORPHA:449400
Spondyloperipheral Dysplasia	Platyspondyly, Pectus carinatum, Rhizomelic arm shortening, Acetabular spurs, Limited elbow exten...	OMIM:271700
Jeune Syndrome	Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal sternum morphology,...	ORPHA:474
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar...	OMIM:613834
Thanatophoric Dysplasia Type 1	Platyspondyly, Narrow chest, Kyphosis, Lethal short-limbed short stature, Abnormal sacroiliac joi...	ORPHA:1860
Fibrochondrogenesis	Low-set ears, Hypoplastic scapulae, Narrow chest, Plagiocephaly, Abnormal form of the vertebral b...	ORPHA:2021
Fraser Syndrome	Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical hernia, Myelomeningocele, Atresi...	ORPHA:2052
Silver-Russell Syndrome	Low-set ears, Dental crowding, Downturned corners of mouth, Delayed cranial suture closure, Low-s...	ORPHA:813
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Gastroesophageal reflux, Carious teeth, Downturned corners of mouth, Multiple muscular ventricula...	OMIM:620070
Buratti-Harel Syndrome	Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Velo...	OMIM:619314
Masa Syndrome	Short stature, Kyphosis, Hyperlordosis	OMIM:303350
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Pectus carinatum, Hypoplasia of the pons, Hepatosplenomegaly, Kyphoscoliosis, Aplasia/Hypoplasia ...	ORPHA:397709
Spondylocostal Dysostosis 5	Severe short stature, Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short n...	OMIM:122600
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Hypoplastic scapulae, Sensorineural hearing impairment, Orofacial cleft, Short stature,...	ORPHA:79107
Mucopolysaccharidosis-Plus Syndrome	Cerebral calcification, Short neck, Atrial septal defect, Neutropenia, Hepatomegaly, Macrovesicul...	OMIM:617303
Koolen-De Vries Syndrome	Open mouth, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Everted lower...	OMIM:610443
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Absent cupid's bow, Ventricular septal defect...	ORPHA:284169
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypoplasia of the corpus callosum, Ventricular septal defect, Bicuspid aortic valve, Atrial septa...	ORPHA:453499
Noonan Syndrome 14	High, narrow palate, Low-set ears, Pectus carinatum, Long philtrum, Hypertrophic cardiomyopathy, ...	OMIM:619745
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Com...	ORPHA:476126
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Bifid uvula, Peripheral pulmonary artery stenosis, Pectus carinatum, Aortic root aneurysm, Hypert...	OMIM:617506
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Situs inversus t...	ORPHA:990
Bcard Syndrome	Platyspondyly, Abnormality of the dentition, Low-set ears, Flat face, Cataract, Contracture of th...	OMIM:612394
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, Postnatal growth retardation, Ventricular septal defect, Short st...	ORPHA:3369
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Internally rotated shoulders, Hepatosplenomegaly, Cleft soft palate, Hepatic steatos...	OMIM:619503
Sandhoff Disease	Kyphosis, Hearing impairment	ORPHA:796
Acromesomelic Dysplasia 4	Platyspondyly, Low-set ears, Rhizomelia, Disproportionate short stature, Umbilical hernia, Thorac...	OMIM:619636
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Gastroesophageal reflux, Downturned corners of mouth, Thick upper lip vermilion, Intrauterine gro...	OMIM:617360
Perlman Syndrome	Interrupted aortic arch, Distal ileal atresia, Volvulus, Pancreatic islet-cell hyperplasia, Agene...	OMIM:267000
Kyphomelic Dysplasia	Platyspondyly, Low-set ears, Flat face, Disproportionate short stature, Thoracic hypoplasia, Clef...	OMIM:211350
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Dentinogenesis imperfecta, Thin ribs, Disproportionate short-limb short stature, B...	OMIM:610915
Spondylocarpotarsal Synostosis Syndrome	Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, Sensorineural hearing i...	OMIM:272460
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Myopathy With Extrapyramidal Signs	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cerebellar dysplasia, Leu...	OMIM:615673
Short Stature And Facioauriculothoracic Malformations	Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Ventricular septal defect,...	OMIM:609654
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Decreased thalamic volume, Stomatocytosis, Intracerebral periventri...	ORPHA:168577
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis	OMIM:617092
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:620438
Congenital Disorder Of Glycosylation, Type Il	Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Villous atrophy, Splenomegaly, Hepato...	OMIM:608776
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Umbilical hern...	OMIM:251290
Opitz Gbbb Syndrome	Aortic root aneurysm, Ankyloglossia, Hypoplasia of the corpus callosum, Agenesis of corpus callos...	ORPHA:2745
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:615500
Ciliary Dyskinesia, Primary, 12	Short stature, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis	OMIM:612650
Acute Disseminated Encephalomyelitis	Diffuse white matter abnormalities, Abnormal basal ganglia morphology, Abnormal cerebellum morpho...	ORPHA:83597
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Aganglion...	ORPHA:2318
Ciliary Dyskinesia, Primary, 9	Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:612444
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Moderate postnatal growth retardation, Frontal bossing, Knee flexion contracture, Hip c...	OMIM:118650
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Gingival overgrowth, Open ...	OMIM:220500
Mend Syndrome	Aortic valve stenosis, Low-set ears, Cataract, Microretrognathia, Micrognathia, Anterior polar ca...	OMIM:300960
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Low-set ears, Mandibular prognathia, Frontal bossing, Malar flattening, Posteriorly rotated ears,...	OMIM:617011
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Cleft palate, Vascular ring, Accessory oral frenulum	OMIM:616954
Anophthalmia Plus Syndrome	Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa...	ORPHA:1104
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Abnormality of the pulmonary ar...	ORPHA:90308
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis, Hearing impairment	ORPHA:101078
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Sensorineural hearing impairment, Coarse facial features, Hyperlordosis, Short stature,...	ORPHA:3085
Ciliary Dyskinesia, Primary, 18	Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis	OMIM:614874
O'Donnell-Luria-Rodan Syndrome	Dolichocephaly, Abnormal facial shape, Kyphosis	OMIM:618512
Myopathy, Centronuclear, 2	Intrauterine growth retardation, Hyperlordosis, Scapular winging, Long face, High palate, Scolios...	OMIM:255200
Loeys-Dietz Syndrome 2	Chiari malformation, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneu...	OMIM:610168
Primary Non-Essential Cutis Verticis Gyrata	Periventricular leukomalacia, Ventricular septal defect, Microcephaly, Atrial septal defect, Scol...	ORPHA:357225
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Flat face, Multiple joint dislocation, Kyphosis, Elbow fle...	ORPHA:93360
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial s...	ORPHA:1915
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thr...	ORPHA:49827
Ruvalcaba Syndrome	Narrow chest, Dental crowding, Limited elbow extension, Delayed puberty, Short stature, Scoliosis...	OMIM:180870
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Branchial cyst, Secondary m...	ORPHA:508488
Aortic Arch Interruption	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:2299
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Intestinal malrotation, Ventricular septal ...	ORPHA:457193
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Pulmonic stenosis, Atrial septal defect, Submucous cleft hard palate	OMIM:619239
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Vertebral hypoplasia, Butterfly vertebrae, Hyp...	OMIM:206900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Brachycephaly, Cleft lip, Cupped ear, Triangular face, Ectopia pupillae, Contractur...	OMIM:618223
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Selective tooth agenesis...	OMIM:129900
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/...	OMIM:118100
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Fibrous syngnathia, Lip pit, Micrognathia, Thin upper lip vermilion, Abnorma...	ORPHA:1300
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory...	OMIM:613309
Radio-Renal Syndrome	High, narrow palate, Severe short stature, Abnormal form of the vertebral bodies, Retrognathia, D...	ORPHA:3015
Tarp Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Hepatic failure, Meckel diverticulum, Subdural hemor...	OMIM:311900
Tay-Sachs Disease	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Cherry red spot of the macula, Aspiratio...	ORPHA:845
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Intrauterine growth retardation, Hypoplasia of the corpus callosum, Ventricular septal defect, Do...	OMIM:617452
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypoplasia of the odontoid process, Micrognathia, Narrow mouth, Open mouth, Mitral valve prolapse...	ORPHA:508533
Joubert Syndrome 22	Temporal cortical atrophy, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Mo...	OMIM:615665
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Chiari malformation, Neuroendocrine neoplasm, Umbilical hernia, Proportiona...	ORPHA:404443
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Umbilical hernia, Frontal bossing, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Trigonocephaly With Short Stature And Developmental Delay	Short stature, High palate, Broad alveolar ridges, Ventricular septal defect	OMIM:314320
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cavum septum pellucidum, Pos...	ORPHA:96148
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Platyspondyly, Low-set ears, Broad clavicles, Natal tooth, Narrow chest, Lo...	ORPHA:50945
Joubert Syndrome 2	Abnormal corpus callosum morphology, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Hy...	OMIM:608091
Cockayne Syndrome Type 1	Abnormality of the dentition, Mandibular prognathia, Cataract, Hearing impairment, Widely spaced ...	ORPHA:90321
Tatton-Brown-Rahman Syndrome	Umbilical hernia, Ventricular septal defect, Chiari type I malformation, Atrial septal defect, En...	OMIM:615879
Camptodactyly Syndrome, Guadalajara Type 3	Symblepharon, Flat face, Retrognathia, Short neck, Facial asymmetry, Abnormal rib morphology, Spi...	ORPHA:488434
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Atrial septal defect	OMIM:113301
Acropectorovertebral Dysplasia	High, narrow palate, Spina bifida, Cleft palate	ORPHA:957
Nephronophthisis 16	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio...	OMIM:615382
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Branchial fistula, Ankyloglossia, Intrauterine growth retardation, Narrow mo...	ORPHA:261330
Restrictive Dermopathy 2	Short clavicles, Hypoplastic facial bones, Intrauterine growth retardation, Microretrognathia	OMIM:619793
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Intestinal malrotation, Postnatal growth retardation, Protruding ton...	OMIM:300963
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal defect, Short s...	OMIM:615279
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hypoplasia of the corpus callosum, Agenesis of corpus callo...	OMIM:613001
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Long philtrum, Abnormal heart morphology, Intrauterine growth retardation, A...	ORPHA:485405
Ramon Syndrome	Delayed eruption of teeth, Hearing impairment, Axenfeld anomaly, Short stature, Juvenile rheumato...	OMIM:266270
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Hearing impairment, Umbilical hernia, Sacral dimple, Malar ...	ORPHA:48652
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Cataract, Long philtrum, Postnatal growth retardation, Intrauterine growth retardat...	OMIM:257300
Tetraamelia Syndrome 2	Ankyloglossia, Bilateral lung agenesis, Ventricular septal defect, Bilateral cleft lip, Hypoplast...	OMIM:618021
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Recurrent pneumonia, Recurrent respiratory infections, Recurrent si...	OMIM:618282
Cerebrofaciothoracic Dysplasia	Narrow chest, Cleft upper lip, Low-set, posteriorly rotated ears, Vertebral segmentation defect, ...	ORPHA:1394
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia...	OMIM:618325
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Hearing impairment, Delayed cranial suture closure, Thoracic hemivertebrae, Microgn...	OMIM:268310
Timothy Syndrome	Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card...	OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Thoracolumbar scoliosis, ...	OMIM:620450
Al Kaissi Syndrome	High, narrow palate, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation...	OMIM:617694
Acrorenal-Mandibular Syndrome	Low-set ears, Narrow palate, Thin ribs, Hypoplastic scapulae, Narrow chest, Abnormal sacral segme...	OMIM:200980
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Short ribs, Preductal coarctation of the aorta, Stil...	OMIM:215045
19P13.12 Microdeletion Syndrome	Low-set ears, Conductive hearing impairment, Long philtrum, Intrauterine growth retardation, Vent...	ORPHA:254346
Cartilage-Hair Hypoplasia	Short neck, Neutropenia, Hepatomegaly, Pectus carinatum, Disproportionate short-limb short statur...	ORPHA:175
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal cerebral cortex morphology, Abnormal brainstem morphology, Growth delay, ...	ORPHA:411493
Pallister-Hall Syndrome	Microglossia, Anteriorly placed anus, Abnormal lung lobation, Decreased response to growth hormon...	OMIM:146510
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Micrognathia, Sensorineural hearin...	OMIM:608747
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Abnormal lung lobation, Decreased response to growth hormone stimulation test, Intrau...	OMIM:614114
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal cerebellar cortex morphology, Dilated cardiomyopathy, Intestinal pseudo-obstruction, Abn...	ORPHA:70595
16P13.11 Microdeletion Syndrome	Gastroesophageal reflux, Cleft upper lip, Exaggerated cupid's bow, Ventricular septal defect, Thi...	ORPHA:261236
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Ventricular septal defect, Cerebellar hypoplasia, Neonatal death, Hepatom...	OMIM:613730
Serkal Syndrome	Malrotation of small bowel, Ventricular septal defect, Orofacial cleft, Growth delay, Pulmonic st...	ORPHA:139466
Van Esch-O'Driscoll Syndrome	Bifid uvula, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Ventricular s...	OMIM:301030
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Disproportionate short stature, Rhizomelia, Hear...	ORPHA:15
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Everted upper lip vermilion, Widely spaced teeth, Absent cupid's bow, Ri...	ORPHA:513456
Braddock-Carey Syndrome 1	Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Enamel hypoplasia, Ever...	OMIM:619980
Warsaw Breakage Syndrome	Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth retardation, Ventricular s...	OMIM:613398
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Dental crowding, Downturned corners of mouth, Frontal bossing, Abnormal hear...	ORPHA:96182
Noonan Syndrome 7	Pectus carinatum, Growth delay, Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Short...	OMIM:613706
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Downturned corners of mouth, Umbilical hernia, Abnormal heart morphology, Widely spaced teeth, Op...	ORPHA:369891
Seizures-Scoliosis-Macrocephaly Syndrome	Gastroesophageal reflux, Atrial septal defect, Long philtrum	ORPHA:466926
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Broad ribs, Persistence of primary teeth, Multiple i...	OMIM:600002
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped...	OMIM:618395
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Esophagitis, Perineal fistula, Agenesis of corpus callosum, Atrial sep...	ORPHA:2538
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Optic disc coloboma, Agenesis o...	OMIM:300472
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Low-set ears, Retrognathia, Long philtrum, Frontal bossing, Postnatal grow...	OMIM:613563
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal defect, Thick ve...	OMIM:618506
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Downturned corners of mouth, Long phil...	OMIM:619720
Monosomy 9P	Low-set ears, Abnormality of the dentition, Atresia of the external auditory canal, Long philtrum...	ORPHA:261112
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fistula, Complete a...	OMIM:619343
Trisomy 1Q	Abnormal rib morphology, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventricular septal d...	ORPHA:261344
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Peripheral pulmonary artery stenosis, Tented upper lip vermilion, Aganglionic mega...	OMIM:614749
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Cerebral calcification, Barrel-shaped chest, Short neck, Atrial septal defect...	ORPHA:505248
Stevenson-Carey Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Narrow mouth, Atrial septal defect, Left su...	OMIM:611961
Meningioma	Abnormal hypothalamus physiology, Secondary growth hormone deficiency, Neurofibroma, Brain stem c...	ORPHA:2495
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Thoracic hypoplasia, Umbilical hernia, Postnatal growth retardation, Intrauterine g...	ORPHA:254528
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Narrow chest, Cleft lip, Natal tooth, Lateral clavicle hook, Tetralogy of Fallot, H...	OMIM:617925
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Chiari malformation, Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal...	OMIM:617159
Congenital Tracheal Stenosis	Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma...	ORPHA:141127
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Carpal synostosis, Micrognathia, Genu valgum, Ventricular septal defect, Bicuspid aortic valve, S...	OMIM:271640
Caudal Duplication	Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spina bifida, Abnormal sacrum morp...	ORPHA:1756
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Smooth philtrum, Ventricular septal defect	OMIM:620393
Holoprosencephaly	Aplasia/Hypoplasia of the corpus callosum, Abnormality of the spleen, Encephalocele, Ventricular ...	ORPHA:2162
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Gastroesophageal reflux, Patent foramen ovale	OMIM:617182
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Sit...	ORPHA:199302
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Cleft soft palate, Esophageal atresia, Atrial septal defect	OMIM:614526
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Carious teeth, Periodontitis, Open bite, Micrognathia, Genu valgum, Open mouth, Ever...	ORPHA:534
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Pectus carinatum, Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth p...	OMIM:617527
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Cutis Laxa, Autosomal Recessive, Type Ib	Low-set ears, Flat face, Retrognathia, Micrognathia, Prominence of the premaxilla, Abnormal pinna...	OMIM:614437
Toriello-Carey Syndrome	Low-set ears, Narrow chest, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, Anotia, Post...	ORPHA:3338
Orofaciodigital Syndrome V	Bifid uvula, Recurrent respiratory infections, Hamartoma of tongue, Ankyloglossia, Tetralogy of F...	OMIM:174300
Acrocallosal Syndrome	Low-set ears, Everted upper lip vermilion, Hearing impairment, Postnatal growth retardation, Narr...	OMIM:200990
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hamartoma of tongue, Abn...	ORPHA:2754
Bohring-Opitz Syndrome	Gastroesophageal reflux, Hypoplasia of the brainstem, Intestinal malrotation, Sacral dimple, Intr...	OMIM:605039
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma	OMIM:613490
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Cerebellar hypoplasia, Microcephaly, Vertebral segmentation defect, Sh...	OMIM:612530
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Hypodontia, Anal atresia, Neural tube defect	OMIM:119580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Short stature, Kyphosis	ORPHA:2786
Insulin-Like Growth Factor I, Resistance To	Severe short stature, Long philtrum, Intrauterine growth retardation, Narrow mouth, Patent forame...	OMIM:270450
Houge-Janssens Syndrome 3	Umbilical hernia, Muscular ventricular septal defect, Short philtrum, Atrial septal defect, High ...	OMIM:618354
Noonan Syndrome 10	Pectus carinatum, Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve pr...	OMIM:616564
Mend Syndrome	Aortic valve stenosis, Asymmetry of the mouth, Low-set ears, Abnormal auditory evoked potentials,...	ORPHA:401973
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Postnatal growth retardation, Micrognathia, Sensorineural heari...	OMIM:113620
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Retrognathia, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Anter...	OMIM:620510
20Q13.33 Microdeletion Syndrome	Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Smooth phi...	ORPHA:261311
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Narrow chest, Delayed eruption of teeth, Delayed cranial...	OMIM:309350
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Premature osteoarthritis, Increased intervertebral space, Car...	ORPHA:93314
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Narrow chest, Abnormal form of the vertebral bodies, Postnatal growth retardation, Mic...	ORPHA:73230
Aspergillosis	Pneumonia, Hepatitis, Abnormality of the vertebral column, Pleural effusion, Stroke, Abnormal eso...	ORPHA:1163
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Chime Syndrome	Cerebral cortical atrophy, Aplastic clavicle, Acute leukemia, Tetralogy of Fallot, Ventricular se...	ORPHA:3474
3Mc Syndrome	Low-set ears, Caudal appendage, Downturned corners of mouth, Hearing impairment, Umbilical hernia...	ORPHA:293843
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Short philtrum, High palate, Growth delay	ORPHA:3306
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature...	OMIM:608681
Aymé-Gripp Syndrome	Low-set ears, Delayed cranial suture closure, Megalocornea, Postnatal growth retardation, Narrow ...	ORPHA:1272
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Ruvalcaba Syndrome	Pectus carinatum, Narrow chest, Synostosis of carpal bones, Dental crowding, Abnormal vertebral e...	ORPHA:3121
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Microcephaly, Molar tooth sign on MRI, Short stature, Growth delay	OMIM:300804
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r...	OMIM:608647
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma...	ORPHA:206448
Spastic Paraplegia 46, Autosomal Recessive	Cataract, Hearing impairment, Ankle clonus, Scoliosis, Kyphosis	OMIM:614409
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Hurler Syndrome	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Endocardial fibro...	OMIM:607014
Pelger-Huet Anomaly	Abnormality of the dentition, Umbilical hernia, Recurrent otitis media, Gingival overgrowth, Medi...	OMIM:169400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:613870
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Genu valgum, Hypoplasia of the zygomatic bone	ORPHA:1295
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Dilated cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardat...	OMIM:610198
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis	OMIM:614017
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis	OMIM:616481
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Ovoid thoracolumbar ver...	OMIM:252920
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Med...	ORPHA:2919
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Low-set ears, Umbilical hernia, Postnatal growth retardation, Recurrent mandib...	OMIM:225410
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Low-set ears, Thin ribs, Narrow chest, Rhizomelia, Thoracic hypoplasia, N...	OMIM:151210
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis, Cataract	ORPHA:1875
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Delayed cranial suture closure, High palate, Atrial septal dilatatio...	OMIM:278250
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Nuclear cataract, Cleft upper lip, Abnormal dental enamel morpholo...	OMIM:601701
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:613808
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Dysphagia, Du...	ORPHA:1199
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Splenomegaly, Thickened ribs, Kyphoscoliosis, Ovoid...	OMIM:252930
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retarda...	ORPHA:505237
Cornelia De Lange Syndrome 6	Low-set ears, Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Lo...	OMIM:620568
Arima Syndrome	Cerebellar vermis hypoplasia, Optic atrophy, Hepatic fibrosis, Growth delay, Hypoplasia of the br...	OMIM:243910
Kapur-Toriello Syndrome	Cleft upper lip, Intestinal malrotation, Intrauterine growth retardation, Ventricular septal defe...	OMIM:244300
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Cataract, Microcornea, Prominent antihelix, Delayed eruption of teeth...	OMIM:268400
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Hip dislocation, Absent pubertal growth spurt, Downturned corners of mouth, Sensorineural hearing...	ORPHA:464282
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Widely spaced teeth, Hydrocephalus, Atrial septal defect, Short stature, C...	ORPHA:459061
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell...	OMIM:609583
Williams-Beuren Syndrome	Recurrent otitis media, Open mouth, Mitral valve prolapse, Ventricular septal defect, Sensorineur...	OMIM:194050
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Tetralogy of Fallot, ...	ORPHA:96167
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scolios...	OMIM:214300
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Pancreatic Agenesis-Holoprosencephaly Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Intrauterine growth retardation, Prominent occipu...	ORPHA:556955
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Short sta...	ORPHA:2578
Prolidase Deficiency	Carious teeth, Hypoplasia of the zygomatic bone, Hearing impairment, Micrognathia, Genu valgum, A...	ORPHA:742
Campomelic Dysplasia	Low-set ears, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Hea...	OMIM:114290
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections...	OMIM:614935
Tarp Syndrome	Abnormal corpus callosum morphology, Optic atrophy, Extramedullary hematopoiesis, Tetralogy of Fa...	ORPHA:2886
Plaa-Associated Neurodevelopmental Disorder	Pectus carinatum, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Tented upper li...	ORPHA:521426
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Cleft lip, Intrauterine growth retardation, Bilateral l...	OMIM:611812
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Pectus carinatum, Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Pectus e...	OMIM:301039
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Intrauterine growth retardation, Periv...	OMIM:300998
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Becker Nevus Syndrome	Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios...	ORPHA:64755
Aase-Smith Syndrome I	Open mouth, Hydrocephalus, Cleft palate, Ventricular septal defect	OMIM:147800
X-Linked Hypophosphatemia	Rachitic rosary, Disproportionate short stature, Frontal bossing, Sacroiliac joint synovitis, Gen...	ORPHA:89936
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina...	OMIM:243150
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Ventricular septal defect, Short neck, Atrial septal defect, Neutrop...	OMIM:105650
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Femoral-Facial Syndrome	Gastroesophageal reflux, Absent vertebra, Dysplastic sacrum, 11 pairs of ribs, Encephalocele, Age...	OMIM:134780
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Dilate...	ORPHA:3078
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Narrow mouth, Open mouth, Microdontia, Atrial septal defect, Delayed eruption of permanent teeth	OMIM:619356
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology, Meckel diverticulum, Abnormal ...	ORPHA:163961
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, High palate, Retrognathia	ORPHA:456328
Intellectual Disability-Strabismus Syndrome	Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Intrauterine grow...	ORPHA:363528
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secon...	OMIM:614961
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Abnormally ossifie...	ORPHA:2167
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardatio...	ORPHA:1052
Wolcott-Rallison Syndrome	Short stature, Growth delay, Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Thin corpus callosum, Atrophy/Degeneration affecting the brainstem, ...	OMIM:616277
Acrocardiofacial Syndrome	Cleft upper lip, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, Ventricul...	ORPHA:2008
Lambotte Syndrome	Intrauterine growth retardation, Semilobar holoprosencephaly, Narrow mouth, Ventricular septal de...	OMIM:245552
Intellectual Developmental Disorder, Autosomal Dominant 47	Gastroesophageal reflux, Cerebral atrophy, Intrauterine growth retardation, Ventricular septal de...	OMIM:617635
Grange Syndrome	Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Growth delay, Atrial septal defect	OMIM:620211
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polymicrogyria, Ventricular septal defect, Hydrocephalus, Cavum septum pellucidum, Leukemia, Mega...	OMIM:602501
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Short stature, Scoliosis, Kyphosis	OMIM:618124
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Pectus carinatum, Gastroesophageal reflux, Secondary microcephaly, Mitral valve prolapse, Cerebel...	OMIM:300986
Cat-Eye Syndrome	Hearing impairment, Intrauterine growth retardation, Abnormal rib morphology, Short stature, Iris...	ORPHA:195
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven...	ORPHA:363958
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Narrow mouth, Patent foramen ovale, High palate, D...	OMIM:616866
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ven...	OMIM:210710
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Patent foramen ovale, Thin ...	OMIM:620075
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Hydrocephalus, Cleft palate	OMIM:243440
Baralle-Macken Syndrome	High, narrow palate, Cataract, Kyphosis	OMIM:619255
Desbuquois Syndrome	Severe short stature, Disproportionate short-limb short stature, Bell-shaped thorax, Ventricular ...	ORPHA:1425
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Ventricular septal defect	OMIM:616816
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis...	OMIM:267010
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Gastroesophageal reflux, Thoracic hemivertebrae, Bicuspid aortic valve, M...	OMIM:619721
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Hypoplasia of the corpus callosum, Ventricular septal defect, Cirrhosis, Atria...	OMIM:270400
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Patent foramen ova...	ORPHA:60041
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic scapulae, Narrow chest, Disproportionate short stature, Retrognathia, Postnatal growt...	OMIM:210720
Doors Syndrome	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Gastroesophagea...	ORPHA:79500
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Oral leukoplakia, Hearing impairment, Camptodact...	ORPHA:2907
Bruck Syndrome	Platyspondyly, Pterygium, Wormian bones, Short stature, Triangular face, Scoliosis, Kyphosis	ORPHA:2771
Cardioacrofacial Dysplasia 2	Conical tooth, Atrioventricular canal defect, Tented upper lip vermilion, Hypodontia, Deep philtr...	OMIM:619143
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growth retardation, Esophagitis,...	OMIM:612562
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Postnatal growth retardation, Micrognathia, Poorly ossified verteb...	OMIM:619135
Larsen Syndrome	Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Intrauterine ...	OMIM:150250
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Camptodactyly of finger, Open bite, Thick lower lip vermilion, Wide ...	ORPHA:85293
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Ec...	ORPHA:2473
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Abnormal heart morphology, Submucous cleft hard palate, Ventricular septal defect,...	ORPHA:457279
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Pectus carinatum, Molar too...	OMIM:618161
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal heart morphology, Hy...	OMIM:276950
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Smith-Lemli-Opitz Syndrome	Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Short neck, Atrial septal d...	ORPHA:818
Fucosidosis	Abnormality of the dentition, Hearing impairment, Cardiomegaly, Brachycephaly, Coarse facial feat...	ORPHA:349
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Meningocele,...	ORPHA:101030
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Hypertrophic cardiomyopathy, Abnormal brainstem morphology, Aplasia/Hypoplasia of ...	ORPHA:79279
Weaver Syndrome	Joint contracture of the hand, Retrognathia, Long philtrum, Umbilical hernia, Limited elbow exten...	OMIM:277590
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Ventricular septal defect, Abnormality of the philtrum, Short stature, Non-midl...	ORPHA:1770
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Severe short stature, Abnormality of the wrist, Intrauterine growt...	ORPHA:2319
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph...	ORPHA:2041
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Mitral valve prolapse, Patent foramen ovale, High p...	OMIM:615539
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Intrauterine growth retardation, Ventricular septal defect, Miss...	OMIM:147791
Fryns Syndrome	Thin ribs, Hypoplasia of the optic tract, Agenesis of corpus callosum, Ventricular septal defect,...	OMIM:229850
Wildervanck Syndrome	Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae	ORPHA:3456
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Short stature, High ...	OMIM:619542
Teebi Hypertelorism Syndrome 1	Natal tooth, Aortic root aneurysm, Long philtrum, Dental crowding, Ventricular septal defect, Thi...	OMIM:145420
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Bifid uvula, Aplastic clavicle, Severe short stature, Cranial hyperostosis, ...	ORPHA:2658
Loeys-Dietz Syndrome 6	Bifid uvula, Spontaneous pneumothorax, Ventricular hypertrophy, Broad uvula, Vertebral artery ane...	OMIM:619656
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Thick upper lip vermilion, Open mouth, Atrial septal defect, Wide mouth	OMIM:611087
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Scoliosis, Kyphosis	OMIM:618234
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Asymmetry of the thorax, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Malar flattenin...	ORPHA:457359
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Optic atrophy, Cleft soft palate, Agenesis of corpus callosum, Micr...	ORPHA:99742
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Fu...	OMIM:274000
Hypocalcemic Vitamin D-Dependent Rickets	Rachitic rosary, Delayed eruption of teeth, Cardiomyopathy, Postnatal growth retardation, Enlarge...	ORPHA:289157
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Patent foramen ovale, Short stature, Hypoplasia of teeth, Accessory o...	ORPHA:88630
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Genu valgum, Sensorineural hearing impairment, Short neck, Pec...	ORPHA:309282
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, In...	OMIM:603467
Intellectual Developmental Disorder, Autosomal Dominant 72	Microcephaly, Short neck, Spina bifida, Macrocephaly	OMIM:620439
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca...	ORPHA:1692
Focal Dermal Hypoplasia	Gastroesophageal reflux, Duodenal atresia, Umbilical hernia, Acute hepatic failure, Ventricular s...	ORPHA:2092
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Dental crowding, Frontal bossing, Intrauterine growth retardation, Micrognathia, T...	OMIM:619005
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Dubowitz Syndrome	Low-set ears, Carious teeth, Velopharyngeal insufficiency, Megalocornea, Postnatal growth retarda...	OMIM:223370
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Broad clavicles, Microglossia, Delayed cranial suture closure, Elbo...	OMIM:151050
Joubert Syndrome 8	Occipital encephalocele, Hepatomegaly, Molar tooth sign on MRI, Prolonged neonatal jaundice, Opti...	OMIM:612291
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Laryngeal stenosis, Horizontal ribs, Short ribs, Irregular chondrocostal junc...	OMIM:187760
Adams-Oliver Syndrome 6	Ventricular septal defect, Esophageal varix, Truncus arteriosus	OMIM:616589
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Atrial septal defect	OMIM:616459
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Recurrent corneal ...	OMIM:153400
Gaucher Disease, Type Ii	Gastroesophageal reflux, Bronchiolitis, Cerebral atrophy, Splenomegaly, Anemia, Thrombocytopenia,...	OMIM:230900
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Recurrent sinusitis	OMIM:612518
Sweeney-Cox Syndrome	Narrow chest, Gastroesophageal reflux, Velopharyngeal insufficiency, Median cleft palate, Patent ...	OMIM:617746
Marfan Syndrome	Open bite, Micrognathia, Mitral valve prolapse, Limited elbow movement, Flat cornea, Protrusio ac...	ORPHA:558
Alg1-Cdg	Cardiomyopathy, Abnormal heart morphology, Abnormal facial shape, Scoliosis, Kyphosis	ORPHA:79327
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Flat face, Narrow mouth, Malar flattening, Cardiomegaly, Dolicho...	ORPHA:2463
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Cranioectodermal Dysplasia 2	Low-set ears, Micrognathia, Short neck, Atrial septal defect, Everted lower lip vermilion, High p...	OMIM:613610
Pseudoachondroplasia	Platyspondyly, Genu recurvatum, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyp...	OMIM:177170
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Growth delay, Downturned corners of mouth, Hearing impairment, Bilateral camptodactyly, Thin uppe...	OMIM:619557
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, ...	OMIM:614609
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Platyspondyly, Pectus carinatum, Rhizomelia, Narrow chest, Aortic root aneurysm, 11 pairs of ribs...	OMIM:245600
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Donnai-Barrow Syndrome	Intestinal malrotation, Ventricular septal defect, Umbilical hernia	ORPHA:2143
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Myelomeningocele, Congenital sensorineural hearing impairment, Supernume...	OMIM:193500
Opitz Gbbb Syndrome	Gastroesophageal reflux, Growth delay, Unilateral cleft lip, Cleft upper lip, Umbilical hernia, R...	OMIM:300000
Lethal Kniest-Like Dysplasia	Platyspondyly, Narrow chest, Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic verteb...	ORPHA:2347
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Patent foramen ovale, Ventricular septal ...	OMIM:618027
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Hypoplasia of the corpus callosum, Ventricular septal de...	ORPHA:2519
Cantú Syndrome	Platyspondyly, Narrow chest, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve ...	ORPHA:1517
Semilobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Growth delay, Scoliosis, Aspiration pneumonia, Abnormal hea...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Growth delay, Scoliosis, Aspiration pneumonia, Abnormal hea...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Growth delay, Scoliosis, Aspiration pneumonia, Abnormal hea...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Growth delay, Scoliosis, Aspiration pneumonia, Abnormal hea...	ORPHA:93924
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Pachygyria, Coronar...	OMIM:620024
Chiari Malformation Type Ii	Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Spina bi...	OMIM:207950
Microform Holoprosencephaly	Tetralogy of Fallot, Intrauterine growth retardation, Tented upper lip vermilion, Solitary median...	ORPHA:280200
Jansen-De Vries Syndrome	Gastroesophageal reflux, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aortic val...	OMIM:617450
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, H...	OMIM:200600
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Communicating hyd...	OMIM:244400
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Secondary microcephaly, 11 pairs of ribs, Hypoplasia of the corpus ...	OMIM:620073
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Genu valgum, Abnormal mitral valve morphology, Sen...	ORPHA:581
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Intrauterin...	OMIM:620327
Noonan Syndrome	Pectus carinatum, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Low-set, posteriorly ro...	ORPHA:648
Rhizomelic Limb Shortening With Dysmorphic Features	Smooth philtrum, Rhizomelia, Long philtrum, Patent foramen ovale	OMIM:618821
Kapur-Toriello Syndrome	Intestinal malrotation, Tetralogy of Fallot, Ventricular septal defect, Orofacial cleft, Patent d...	ORPHA:2328
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Kbg Syndrome	Long philtrum, Macrotia, Cervical ribs, Macrodontia, Tented upper lip vermilion, Oligodontia, Pro...	OMIM:148050
Aceruloplasminemia	Abnormal pancreas morphology, Abnormal corpus striatum morphology, Abnormal dentate nucleus morph...	ORPHA:48818
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Disproportionate short stature, Abnormal cerebral vascular morphology, Intrauterine growth retard...	ORPHA:2637
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Intrauterine growth retardation, Cleft soft palate, Thin upper lip...	OMIM:620183
Waardenburg Syndrome Type 1	Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Meningocele, Cl...	ORPHA:894
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Tetralogy of Fallot, Postnata...	ORPHA:1465
Dominant Beta-Thalassemia	Abnormality of the dentition, Dilated cardiomyopathy, Hyperplasia of the maxilla, Frontal bossing...	ORPHA:231226
Joubert Syndrome 33	Splenomegaly, Molar tooth sign on MRI	OMIM:617767
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis, Hearing impairment	OMIM:610743
Noonan Syndrome 2	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septa...	OMIM:605275
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Tented upper lip vermilion, Wide mouth, Open mouth, Atrial septal defect	ORPHA:500533
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Joubert Syndrome 6	Cerebellar vermis hypoplasia, Hepatic fibrosis, Hypoplasia of the brainstem, Dilated fourth ventr...	OMIM:610688
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly, Brachycephaly, Sacral dimple, Flat occiput	ORPHA:2211
Witteveen-Kolk Syndrome	Hearing impairment, Hyperplasia of the maxilla, Narrow mouth, Open mouth, Glue ear, Sensorineural...	OMIM:613406
Down Syndrome	Narrow mouth, Protruding tongue, Open mouth, Ventricular septal defect, Celiac disease, Anal atre...	ORPHA:870
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis, Hearing impairment	ORPHA:99014
Joubert Syndrome 39	Hypoplastic left heart, Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign o...	OMIM:619562
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Postnatal growth retardation, Ventricular septal defect, Aplasi...	OMIM:135900
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Pachygyria, Protruding tongue, Patent foramen ovale, Hypoplasia of the corpu...	OMIM:619179
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Narrow chest, Plagiocephaly, Kyphosis, Abnormal form of the vertebral bodies, Conductiv...	ORPHA:3042
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Cerebellar atrophy, Secundum atrial septal defect, Decreased liver funct...	OMIM:608779
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Umbilical hernia, Intrauterine growth retardation, Abnormal mitral valve morpholog...	ORPHA:1292
Coach Syndrome 3	Anemia, Portal fibrosis, Molar tooth sign on MRI	OMIM:619113
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Narrow chest, Rhizomelia, Long philtrum, Delayed cranial suture closur...	OMIM:610682
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Hypoplasia of the pons, Cerebellar hypoplasia, Schizencephaly, Short st...	OMIM:615220
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Intrauterine growth retardatio...	OMIM:300707
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Agenesis of corpus callosum, Ventricular septal defect, Elevated...	OMIM:614866
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Micrognathia, Bell-shaped thorax, Short neck, Anterior rib cu...	OMIM:271665
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Aortic root aneurysm, Aortic dissection, Arterial ...	OMIM:614816
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Hip dislocation, Protruding ear, Round face, High palate, Scoliosis, Kyphosis, I...	OMIM:254090
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Disproportionate short-limb short st...	ORPHA:93351
Periventricular Nodular Heterotopia 7	Dental crowding, Narrow mouth, Ventricular septal defect, Cleft palate, Pierre-Robin sequence	OMIM:617201
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormality of the sphenoid sinus, Micrognathia, Genu valgum, Mitral valve prolapse, Ventricular ...	ORPHA:363700
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf...	OMIM:612541
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Open mouth, Narrow mouth, Ventricular septal defect, Atrial septa...	OMIM:300967
Loeys-Dietz Syndrome 1	Chiari malformation, Aortic root aneurysm, Mitral valve prolapse, Eosinophilic infiltration of th...	OMIM:609192
Mesomelic Dysplasia, Kantaputra Type	Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta...	ORPHA:1836
Alpha-Thalassemia	Pericardial effusion, Malar prominence, Hyperplasia of the maxilla	ORPHA:846
Chromosome 9P Deletion Syndrome	High, narrow palate, Long philtrum, Narrow mouth, Ventricular septal defect, Thin upper lip vermi...	OMIM:158170
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Enlarged ton...	ORPHA:217093
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Deep philtrum, Esophageal atresia, Atrial septal defect, Short stature...	OMIM:610536
Jaberi-Elahi Syndrome	Low-set ears, Pectus carinatum, Cataract, Triangular mouth, Protruding ear, Scoliosis, Kyphosis	OMIM:617988
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Gastroesophageal reflux, Secundum atrial septal defect, Postnatal growth retardation, Thin upper ...	OMIM:620242
Fanconi Anemia	Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Atrial septal defect, High palate, A...	ORPHA:84
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Tooth agenesis, Non-midline cleft of the upper lip, Bilateral cleft palate	ORPHA:2003
Mgat2-Cdg	Dental crowding, Prominent antihelix, Abnormal earlobe morphology, Abnormal heart morphology, Low...	ORPHA:79329
Kleefstra Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Delayed eruption of teeth, Tetralogy of Fal...	ORPHA:261494
19P13.3 Microduplication Syndrome	Gastroesophageal reflux, Intrauterine growth retardation, Narrow mouth, Ventricular septal defect...	ORPHA:447980
Sotos Syndrome	High, narrow palate, Gastroesophageal reflux, Cavum septum pellucidum, Muscular ventricular septa...	OMIM:117550
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Hypoplasia of the corpus callosum, Thoracic scoliosis, Pulmona...	ORPHA:79330
Alagille Syndrome 2	Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis...	OMIM:610205
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di...	ORPHA:3282
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Dysphagia, Ventricular septal defect	OMIM:619083
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis	OMIM:615434
Arthrogryposis, Distal, Type 4	Hypoplastic helices, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Cranial asymmetry, Scoli...	OMIM:609128
Cerebrooculonasal Syndrome	Low-set ears, Narrow palate, Iris coloboma, Conductive hearing impairment, Downturned corners of ...	OMIM:605627
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Ventricular septal def...	OMIM:617895
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Decreased response to growth hormone stimulation t...	OMIM:610978
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Intrauterine growth retardation, Atrial septal defect, Short stature, Recurrent lower respiratory...	OMIM:618005
Keutel Syndrome	Optic atrophy, Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Short s...	ORPHA:85202
X-Linked Lissencephaly With Abnormal Genitalia	Exocrine pancreatic insufficiency, Ventricular septal defect, Agenesis of corpus callosum, Agangl...	ORPHA:452
Adams-Oliver Syndrome 5	Umbilical hernia, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventri...	OMIM:616028
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Abnormal heart valve morphology, Recurrent shoulder dislocation, Mitral val...	ORPHA:230851
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis, Osteoarthritis	ORPHA:2114
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Secundum atrial septal defect, Downturned corners of mouth, Long philtrum, Hypertrop...	OMIM:619121
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Cerebellar vermis hypoplasia, Ventricular hypertrophy, Pectus carinatum, Aortic root aneurysm, Re...	OMIM:620654
Zaki Syndrome	Cerebellar vermis hypoplasia, Dilated fourth ventricle, Patent foramen ovale, Hypoplasia of the c...	OMIM:619648
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Postnatal growth retardation, L...	ORPHA:254534
Alzahrani-Kuwahara Syndrome	Low-set ears, Coronary sinus enlargement, Cataract, Hearing impairment, Long philtrum, Frontal bo...	OMIM:619268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormal cortical gyration, Recurrent respiratory infections, Sacral dimple, Hypopla...	OMIM:300968
Spastic Paraplegia 53, Autosomal Recessive	Pectus carinatum, Kyphosis	OMIM:614898
Ulbright-Hodes Syndrome	Low-set ears, Thin ribs, Postnatal growth retardation, Micrognathia, Narrow mouth, Humeroradial s...	ORPHA:3404
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Truncus arteriosus, Abnormal optic disc morphology, Pineal cyst, Paten...	OMIM:617516
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Chiari type I malformation, Cerebral w...	ORPHA:436003
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Mucolipidosis Type Ii	Postnatal growth retardation, Abnormal mitral valve morphology, Hip contracture, Sensorineural he...	ORPHA:576
Proteus Syndrome	Venous malformation, Open mouth	OMIM:176920
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Optic atrophy, Hypoplastic coccygeal vertebrae, Dilation of Virchow-Robin spaces, Hypoplasia of t...	OMIM:619512
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Atrial septal defect, Atelectasis	ORPHA:896
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarcta...	OMIM:600460
Hypoglossia-Hypodactyly Syndrome	Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognathia, Narrow mouth, H...	ORPHA:989
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins	OMIM:126320
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Cranium bifidum occultum, Cataract, Microcornea, Cle...	OMIM:229400
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Atrial sep...	OMIM:615219
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v...	ORPHA:2184
Joubert Syndrome 31	Hypoplasia of the corpus callosum, Molar tooth sign on MRI	OMIM:617761
Ravine Syndrome	Abnormal basal ganglia morphology, Abnormal brainstem morphology, Abnormal auditory evoked potent...	ORPHA:99852
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Agenesis o...	OMIM:607872
Chops Syndrome	High, narrow palate, Optic atrophy, Gastroesophageal reflux, Aspiration pneumonia, Splenomegaly, ...	OMIM:616368
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Peripheral a...	ORPHA:217085
Kawasaki Disease	Vasculitis, Strawberry tongue, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:2331
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ...	OMIM:617168
Heme Oxygenase 1 Deficiency	Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Elevated circulating aspartate aminotransf...	OMIM:614034
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr...	OMIM:218600
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Mitral valve prolapse, Supernumerary ribs, Microcephaly, Spherocy...	ORPHA:251066
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Thin vermilion border, Ventr...	OMIM:610759
Linear Skin Defects With Multiple Congenital Anomalies 1	Anteriorly placed anus, Colonic atresia, Histiocytoid cardiomyopathy, Ventricular septal defect, ...	OMIM:309801
Duane-Radial Ray Syndrome	Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Vascular dilatation, Atrial sept...	OMIM:607323
Brachyolmia Type 3	Platyspondyly, Barrel-shaped chest, Childhood-onset short-trunk short stature, Short neck, Scolio...	OMIM:113500
Orofaciodigital Syndrome Type 1	Hearing impairment, Open bite, Micrognathia, High palate, Tarsal synostosis, Chronic otitis media...	ORPHA:2750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Atrial septal defect, Short sta...	OMIM:614207
White-Sutton Syndrome	Bifid uvula, Gastroesophageal reflux, Hypoplastic cervical vertebrae, Cerebral atrophy, Intrauter...	OMIM:616364
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Abnormal earlobe morphology, Umbilical hernia, Postnatal growth retardation, Intrau...	ORPHA:96191
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Hearing impairment, Cleft soft palate, Ventricular septal defect, Osteocho...	ORPHA:268261
Char Syndrome	Agenesis of permanent teeth, Persistence of primary teeth, Ventricular septal defect, Triangular ...	ORPHA:46627
Dysosteosclerosis	Platyspondyly, Optic atrophy, Cerebral calcification, Abnormal cranial nerve morphology, Ventricu...	ORPHA:1782
Seckel Syndrome 9	Pulmonary artery hypoplasia, Intrauterine growth retardation, Ventricular septal defect, Microcep...	OMIM:616777
Meier-Gorlin Syndrome 7	Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Complete atrioventricular canal defect,...	OMIM:617063
Joubert Syndrome 28	Optic disc pallor, Molar tooth sign on MRI	OMIM:617121
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Gastroesophageal reflux, Atrioventricular canal defect, Coarctation of aorta, Spina ...	OMIM:619480
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Tr...	ORPHA:3412
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Narrow chest, Pancreatic lymphangiectasis, Splenomeg...	OMIM:235255
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Cerebral cortical atrophy, Gastroesophageal reflux, Kyphosis, Abnormal bra...	ORPHA:464311
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Long philtrum, Int...	OMIM:618500
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Proportionate short s...	ORPHA:488618
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Cerebral atrophy, Cholestasis, Hepatic steatosis,...	OMIM:614300
Isolated Exencephaly	Low-set ears, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Abnormal facial skele...	ORPHA:563612
Orofaciodigital Syndrome I	Ankyloglossia, Agenesis of corpus callosum, High palate, Cerebral atrophy, Hamartoma of tongue, M...	OMIM:311200
Wiedemann-Steiner Syndrome	Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Exaggerated cupid's...	OMIM:605130
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Hepatic failure, Elevated circulating hepatic transaminase ...	OMIM:118450
Alg12-Cdg	Abnormal peripheral nervous system morphology, Recurrent pneumonia, Gastroesophageal reflux, Elev...	ORPHA:79324
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Carious teeth, Conductive hearing impairment, Cardiomyopathy,...	ORPHA:90324
Kaufman Oculocerebrofacial Syndrome	Intestinal malrotation, Bell-shaped thorax, Hypoplasia of the corpus callosum, Ventricular septal...	OMIM:244450
Muscle-Eye-Brain Disease	Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
ERI1-related disease	Platyspondyly, Pectus carinatum, Narrow chest, Velopharyngeal insufficiency, Abnormal heart morph...	OMIM:608739
Noonan Syndrome 13	Gastroesophageal reflux, Long philtrum, Widely spaced teeth, Mitral valve prolapse, Microdontia, ...	OMIM:619087
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Spondylo-Ocular Syndrome	Platyspondyly, Ventricular septal defect, Short neck, Disproportionate short-trunk short stature,...	ORPHA:85194
Beta-Thalassemia Major	Abnormality of the dentition, Dilated cardiomyopathy, Hyperplasia of the maxilla, Frontal bossing...	ORPHA:231214
Alg9-Cdg	Bifid uvula, Rhizomelia, Gastroesophageal reflux, Cerebellar atrophy, Periportal fibrosis, Cerebr...	ORPHA:79328
Roberts-Sc Phocomelia Syndrome	Low-set ears, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathia, Ventricular...	OMIM:268300
17Q23.1Q23.2 Microdeletion Syndrome	Gastroesophageal reflux, Widely spaced teeth, Intrauterine growth retardation, Narrow mouth, Atri...	ORPHA:261279
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Abnormal vertebral morphology, Prominent scalp veins, Beaking of vertebral...	ORPHA:536471
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Dilated cardiomyopathy, Elbow flexion contracture, Back pain, Sprengel anomaly, Hyperlordosis, Sc...	ORPHA:98855
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect, Diffuse cerebral atrophy, Hypothalamic hamartoma, Thin corpus callosum...	OMIM:619908
Roberts Syndrome	Cataract, Synostosis of carpal bones, Cleft upper lip, Absent earlobe, Postnatal growth retardati...	ORPHA:3103
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Cataract, Retrognathia, Hypertrophic cardiomyopathy, Kyphoscoliosis, Protruding ear...	OMIM:617403
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Arterial dissection, Recurrent pneumonia, Aortic dissection, Abnormal venous...	ORPHA:1900
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Ventricular septal defect, Triang...	OMIM:619762
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Conotruncal defect, Prot...	ORPHA:96147
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Atrial septal defect, Thick vermilion border, Short stature, Wide mo...	OMIM:611553
3Mc Syndrome 1	Cleft lip, Dental crowding, Cleft upper lip, Postnatal growth retardation, Ventricular septal def...	OMIM:257920
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Anisopoikilocytosis, Chiari malformation, Intrauterine...	ORPHA:46059
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Long philtrum, Tented upper lip vermilion, Thin upper lip vermilion, Short philtrum...	OMIM:619244
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertrophic cardiomyopathy, Elbow flexion contracture, Back pain, Short neck, Sprengel anomaly, ...	ORPHA:98863
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Secondary microceph...	OMIM:619167
Nephrotic Syndrome, Type 11	Cleft lip, Dilated cardiomyopathy, Ventricular septal defect, Smooth philtrum, High palate, Cleft...	OMIM:616730
Trisomy X	Pectus excavatum, Atrial septal defect, Ventricular septal defect	ORPHA:3375
Acromelic Frontonasal Dysplasia	Hypoplasia of the olfactory bulb, Hypopituitarism, Median cleft palate, Encephalocele, Agenesis o...	ORPHA:1827
Leptin Receptor Deficiency	Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te...	OMIM:614963
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Long philtrum, Open mouth, Anal atresia, Atrial septal de...	OMIM:614080
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Platyspondyly, Pectus carinatum, Increased vertebral height, Perim...	OMIM:620662
Otopalatodigital Syndrome, Type Ii	Low-set ears, Postnatal growth retardation, Micrognathia, Narrow mouth, Short neck, Atrial septal...	OMIM:304120
Camurati-Engelmann Disease	Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Hearing impairment, Abnorm...	ORPHA:1328
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Tetralogy of Fallot, Encephalocel...	OMIM:100300
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Microcephaly, Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decr...	OMIM:615160
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle,...	OMIM:619575
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Emery-Dreifuss Muscular Dystrophy	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elbow flexion contracture, Back pain, Spreng...	ORPHA:261
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Pectus carinatum, Craniofacial osteosclerosis, Bell-shap...	OMIM:618476
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elbow flexion contracture, Back pain, Spreng...	ORPHA:98853
Neu-Laxova Syndrome	Lissencephaly, Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Intrauterine growth retar...	ORPHA:2671
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Narrow chest, Pancreatic lymphangiectasis, Postnatal...	ORPHA:1655
Ring Chromosome 7 Syndrome	Bifid uvula, Flat face, Plagiocephaly, Prominent crus of helix, Genu valgum, Situs inversus total...	ORPHA:1449
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Decreased liver function, Extramedullary hematopoiesis, Sidero...	OMIM:617021
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Optic disc coloboma, Umbilical hernia, P...	OMIM:618454
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion...	OMIM:611926
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Recurrent upper respiratory tract infections, Elevated circulating ...	ORPHA:293987
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Iris coloboma, Hearing impairment, Calvarial skull defect, Missing ri...	ORPHA:1647
Costello Syndrome	Pectus carinatum, Cerebral atrophy, Hypertrophic cardiomyopathy, Enlarged cerebellum, Vestibular ...	OMIM:218040
Weill-Marchesani Syndrome	Short stature, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Megalencephaly	Atrial septal defect	ORPHA:2477
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Lateral ventricle dilatation, Thoracic hypoplasia, Secondary microceph...	OMIM:300868
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Abnormal rib morphology, Short stature, Craniosynostosis	ORPHA:436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:606612
Bickerstaff Brainstem Encephalitis	Pneumonia, Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autono...	ORPHA:79138
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Flat glenoid fossa, Conductive hearing impairment, Disproportionate short-limb short stature, Rec...	OMIM:250420
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, Pectus excavatum, ...	ORPHA:457284
Peters Plus Syndrome	Postnatal growth retardation, Micrognathia, Short neck, Round face, Iris coloboma, Long face, Ant...	ORPHA:709
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Polymicrogyria, Elevated circulating aspar...	OMIM:620609
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Thin ribs, Rhizomelia, Intrauterine growth retardation, 11 pairs of ribs, Hydrocep...	OMIM:300863
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Coronary-pulmonary artery fistula, Patent foramen ovale	OMIM:619699
Lymphatic Malformation 6	Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Pleural effusion, Splenomegaly...	OMIM:616843
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormality of neutrophils, Abnormal brainstem morphology, Aplasia/Hypoplasia...	ORPHA:2720
Mucopolysaccharidosis, Type Iiid	Recurrent upper respiratory tract infections, Cerebellar atrophy, Asymmetric septal hypertrophy, ...	OMIM:252940
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Cerebral cortical atrophy, Gastroesophageal reflux, Kyphosis, Hypoplasia o...	ORPHA:464306
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ...	OMIM:619573
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Flexion contracture of finger, Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:618484
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumonia, Pulmonary hyp...	OMIM:613177
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Chiari malformation, Annular pancreas, Hydrocephalus, Atrial septal defect, Pectus ex...	OMIM:618162
Holt-Oram Syndrome	Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Patent...	OMIM:142900
Wrinkly Skin Syndrome	Low-set ears, Congenital hip dislocation, Carious teeth, Delayed eruption of teeth, Long philtrum...	ORPHA:2834
Noonan Syndrome 9	Short stature, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic trans...	OMIM:614921
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Growth delay, Umbilical hernia, Median pseudocleft lip, Recurrent ...	OMIM:619758
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, A...	ORPHA:231160
Dyggve-Melchior-Clausen Disease	Severe short stature, Platyspondyly, Rhizomelia, Recurrent upper respiratory tract infections, Hy...	ORPHA:239
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Cerebellar vermis hypoplasia, Secundum atrial septal defect, Cerebral atrophy, Hypop...	OMIM:615802
Short Stature-Micrognathia Syndrome	Rhizomelia, Gastroesophageal reflux, Intrauterine growth retardation, Ventricular septal defect, ...	OMIM:617164
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Rhizomelia, Joint dislocation, Thoracic hypoplasia, Dispro...	OMIM:618019
Trisomy 8Q	Myelomeningocele, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion...	ORPHA:1752
Fontaine Progeroid Syndrome	Protruding tongue, Hypoplasia of the corpus callosum, Neonatal death, Bicuspid aortic valve, Atri...	OMIM:612289
Schinzel-Giedion Syndrome	Low-set ears, Abnormal helix morphology, Micrognathia, Radioulnar synostosis, Short neck, Infanti...	ORPHA:798
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cavum septum pellucidum, Tetralogy of...	OMIM:619869
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Cardiomyopathy, Umbilical hernia, Polysplenia, Abnormal rib morphology, Sple...	ORPHA:373
Noonan Syndrome 3	Pectus carinatum, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Mitral valve pro...	OMIM:609942
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Recurrent respiratory infe...	OMIM:615633
Lymphatic Malformation 7	Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Varicose veins, Pericardial...	OMIM:617300
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Tooth malposition, Abnormality of the dentition, Plagiocephaly, Conducti...	ORPHA:2785
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Patent foramen ovale, Agenesis of corpus callosum, Ventricular septal defect...	ORPHA:209905
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Narrow chest, Dysgenesis of the cerebellar vermis, Disproportionate short-...	OMIM:619479
Pallister-Hall Syndrome	Hypopituitarism, Ventricular septal defect, Atrial septal defect, Anal atresia, Holoprosencephaly...	ORPHA:672
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis, Patent foramen ovale	OMIM:615156
Humero-Radial Synostosis	Microcephaly, Meningocele	ORPHA:3265
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Long philtrum, Delayed cranial suture closure, Postnatal growth retardation, Micrognat...	OMIM:619127
Kabuki Syndrome 1	Abnormal vertebral morphology, Recurrent aspiration pneumonia, Anal stenosis, Anoperineal fistula...	OMIM:147920
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Craniofacial disproportion, Micrognathia, Anterior concavity ...	OMIM:216340
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Low-set ears, Thin ribs, Thoracic hypoplasia, Long philtrum, Camptodactyly o...	OMIM:208150
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Abnormal thal...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Hemolytic anemia, Abnormal thal...	ORPHA:529808
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis, Ankle clonus	OMIM:617435
Costello Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Thick lower lip vermilion, Hypertrophic ca...	ORPHA:3071
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Gastroesophageal reflux, Patent foramen ovale, Proportionate short stature, Agenes...	OMIM:613457
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Short neck, Absent earlobe, Gen...	OMIM:264090
Ogden Syndrome	Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, ...	OMIM:300855
Marinesco-Sjogren Syndrome	Cubitus valgus, Developmental cataract, Short stature, Scoliosis, Kyphosis	OMIM:248800
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Hartsfield Syndrome	Low-set ears, Hypoplasia of the frontal bone, Growth delay, Cleft upper lip, Median cleft upper l...	OMIM:615465
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Facial diplegia, Recurrent infections due to aspiration, Atrial septal d...	ORPHA:70
Srd5A3-Cdg	Cataract, Abnormal facial shape, Abnormal sacrum morphology, Kyphosis	ORPHA:324737
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Agenesis of corpus callosum, Abnormal intestine mor...	ORPHA:1606
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Dilated cardiomyopathy, Hyperlordosis, Vertebral fusion, Scoliosis, Kyphosis	OMIM:607155
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Short stature, Growth delay, Primum atrial septal defect	OMIM:615272
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Gastroesophageal reflux, Cerebellar atrophy, Restrictive cardiomyopathy, Glo...	ORPHA:369837
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Cerebral cortical atrophy, Hypoplastic olfactory lobes, Aplasia/Hypoplasia o...	OMIM:214100
Neurocutaneous Melanocytosis	Chiari malformation, Intracranial hemorrhage, Aplasia/Hypoplasia of the cerebellum, Meningocele, ...	ORPHA:2481
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Butterfly vertebra...	OMIM:607143
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Gastroesophageal reflux, Semilobar holoprosencephaly, Downturned corners of mouth, Dental crowdin...	OMIM:301044
Acromegaly	Broad jaw, Abnormality of the dentition, Thick lower lip vermilion, Hypertrophic cardiomyopathy, ...	ORPHA:963
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Perivent...	ORPHA:544488
Filippi Syndrome	Severe short stature, Intrauterine growth retardation, Ventricular septal defect, Short stature, ...	ORPHA:3255
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Intrauterine growth retardation, Butterfly vertebrae, Short ribs, Short...	OMIM:620076
Somatomammotropinoma	Broad jaw, Abnormality of the dentition, Thick lower lip vermilion, Hypertrophic cardiomyopathy, ...	ORPHA:314769
Neu-Laxova Syndrome 2	Lissencephaly, Intrauterine growth retardation, Cerebellar hypoplasia, Microcephaly, Short neck, ...	OMIM:616038
Phace Association	Optic atrophy, Arterial stenosis, Ventricular septal defect, Cerebellar hypoplasia, Coarctation o...	OMIM:606519
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal cerebral vascular morphology, Microcephaly, Abnormality of the diencephalon, Holoprosenc...	ORPHA:2165
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Delayed cranial suture closure, Postnatal growth retardation, Persistence of prima...	ORPHA:93325
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Ventricular septal defect, Atrial septal defect, Stillbirth	OMIM:263630
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Pectus carinatum, Cervical spinal canal stenosis, Spondylolisthesis, Barrel-shaped chest, Ventric...	OMIM:178110
Kleefstra Syndrome 1	Gastroesophageal reflux, Natal tooth, Persistence of primary teeth, Conotruncal defect, Protrudin...	OMIM:610253
Brachydactyly, Type B1	Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemivertebrae, Vertebral ...	OMIM:113000
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Abnormal periventricular white matter morphology, Kyphosc...	ORPHA:1145
Trichohepatoenteric Syndrome 1	Bifid uvula, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Cholestasis, Intrauterine gr...	OMIM:222470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, ...	ORPHA:280633
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, Pulmona...	ORPHA:667
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortic roo...	OMIM:620025
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Radio-Tartaglia Syndrome	High, narrow palate, Gastroesophageal reflux, Dental crowding, Long philtrum, Wide mouth, Ventric...	OMIM:619312
Diamond-Blackfan Anemia 4	Short stature, Growth delay, Atrial septal defect	OMIM:612527
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Macroglossia, Kyphosis, Hearing impairment	OMIM:151800
Intellectual Developmental Disorder, Autosomal Recessive 65	Thin vermilion border, Smooth philtrum, Secundum atrial septal defect, Atrial septal defect	OMIM:618109
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Coronal craniosynostosis, Thin ribs, Retrognathia, Brachyturricephaly, Postnatal gr...	ORPHA:83617
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Disproportionate short stature, Abnormal scapula morphology, Pachygy...	ORPHA:93317
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C...	OMIM:614823
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Optic atrophy, Gastroesophageal reflux, Annular pancreas, Hypoplasi...	OMIM:616975
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Cerebral cortical atrophy, Lateral ventricle dilatation, Recurrent respiratory infec...	ORPHA:177907
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Gastroesophageal reflux, Reduced cerebral white matter volume, Secondary mic...	OMIM:618076
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Narrow chest, Decreased liver function, Cerebral atrophy...	OMIM:618268
Lymphangiectasia, Intestinal	Prominent floating ribs, Lymphopenia, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Sirenomelia	Sirenomelia, Anal atresia, Tracheoesophageal fistula, Spina bifida	ORPHA:3169
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Anter...	ORPHA:26793
Isolated Posterior Meningocele	Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ...	ORPHA:268810
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Micrognat...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Micrognat...	ORPHA:99228
Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Micrognat...	ORPHA:99226
Turner Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Micrognat...	ORPHA:881
Vici Syndrome	Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Long philtrum, Cleft upper l...	OMIM:242840
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b...	ORPHA:370022
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Oro...	ORPHA:3427
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Cerebral cortical atrophy, Lateral ventricle dilatation, Abnormal substanti...	ORPHA:2822
Spinocerebellar Ataxia Type 1	Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal nerve conduction velocit...	ORPHA:98755
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation, Umbilical hernia, Hypoplasia of the corpus callosum, Patent foramen...	OMIM:618914
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ...	OMIM:618775
Pyknoachondrogenesis	Low-set ears, Craniofacial hyperostosis, Unossified sacrum, Horizontal ribs, Poorly ossified vert...	ORPHA:3003
Donnai-Barrow Syndrome	Umbilical hernia, Intestinal malrotation, Aplasia/Hypoplasia of the corpus callosum, Agenesis of ...	OMIM:222448
Ebstein Malformation Of The Tricuspid Valve	Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card...	ORPHA:1880
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, High palate	OMIM:618798
Kindler Epidermolysis Bullosa	Carious teeth, Periodontitis, Camptodactyly of finger, Abnormal dental enamel morphology, Prematu...	ORPHA:2908
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Ramos-Arroyo Syndrome	Severe short stature, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Agan...	ORPHA:1051
Hyperparathyroidism, Transient Neonatal	Thin ribs, Fractured rib, Gastroesophageal reflux, Narrow chest, Umbilical hernia, Undulate ribs,...	OMIM:618188
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Aortic root aneurysm, Cerebral atrophy, Intrauterine growth retardation, Subm...	OMIM:618891
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Platyspondyly, Abnormal sternum morphology, Thoracic platyspondyly, Patent foramen ovale, Hypopla...	ORPHA:457395
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Lymphopenia, Intrauterine growth retardation, Patent ductus arterio...	OMIM:618460
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Cerebellar atrophy, Secundum atrial septal defect, Partial atrioventricular...	OMIM:620066
Gangliocytoma	Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Abn...	ORPHA:251937
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Ventricular septal defect, Short ribs, P...	OMIM:615503
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Abnormal mitral valve morphology, Short hard palate, Genu varum, Short s...	ORPHA:1969
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Craniopharyngioma	Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Postnatal growth r...	ORPHA:54595
C Syndrome	Fused sternal ossification centers, Ventricular septal defect, Hepatomegaly, Microcephaly, Short ...	OMIM:211750
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Intellectual Developmental Disorder, Autosomal Dominant 57	Narrow mouth, Otitis media, Thin upper lip vermilion, Posteriorly rotated ears, Long face, Contra...	OMIM:618050
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Knee flexion contracture, Absent uvula, Dolichocephaly, Kyphosis	OMIM:619708
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Severe short stature, Narrow chest, Disproportionate short stature, Rhizomelia, He...	OMIM:616482
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Disproportionate short stature, Lumbar hyperlordosis, Cupped ribs, Beaking of vert...	OMIM:609616
Parkes Weber Syndrome	Arteriovenous malformation, Myelopathy, Vascular tortuosity, Venous malformation, Spinal arteriov...	ORPHA:90307
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Short stature	ORPHA:281090
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Pectus carinatum, Kyphosis	ORPHA:500180
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Cardiomyopathy, Furrowed tongue, Intrauterine grow...	ORPHA:769
Trichothiodystrophy	High, narrow palate, Diffuse cerebellar atrophy, Cerebral cortical atrophy, Increased mean corpus...	ORPHA:33364
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Kyphosis, Wrist swelling, Camptodactyly of finger, ...	OMIM:309000
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Horizontal ribs, Short ribs, Short stature, Lateral clavicle hook	OMIM:617405
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Atrial septal defect, Short st...	ORPHA:85201
Woods Syndrome	Thin vermilion border, Ventricular septal defect	OMIM:615236
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Pseudobulbar paralysis, Abnormal left ventricle mor...	ORPHA:466791
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Intrauterine growth retardation, T...	OMIM:608670
Cardiospondylocarpofacial Syndrome	Gastroesophageal reflux, Muscular ventricular septal defect, Herniation of intervertebral nuclei,...	OMIM:157800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morph...	ORPHA:391487
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Ventricular septal ...	OMIM:619103
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Lateral ventricle dilatation, Secondary microcephaly, Enlarged cerebellum,...	ORPHA:261537
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Wide mouth, Ventricular septal defect, Solitary median maxillary...	ORPHA:217346
Intellectual Developmental Disorder, Autosomal Recessive 72	Thin upper lip vermilion, Secundum atrial septal defect, Long philtrum	OMIM:618665
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia,...	OMIM:619476
Atypical Rett Syndrome	Scoliosis, Kyphosis, Growth delay	ORPHA:3095
Aspartylglucosaminuria	Platyspondyly, Cataract, Spondylolysis, Thick lower lip vermilion, Wide mouth, Broad face, Spondy...	OMIM:208400
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Zellweger Syndrome	Optic atrophy, Hepatic failure, Polymicrogyria, Ventricular septal defect, Hepatomegaly, Microcep...	ORPHA:912
Nail-Patella Syndrome	Lumbar hyperlordosis, Glenoid fossa hypoplasia, Hypoplasia of first ribs, Thickening of the later...	OMIM:161200
Mycophenolate Mofetil Embryopathy	Tessier cleft, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fistula, Orofac...	ORPHA:268249
Degcags Syndrome	Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Protruding tongue, Agen...	OMIM:619488
Restrictive Dermopathy 1	Intrauterine growth retardation, Hydropic placenta, Increased anterioposterior diameter of thorax...	OMIM:275210
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Short stature, Macroglossia, Growth delay, Atrial septal defect	ORPHA:93947
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Meningocele, Glossoptosis	ORPHA:2031
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Kaposi Sarcoma	Abnormal lung morphology, Abnormality of the gastrointestinal tract, Venous insufficiency	ORPHA:33276
Proboscis Lateralis	Abnormality of the maxillary sinus, Microcornea, Abnormal facial skeleton morphology, Cataract, L...	ORPHA:141099
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cerebral cortical atrophy, Intrauterine growth retardation, Ventricular septal defect, Chiari typ...	ORPHA:166035
Den Hoed-De Boer-Voisin Syndrome	Gastroesophageal reflux, Global brain atrophy, Lateral ventricle dilatation, Secondary microcepha...	OMIM:619229
Chromosome 17P13.1 Deletion Syndrome	Plagiocephaly, Umbilical hernia, Turricephaly, Microcephaly, Brachycephaly, Short neck, Hydroceph...	OMIM:613776
Histiocytoid Cardiomyopathy	Optic atrophy, Cerebellar malformation, Stroke-like episode, Agenesis of corpus callosum, Pulmona...	ORPHA:137675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary m...	ORPHA:261552
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Gastroesophageal reflux, Xerostomia, Hypothalamic luteinizing hormone-rele...	ORPHA:398069
3Q29 Microduplication Syndrome	Abnormality of the dentition, Ventricular septal defect, Ectopic anus, Deep philtrum, High palate...	ORPHA:251038
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Severe short stature	ORPHA:3344
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Cataract, Biconcave vertebral bodies, Ventricular septal defect, Kyphoscoliosis, B...	OMIM:259770
Pseudoaminopterin Syndrome	Sacrococcygeal pilonidal abnormality, Patent foramen ovale, Prominent sternum, Hydrocephalus, Sho...	ORPHA:221120
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Secundum atrial septal defect	ORPHA:96190
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Gastroesophageal reflux, Increased circulating prolac...	ORPHA:438213
Paget Disease Of Bone 5, Juvenile-Onset	Hearing impairment, Barrel-shaped chest, Sensorineural hearing impairment, Thickened calvaria, Sh...	OMIM:239000
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Coarse facial features, Kyphosis, Widely spaced teeth	OMIM:300942
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Narrow face, Persistent open ante...	OMIM:304150
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Patent foramen ovale, Short philtrum, Bicuspid aortic valve...	OMIM:617137
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Von Willebrand Disease	Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Abnormal mitral valve morphology, V...	ORPHA:903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Elbow flexion contracture, Kyphosis	OMIM:618138
Cornelia De Lange Syndrome 1	High, narrow palate, Optic atrophy, Pneumonia, Gastroesophageal reflux, Optic disc coloboma, Intr...	OMIM:122470
Yunis-Varon Syndrome	Postnatal growth retardation, Agenesis of corpus callosum, Ventricular septal defect, Atrial sept...	ORPHA:3472
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:614582
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Short stature, Atrial septal defect	OMIM:619115
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Recurrent pneumonia, Lateral ventricle dilatation, Optic nerve compression, Spleno...	OMIM:612301
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Polymicrogyria, Tetralogy of Fallot, Hypoplasia of first ribs, Vent...	OMIM:154400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Mitral valve prolapse, Hia...	OMIM:601776
Prader-Willi Syndrome	Carious teeth, Downturned corners of mouth, Intrauterine growth retardation, Genu valgum, Thin up...	OMIM:176270
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Long philtrum, Ventricular septal defect, Short philtrum, Tricuspid valve prol...	ORPHA:261337
Mowat-Wilson Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular septal defect, Atrial...	OMIM:235730
Foix-Alajouanine Syndrome	Cervical myelopathy, Venous malformation, Myelopathy, Arteriovenous fistula	ORPHA:79093
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Branchial cyst, Optic disc coloboma, Ankyloglossia, Intraut...	OMIM:620186
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Wilson Disease	Hepatic failure, Portal fibrosis, Acute hepatic failure, Decreased nerve conduction velocity, Fac...	OMIM:277900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Cerebral cortical atrophy, Global brain atrophy, Hypoplasia of the corpus callosum, Microcephaly,...	ORPHA:457351
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Gastroesophageal reflux, Scoliosis, Lateral ventricle dilatation, Abnormal h...	OMIM:615873
21Q22.11Q22.12 Microdeletion Syndrome	Dental crowding, Downturned corners of mouth, Thick lower lip vermilion, Postnatal growth retarda...	ORPHA:261323
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Cleft lip, Myofiber disarray, Patent foramen ovale, Ventricular septal de...	OMIM:620519
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Sacral Defect With Anterior Meningocele	Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ...	OMIM:600145
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Polymicrogyria, Intestinal malrotation, Hemimegalen...	OMIM:601707
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri...	OMIM:618748
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Vascular dilatation, Ventricular septal defect	OMIM:219730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Abnormal earlobe morphology, N...	ORPHA:95699
Pancreatic And Cerebellar Agenesis	Pectus carinatum, Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia, Cereb...	OMIM:609069
Campomelia, Cumming Type	Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal intestine morphology, Abnorma...	ORPHA:1318
Pelizaeus-Merzbacher Disease	Short stature, Scoliosis, Kyphosis, Hearing impairment	ORPHA:702
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Stroke, Sinus venosus ...	ORPHA:1478
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Enamel hypopl...	OMIM:164200
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Abnormal sternum morphology, Mitral valve prolapse, High palate, Scoliosis, ...	OMIM:177850
Axenfeld-Rieger Syndrome, Type 3	Hypodontia, Patent ductus arteriosus, Atrial septal defect, Microdontia	OMIM:602482
Proteus Syndrome	Low-set ears, Rib exostoses, Carious teeth, Open mouth, Round face, Calvarial hyperostosis, Hip d...	ORPHA:744
Mowat-Wilson Syndrome	Aortic valve stenosis, Enlarged cerebellum, Hypoplasia of the corpus callosum, Agenesis of corpus...	ORPHA:2152
Cardiomyopathy, Familial Hypertrophic, 11	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri...	OMIM:612098
Pontine Tegmental Cap Dysplasia	Hypoplasia of the corpus callosum, Rib fusion, Pontine tegmental cap, Dysphagia, Hemivertebrae, F...	OMIM:614688
Aica-Ribosiduria Due To Atic Deficiency	Thin upper lip vermilion, Wide mouth, Secundum atrial septal defect	OMIM:608688
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Joubert Syndrome 5	Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi...	OMIM:610188
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Abnormality of the dentition, Thick lower lip vermilion, Intr...	OMIM:617557
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Abnormal mesentery morphology, Ventricular septal defect	ORPHA:2256
Spondyloocular Syndrome	Platyspondyly, Pectus carinatum, Mitral valve prolapse, Atrial septal defect, Shield chest, Dyspl...	OMIM:605822
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis, Scapular winging	OMIM:181405
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Cerebral cortical atrophy, Ventricular septal defect, Microcephaly, Partial agenes...	OMIM:234050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Severe short stature, Bifid uvula, Atrioventricular canal defect, Submucous cleft hard palate, Ve...	ORPHA:3047
Teebi-Shaltout Syndrome	High, narrow palate, Aortic valve stenosis, Prominent palatine ridges, Narrow mouth, Ventricular ...	OMIM:272950
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Asplenia, Anemia	ORPHA:3204
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Hearing impairment, Brachycephaly, Abnormal facial shape, Short stature, Scoliosis...	ORPHA:500055
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Pulmonary venous occlusion, P...	ORPHA:2260
Cono-Spondylar Dysplasia	Low-set ears, Abnormal facial shape, Short neck, Scoliosis, Kyphosis	ORPHA:420794
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Atrial septal defect, Long philtrum	OMIM:207410
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Global brain atrophy, Decreased response to growth hormone stimulation test,...	ORPHA:488632
Fanconi Anemia, Complementation Group N	Aplastic anemia, Postnatal growth retardation, Ventricular septal defect, Microcephaly, Short nec...	OMIM:610832
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis	OMIM:271520
Phocomelia, Schinzel Type	High, narrow palate, Disproportionate short stature, Intrauterine growth retardation, Tracheoesop...	ORPHA:2879
Distal 16P11.2 Microdeletion Syndrome	Narrow mouth, Kyphosis, Oval face	ORPHA:261222
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Gastroesophageal reflux, Elevated circulating hepatic transaminas...	OMIM:619525
Intellectual Developmental Disorder, Autosomal Recessive 71	Increased overbite, Ventricular septal defect	OMIM:618504
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Cerebellar cyst, Horizontal rib...	OMIM:613091
Neurofibromatosis, Type I	Neurofibroma, Pheochromocytoma, Renal artery stenosis, Plexiform neurofibroma, Spina bifida, Hydr...	OMIM:162200
Monosomy 13Q34	Hematochezia, Hepatic steatosis, Agenesis of corpus callosum, Microcephaly, Common atrium, Growth...	ORPHA:96168
Arboleda-Tham Syndrome	Optic atrophy, Recurrent aspiration pneumonia, Gastroesophageal reflux, Growth delay, Secundum at...	OMIM:616268
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Joint contracture of the hand, Hearing impairment, Recurrent oti...	OMIM:309800
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Ventricular septal defect	OMIM:616901
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Short neck, Pineal ...	OMIM:600268
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Wide mouth, Ventricular septal defect, Gastrointestinal dysmotility, Grow...	OMIM:617798
Knobloch Syndrome 1	Cerebellar atrophy, Occipital encephalocele, Cerebral atrophy, Polymicrogyria, Peripapillary atro...	OMIM:267750
Bdv Syndrome	Delayed puberty, Atrial septal defect	OMIM:619326
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Splenomegaly, Flaring of rib cage, Neutrophilia, Hepatomegaly, Pulmonary fibrosis, Fu...	OMIM:612852
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv...	ORPHA:99094
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Ectopic anterior pituitary gland, Sandwich appearance of vertebral bodies, Hypoplasia of the corp...	OMIM:620558
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Cerebellar atrophy, Abnormal brainstem morphology, Intrauterine growth retar...	OMIM:301310
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypoplasia of the corpus callosum, Thoracolumbar scoliosis, Atrial septal defect, High palate, An...	ORPHA:480880
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pectus carinatum, Cataract, Dental crowding, Ectopia lentis, Genu valgum, Pectus excavatum, High ...	ORPHA:394
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Thin upper lip vermilion, Deep...	OMIM:613884
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Gastroesophageal reflux, Aortic root aneurysm, Aspiration pneumoni...	ORPHA:444077
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Jejunoileal ulceration, Hepatitis, ...	ORPHA:436252
Distal Deletion 12Q	High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Pituitary adenoma, A...	ORPHA:96149
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Platyspondyly, Abnormal vertebral morphology, Severe short stature, Keratitis, Abnormality of the...	ORPHA:2273
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Facial diplegia, Facial palsy, Dysphagia, Pulmonary hypopl...	ORPHA:171430
Oculodentodigital Dysplasia	Optic atrophy, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical her...	ORPHA:2710
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Disproportionate short-limb short stature, Thoracic hypoplasia, Bell-sh...	OMIM:166210
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Recurrent pneumonia, Acute myelomonocytic leukemia, Secundum atrial septal defect,...	ORPHA:99646
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Abnormal brainstem morphology, Hydroce...	ORPHA:8
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu...	ORPHA:93311
Rett Syndrome	Short stature, Abnormality of the dentition, Scoliosis, Kyphosis	OMIM:312750
X Small Rings	Aortic root aneurysm, Long philtrum, Mitral stenosis, Ventricular septal defect, Thin upper lip v...	ORPHA:96201
Lymphatic Malformation 13	Long philtrum, Patent foramen ovale, Neonatal death, Smooth philtrum, Atrial septal defect, Paten...	OMIM:620244
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Advanced eruptio...	ORPHA:1519
Fibular Hemimelia	Abnormal heart morphology, Thrombocytopenia, Spina bifida, Thoracoabdominal wall defect	ORPHA:93323
Alkaptonuria	Aortic valve calcification, Brown pigmentation of the conjunctiva, Intervertebral disk degenerati...	OMIM:203500
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Rhizomelia, Disproportionate short stature, Narrow chest, 11 pairs of ribs, Short ...	OMIM:250220
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Gastroesophagea...	ORPHA:363611
Schinzel-Giedion Midface Retraction Syndrome	Cerebral atrophy, Postnatal growth retardation, Broad ribs, Hypoplasia of first ribs, Hypoplasia ...	OMIM:269150
Distal Deletion 6P	Abnormality of the dentition, Downturned corners of mouth, Smooth philtrum, Orofacial cleft, Atri...	ORPHA:96125
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Flexion contracture of finger, Scoliosis, Kyphosis	ORPHA:88628
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Brown-Vialetto-Van Laere Syndrome 1	Hearing impairment, Ankle clonus, Sensorineural hearing impairment, Scoliosis, Tongue atrophy, Ky...	OMIM:211530
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat...	OMIM:300990
Proteus-Like Syndrome	Bronchogenic cyst, Open bite, Venous insufficiency, Hydrocephalus, Communicating hydrocephalus	ORPHA:2969
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Gastroesophageal reflux, Dilatation of the ventricular cavity, Ventricular septal defect, Cerebel...	ORPHA:459070
Ablepharon-Macrostomia Syndrome	Low-set ears, Microtia, first degree, Microtia, third degree, Hypoplasia of the zygomatic bone, H...	OMIM:200110
Stuve-Wiedemann Syndrome 1	Thin ribs, Smooth tongue, Intrauterine growth retardation, Short neck, Abnormal autonomic nervous...	OMIM:601559
Ulnar-Mammary Syndrome	Ventricular septal defect, Hypodontia, Ectopic anus, Delayed puberty, Short stature, Anal atresia...	ORPHA:3138
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Angioosteohypotrophic Syndrome	Venous malformation, Prominent superficial veins	ORPHA:75508
Ring Chromosome 12 Syndrome	High, narrow palate, Secundum atrial septal defect, Lumbar hyperlordosis, Microcephaly, Pectus ex...	ORPHA:1439
Alstrom Syndrome	Abnormality of the dentition, Dilated cardiomyopathy, Progressive sensorineural hearing impairmen...	OMIM:203800
Cloacal Exstrophy	Intestinal duplication, Intestinal malrotation, Myelomeningocele, Spina bifida, Anal atresia	ORPHA:93929
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Kyphosis, Wormian bones, Hyperlordosis, Scoliosis, Hip dislocation	OMIM:617821
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Horizontal ribs, Short...	OMIM:208500
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Cerebellar vermis hypoplasia, Ankyloglossia, Intrauterine growth retarda...	OMIM:619841
Sotos Syndrome	Abnormal vertebral morphology, Hearing impairment, Hip contracture, Ventricular septal defect, At...	ORPHA:821
Townes-Brocks Syndrome	Abnormal vertebral morphology, Chiari malformation, Anteriorly placed anus, Abnormal rib morpholo...	ORPHA:857
Gjc2-Related Late-Onset Primary Lymphedema	Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins...	ORPHA:568051
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Ankyloglossia, Genu valgum, Ventricular septal defect, Bicuspid aortic valve,...	OMIM:619475
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Abnormal sternum morphology, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Vent...	OMIM:607721
Congenital Disorder Of Glycosylation, Type Iim	Gastroesophageal reflux, Intrauterine growth retardation, Open mouth, Exaggerated cupid's bow, Sh...	OMIM:300896
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis, Ankle clonus	OMIM:609541
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Chiari malformation, Velopharyngeal insufficiency, Elevated circulating ...	OMIM:619325
Lumbar Syndrome	Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida	ORPHA:83628
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Intrauterine growth retardation, Open mouth, Ventricular septal defect, ...	OMIM:614653
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Gastroesophageal reflux, Patent foramen ovale	ORPHA:542306
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Usual interstitial pneumonia, Gastric varix, Esophageal varix, Pulmonary fibrosis	OMIM:620367
Omodysplasia 1	Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Ventricular septal defec...	OMIM:258315
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Protruding ear, Scoliosis, Kyphosis	OMIM:613454
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, High palate, Atelectasis, Neonatal death	OMIM:300219
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growt...	OMIM:610505
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency	ORPHA:624
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Leukemia, Intrauterine growth retardation, Pancytopenia, Ventricular...	OMIM:227645
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Abnormal right ventricle morphology, Thick vermilion border, Mitral valve prolapse,...	ORPHA:500095
Thoracic Outlet Syndrome	Abnormal rib morphology, Varicose veins	ORPHA:97330
Chromosome 16P13.3 Duplication Syndrome	Bifid uvula, Tetralogy of Fallot, Cervical C5/C6 vertebrae fusion, Periventricular leukomalacia, ...	OMIM:613458
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect	ORPHA:369929
Menkes Disease	Gastrointestinal hemorrhage, Umbilical hernia, Intrauterine growth retardation, Arterial stenosis...	ORPHA:565
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis	ORPHA:85193
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent upper respiratory tract infections, Chiari malformation, Umbilical hernia, Butterfly ve...	OMIM:308205
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Abnormal scapula morphology, Hydrocephalus, Asplenia, Anal atresia,...	OMIM:273395
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Venous malformation	OMIM:612918
Orofaciodigital Syndrome Xvi	Hamartoma of tongue, Molar tooth sign on MRI	OMIM:617563
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Venous insufficiency	ORPHA:137608
Johanson-Blizzard Syndrome	Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se...	OMIM:243800
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ...	ORPHA:2729
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Thin upper lip vermilion, Pericardial effusion, Kyphosis, Macrotia, Pericarditis	OMIM:212065
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Undulate ribs, Short clavicles, Microcephaly, Short neck...	OMIM:609945
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Shprintzen Omphalocele Syndrome	Narrow chest, Lumbar hyperlordosis, Abnormal facial shape, Short stature, Thin vermilion border, ...	OMIM:182210
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Gastroesophageal reflux, Volvulus, Intestinal malrotation, Ventricular septal defect, Hiatus hern...	OMIM:616682
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Scoliosis, Anteriorly placed anus, Agenesis of corpus ...	OMIM:606170
Sillence Syndrome	Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Oval face, Flat a...	ORPHA:3168
Phakomatosis Pigmentokeratotica	Pheochromocytoma, Scoliosis, Spina bifida	ORPHA:2874
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Long ear, Humeroradial synostosis, Barrel-shaped chest, Short neck, Elbow ankylosis...	OMIM:276820
Vascular Ehlers-Danlos Syndrome	Carious teeth, Periodontitis, Narrow mouth, Mitral valve prolapse, Abnormal intestine morphology,...	ORPHA:286
Milroy Disease	Abnormal venous morphology, Varicose veins	ORPHA:79452
Postencephalitic Parkinsonism	Camptocormia, Open mouth, Kyphosis	ORPHA:97349
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Cornelia De Lange Syndrome	Gastroesophageal reflux, Volvulus, Downturned corners of mouth, Widely spaced teeth, Intestinal m...	ORPHA:199
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi...	ORPHA:402075
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Dilatation of the cerebral ...	OMIM:130050
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Polymicrogyria, Abnormal brainstem morphology, Hypoplasia of the co...	ORPHA:370997
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Narrow face, Chondrocalcinosis, Neoplasm of th...	ORPHA:79474
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal...	OMIM:615474
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia...	OMIM:612528
3Q29 Microdeletion Syndrome	Microcephaly, Six lumbar vertebrae, Macrocephaly	ORPHA:65286
Renal Agenesis	Anal atresia, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Neurofibroma, Pectus excavatum of inferior sternum, Plexiform neur...	OMIM:601321
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Optic atrophy, Broad ribs, Optic nerve compression, Increased intervertebral space...	OMIM:619727
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy, Microcephaly, Abnormal ...	OMIM:614947
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Anteriorly placed anus, Hypoplasia of the corpus callosum, Patent foramen ovale,...	OMIM:618653
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Thick lower lip vermilion, Hyperlordosis, Pectus excavatum, High palate, Sco...	OMIM:162300
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis, Ankle clonus	ORPHA:88644
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Dental c...	ORPHA:285
Xylt1-Cdg	Broad ribs, Short clavicles, Hepatomegaly, Microcephaly, Short stature, Growth delay, Cleft palate	ORPHA:370930
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Long philtrum, Emphysema, Ventricular septal defect, Bronch...	OMIM:123700
Penile Agenesis	Bilateral lung agenesis, Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Rect...	ORPHA:49
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Lumbar hyperlordosis, Atrial septal defect, Scoliosis, Hemiballismus	ORPHA:522077
Cowden Syndrome	Cataract, Hearing impairment, Furrowed tongue, Conjunctival hamartoma, Pectus excavatum, Short st...	ORPHA:201
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Eisenmenger Syndrome	Bacterial endocarditis, Increased mean corpuscular volume, Tetralogy of Fallot, Abnormal heart mo...	ORPHA:97214
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Umbilical hernia, Broad ribs, Hepatosplenomegaly, Cholecystitis, Hyperlordosis, H...	OMIM:301066
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Hearing impairment, Lumbar hyperlordosis, Thin upper lip vermilion, Contracture of the proximal i...	ORPHA:2232
Diphallia	Gastrointestinal duplication, Duplicated colon, Abnormal heart morphology, Abnormality of the gas...	ORPHA:227
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Umbilical hernia, Tetralogy of Fallot, Ventricular septal...	OMIM:107480
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Peripheral axonal neuropathy, Pyloric stenosis	ORPHA:169189
Oeis Complex	Absence of the sacrum, Chiari malformation, Anteriorly placed anus, Duplicated colon, Intestinal ...	OMIM:258040
Alexander Disease	Large face, Frontal bossing, Short neck, Hyperlordosis, High palate, Scoliosis, Kyphosis	ORPHA:58
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Vertebral segmentation defect, Atrial septal defect, Verte...	ORPHA:3109
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret...	OMIM:615550
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Occipital Horn Syndrome	Synostosis of joints, Platyspondyly, High, narrow palate, Pectus carinatum, Kyphosis, Narrow ches...	ORPHA:198
Acth-Independent Macronodular Adrenal Hyperplasia	Round face, Kyphosis	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Round face, Kyphosis	OMIM:610475
Early Infantile Epileptic Encephalopathy	Diffuse white matter abnormalities, Cerebellar atrophy, Umbilical hernia, Hypoplasia of the corpu...	ORPHA:1934
Glomuvenous Malformation	Oral mucosa nodule, Venous malformation, Arteriovenous malformation, Gastrointestinal arterioveno...	ORPHA:83454
Diamond-Blackfan Anemia 21	Short stature, Secundum atrial septal defect, Narrow mouth	OMIM:620072
Pallister-Killian Syndrome	Aortic valve stenosis, Secondary microcephaly, Hypoplasia of the corpus callosum, Ventricular sep...	OMIM:601803
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Mitral valve prolapse, Ventricular septal defect, Thick vermilion border, Macrogl...	OMIM:617107
Exstrophy-Epispadias Complex	Anal stenosis, Abnormal heart morphology, Abnormality of the gastrointestinal tract, Spina bifida...	ORPHA:322
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Optic atrophy, Chylothorax, Pleural effusion, Microcephaly, Atrial septal d...	ORPHA:2526
17Q11 Microdeletion Syndrome	Low-set ears, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Abnormal h...	ORPHA:97685
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short stature, Thick vermilion border, Ventricular septal defect	OMIM:250410
Acrocapitofemoral Dysplasia	Pectus carinatum, Narrow chest, Disproportionate short stature, Disproportionate short-limb short...	OMIM:607778
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Capillary malformation of the lip, Venous malformation, Varicose veins	OMIM:613089
Gabriele-De Vries Syndrome	Abnormality of the dentition, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Intrauterine ...	ORPHA:506358
Lethal Congenital Contracture Syndrome 5	Thin ribs, Decreased nerve conduction velocity, Subdural hemorrhage	OMIM:615368
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Cerebellar vermis hypoplasia, Recurrent pneumonia, Umbilical hernia, Recurrent bronc...	OMIM:620330
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Cerebral calcificat...	OMIM:245150
Pituitary Adenoma 4, Acth-Secreting	Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies	OMIM:219090
Livedoid Vasculopathy	Abnormal capillary morphology, Ischemic stroke, Venous insufficiency, Varicose veins	ORPHA:542643
Hand-Foot-Genital Syndrome	Sacral dimple, Ventricular septal defect	ORPHA:2438
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Platyspondyly, Rhizomelia, Cupped ribs, Scoliosis, Ovoid vertebral bodies	ORPHA:85167
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Cerebellar vermis hypoplasia, Secundum atrial septal defect, Hypoplasia of the pons, Microcephaly...	OMIM:620455
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Growth delay, Downturned corners of mouth, Intrauterine growth retardation, Ventri...	OMIM:619522
Bardet-Biedl Syndrome 20	Papilledema, Pancreatitis, Atrial septal defect, Elevated circulating hepatic transaminase concen...	OMIM:619471
Pigmented Nodular Adrenocortical Disease, Primary, 1	Round face, Kyphosis	OMIM:610489
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Enlarged cerebellum, Hypoplasia of the corpus callosum, Patent foramen ovale, Colpocephaly, Cereb...	ORPHA:477993
Clapo Syndrome	Capillary malformation of the lip, Venous malformation, Varicose veins	ORPHA:168984
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon, Poorly formed metencephalon	OMIM:601374
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Kyphosis	OMIM:106300
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc...	ORPHA:512
Norrie Disease	Optic atrophy, Cerebral cortical atrophy, Venous insufficiency, Microcephaly, Aplasia/Hypoplasia ...	ORPHA:649
Hypothyroidism, Congenital, Nongoitrous, 5	Growth delay, Patent foramen ovale	OMIM:225250
Neurofibromatosis Type 1	Cataract, Hearing impairment, Genu valgum, Heterochromia iridis, Lisch nodules, Delayed puberty, ...	ORPHA:636
Neuroocular Syndrome 1	Short uvula, Downturned corners of mouth, Umbilical hernia, Widely spaced teeth, Ankyloglossia, S...	OMIM:619539
Fragile X-Associated Tremor/Ataxia Syndrome	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Abnormal brainstem morphology, Abnormal au...	ORPHA:93256
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Gastrointestinal hemorrhage, Recurrent pneumonia...	OMIM:225400
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anal stenosis, Hypoplastic scapulae, Ventricular septal defect, Shor...	OMIM:181450
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Postnatal growth retardation, Bicuspid aortic valve, Microcephaly,...	OMIM:613355
Alström Syndrome	Cataract, Posterior subcapsular cataract, Dilated cardiomyopathy, Progressive sensorineural heari...	ORPHA:64
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormal venous morphology	ORPHA:276280
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Astigmatism, Scoliosis, Kyphosis	OMIM:619482
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Ankle clonus	ORPHA:171629
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061

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 Zic3

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 Zic3.

No publications found that use IMPC mice or data for Zic3.

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
Zic3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zic3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Zic3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Zic3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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