| Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear |
ORPHA:3230 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Right aortic arch, Ventricular septal defect, Cleft palate, Double outlet right ven... |
OMIM:231060 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... |
OMIM:619274 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... |
ORPHA:860 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Protruding ear, Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Overri... |
ORPHA:3304 |
| Heart And Brain Malformation Syndrome |
|
Low-set ears, Camptodactyly of finger, Prominent metopic ridge, Attached earlobe, Ventricular sep... |
OMIM:616920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Deafness, Autosomal Dominant 9 |
|
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... |
OMIM:601369 |
| Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment, Aplasia/H... |
ORPHA:231169 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Cerebellar dysplasia, Hydrocephalus, Ventriculomegaly, C... |
OMIM:604213 |
| Gómez-López-Hernández Syndrome |
|
Low-set ears, Hydrocephalus, Abnormal brainstem morphology, Abnormal cerebellum morphology, Cereb... |
ORPHA:1532 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal pinna morphology, Aortic aneurysm, Ventricular septal defect, Atrial septal defect, Decr... |
ORPHA:477817 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti... |
OMIM:300614 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Widely spaced teeth, Cleft palate, Recurrent otitis... |
OMIM:617616 |
| Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
| Chromosome Xq21 Deletion Syndrome |
|
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... |
OMIM:303110 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Interrupted aortic arch, ... |
ORPHA:1727 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal de... |
OMIM:617478 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect, Carpal synostosis, Musc... |
OMIM:157800 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, High palate, Conductive hearing impairment, Pulmonic stenosis, Posteriorly rotated ... |
OMIM:617877 |
| Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:90646 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Cochlear malformation, Mixed hearing impairment, Branchial fistula, Cupped ear, Sen... |
OMIM:602588 |
| Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, In... |
OMIM:616749 |
| Aorta Coarctation |
|
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... |
ORPHA:1457 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Genu varum, Arteriovenous malformation, Abnormal aortic arch m... |
ORPHA:1110 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Atrial septal defe... |
ORPHA:1209 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Coarctation of aorta, Interrupted aortic arch |
OMIM:107550 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... |
OMIM:606217 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Low-set ears, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Overriding aorta, Thin upper lip vermilion, Pate... |
OMIM:601927 |
| Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Low-set ears, Abnormality of the dentition, Pulmonic stenosis, Tetralogy of Fallot... |
OMIM:179613 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly |
OMIM:617127 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Congenitally corrected transposition of the great arteries, Right aortic ... |
OMIM:618300 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Right aortic arch,... |
OMIM:613854 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Pendred Syndrome |
|
Enlarged vestibular aqueduct, Abnormality of the inner ear, Vertigo, Hypoplasia of the cochlea, S... |
ORPHA:705 |
| Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Open mouth, Abnormality of the ear, Right aortic arch with mirror image... |
OMIM:192430 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morpho... |
ORPHA:280195 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Low-set ears, Coarctation of aorta, Atrial septal defect, Ventricu... |
OMIM:600987 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Holoprosencephaly, Aplasia/... |
ORPHA:990 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Molar tooth sign on MRI, Anencephaly, Hydrocephalus |
OMIM:614120 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Ventriculomegaly, Superior cerebellar dysplasia, Molar tooth sign on M... |
OMIM:617622 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Glossopharyngeal Neuralgia |
|
Ear pain, Abnormal palate morphology, Chiari type I malformation, Tongue pain, Cranial nerve comp... |
ORPHA:221098 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Vertebral fusion, Hypoplastic... |
OMIM:618845 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hydrocephalus |
OMIM:619111 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Right aor... |
ORPHA:2326 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Hearing impairment, Cerebellar hypoplasia, Optic at... |
ORPHA:207 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Abnormality of cartilage of external ear, Hypopla... |
ORPHA:3426 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Camptodactyly, Short neck, Protein-losing enteropathy, Perimembranous ventricular s... |
OMIM:608104 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
| Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Occipital encephalocele, Dandy-Walker malformation, Anencephaly, Cereb... |
OMIM:614175 |
| Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventr... |
OMIM:220210 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septal defect, ... |
OMIM:265380 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Low-set ears, Intestinal malrotation, Tetralogy of Fallot, Ventricular ... |
OMIM:618316 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Cerebral hemorrhage, Right aortic arch, Abnormal left ventricle morphology, Prematu... |
OMIM:300845 |
| Truncus Arteriosus |
|
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... |
ORPHA:3384 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Sensorineural hearing impairment |
OMIM:618763 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... |
ORPHA:99050 |
| Apert Syndrome |
|
Chronic otitis media, Bifid uvula, Ventricular septal defect, Cleft palate, Hearing impairment, N... |
OMIM:101200 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Hearing impairment |
OMIM:617577 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Macroglossia, Low-set ears, Torticollis, High palate, Short neck, Ventricular septal ... |
OMIM:617022 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta, Conductive hearing impai... |
ORPHA:2876 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Camptodactyly, Anal atresia, Abnormality of the dentition, Atrial septal defect, Perimembranous v... |
ORPHA:363444 |
| Bor Syndrome |
|
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... |
ORPHA:107 |
| Meacham Syndrome |
|
Death in childhood, Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch... |
OMIM:608978 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... |
OMIM:611584 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Low-set ears, Agenesis of cerebellar vermis, Hydrocephalus, Posteriorly rotated ears, Abnormal br... |
ORPHA:163961 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Pulmonic stenosis, Absence of t... |
OMIM:618780 |
| Apert Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Morphological abnormality of the semicircular canal... |
ORPHA:87 |
| Distal Duplication 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus, Hearing impairment |
ORPHA:1705 |
| Alg3-Cdg |
|
Macroglossia, High palate, Coarctation of the descending aortic arch, Abnormal pinna morphology, ... |
ORPHA:79321 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term |
OMIM:618782 |
| Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Cleft lip, Abnormal fifth cranial nerve morphology, Abnormal heart morph... |
ORPHA:91412 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... |
ORPHA:50815 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Snijders Blok-Campeau Syndrome |
|
Low-set ears, High palate, Pulmonic stenosis, Atrial septal defect, Umbilical hernia, Widely spac... |
OMIM:618205 |
| Chromosome 9P Deletion Syndrome |
|
Prominent antihelix, Low-set ears, High palate, Short neck, Ventricular septal defect, Atrial sep... |
OMIM:158170 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... |
OMIM:611134 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Ventricular septal defect, Hypoplastic aortic arch, Left superior vena ca... |
OMIM:306955 |
| Sandestig-Stefanova Syndrome |
|
Low-set ears, Camptodactyly, Prominent metopic ridge, Angulated antihelix, Underdeveloped tragus,... |
OMIM:618804 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Posteriorly rotated ears, Intracr... |
ORPHA:163979 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... |
ORPHA:52368 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormality of the pulmonary veins, Aplasia/Hypoplasia of the inner ear, Hydr... |
ORPHA:2306 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Cerebellar vermis... |
OMIM:609583 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent otitis media |
OMIM:618254 |
| Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Interrupted aortic arc... |
OMIM:300712 |
| Charge Syndrome |
|
Abnormal soft palate morphology, Tetralogy of Fallot, Interrupted aortic arch, Hearing impairment... |
ORPHA:138 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Atrial septal defect, Hypoplas... |
OMIM:619702 |
| Yuan-Harel-Lupski Syndrome |
|
High palate, Aortic root aneurysm, Ventricular septal defect, Decreased nerve conduction velocity... |
OMIM:616652 |
| Branchiootorenal Syndrome 1 |
|
Polycystic kidney dysplasia, Conductive hearing impairment, Incomplete partition of the cochlea t... |
OMIM:113650 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Hydrocephalus, Ankyloglossia, Interrupted aortic arch, Long philtrum, Sensorineural ... |
ORPHA:250989 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Double outlet right ventric... |
OMIM:617912 |
| Catel-Manzke Syndrome |
|
Camptodactyly, Low-set ears, Coarctation of aorta, Cystic hygroma, Dextrocardia, Short neck, Vent... |
OMIM:616145 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
| Burning Mouth Syndrome |
|
Parageusia, Abnormal fifth cranial nerve morphology, Xerostomia, Strawberry tongue, Tongue pain, ... |
ORPHA:353253 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Spinocerebellar atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
| Branchiooculofacial Syndrome |
|
Hearing impairment, Cleft palate, Overfolded helix, Cleft upper lip, Lower lip pit, Malrotation o... |
OMIM:113620 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Death in childhood, Agenesis of cerebellar vermis, Cerebellar dysplasia, Hydrocephalus, Hypoplasi... |
OMIM:613153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pons, Cerebellar cyst, Hypoplasia of the b... |
OMIM:615181 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebell... |
OMIM:613155 |
| Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia |
OMIM:613717 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... |
OMIM:617205 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar dysplasia, Hypoplasia of the pons, Ventriculomegaly, Abnormal cerebellum morphology, H... |
ORPHA:101070 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Low-set ears, Dextrocardia, High palate, Pulmonic stenosis, Ventricular septal defect, Thoracic a... |
OMIM:619657 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Polymicrogyria, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Knee flexion cont... |
OMIM:603387 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Joubert Syndrome 14 |
|
Encephalocele, Low-set ears, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Posterior... |
OMIM:614424 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Arrhinencephaly |
OMIM:614815 |
| Joubert Syndrome 3 |
|
Low-set ears, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth s... |
OMIM:608629 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Low-set ears, Cystic hygroma, Redundant neck skin, Coarctation of aorta... |
OMIM:618164 |
| Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Low-set ears, Coarctation of aorta, Pulmonic stenosis, Right aortic arc... |
OMIM:601186 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis, Coarctation of aorta, Sclerotic cranial sutures, Atrial septal defect, Arthropathy, P... |
ORPHA:371428 |
| Gorham-Stout Disease |
|
Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal optic disc morphology, Coarctation of aorta, Hip dislocation, Generalized joint laxity, ... |
ORPHA:508498 |
| Bilateral Polymicrogyria |
|
Low-set ears, 4-layered lissencephaly, Facial diplegia, Difficulty in tongue movements, Abnormal ... |
ORPHA:268940 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly |
OMIM:614464 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Anal atresia, High palate, Intestinal malrotation, Duodenal at... |
ORPHA:2059 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... |
OMIM:217095 |
| Feingold Syndrome Type 1 |
|
Esophageal atresia, Anal atresia, Conductive hearing impairment, Duodenal atresia, Jejunal atresi... |
ORPHA:391641 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Umbili... |
OMIM:600001 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Jaundice, Low-set ears, Neurogenic bladder, Short neck, Death in i... |
OMIM:608779 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Stapes ankylosis, Tetralogy of Fallot, Lobar holoprosencephaly, Submucous cleft har... |
OMIM:614701 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
| Halperin-Birk Syndrome |
|
Death in childhood, High palate, Hip dislocation, Umbilical hernia, Semilobar holoprosencephaly, ... |
OMIM:618651 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology |
OMIM:617757 |
| Perching Syndrome |
|
Cyanosis, Camptodactyly, High palate, Joint contracture |
OMIM:617055 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Abnormality of the nec... |
ORPHA:1926 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft palate, Low-set ears, Hypoplastic left heart, Duodenal atresia, Ventricular septal d... |
OMIM:301043 |
| Feingold Syndrome 1 |
|
Low-set ears, Esophageal atresia, Thick vermilion border, High palate, Duodenal atresia, Ventricu... |
OMIM:164280 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Abnormal cerebellum morphology, Ventriculomegaly |
ORPHA:255182 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Atresia of the external auditory canal, Holoprosencephaly, Hearing impairmen... |
ORPHA:3186 |
| Holoprosencephaly 14 |
|
Low-set ears, Ventricular septal defect, Hydrocephalus, Cleft lip, Aqueductal stenosis, Alobar ho... |
OMIM:619895 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Megarectum, Pulmonary artery atresia, Low-set ears, Redundant neck skin, Pulmon... |
OMIM:301056 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect, Widely spa... |
OMIM:617506 |
| Congenital Tracheomalacia |
|
Tracheomalacia, Esophageal atresia, Right aortic arch, Tetralogy of Fallot, Ventricular septal de... |
ORPHA:95430 |
| Joubert Syndrome 2 |
|
Encephalocele, Thickened superior cerebellar peduncle, Low-set ears, Dysgenesis of the cerebellar... |
OMIM:608091 |
| Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Hypoplasia of the... |
OMIM:610688 |
| Partial Atrioventricular Septal Defect |
|
Partial atrioventricular canal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of... |
ORPHA:1330 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Joint stiffness, Protruding ear, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1166 |
| Tick-Borne Encephalitis |
|
Stiff neck, Tinnitus, Abnormal cranial nerve morphology, Abnormality of the vestibular nerve, Abn... |
ORPHA:297 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... |
ORPHA:3232 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar cyst, Abnormal brainstem ... |
ORPHA:370022 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Chronic otitis media, Intestinal malrotation, Atrial situs ambiguous, Con... |
ORPHA:244 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Low-set ears, Neo... |
OMIM:611890 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft, Hydrocephalus |
OMIM:617542 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Low-set ears, Elongated superior cerebellar peduncle, Cerebellar vermis ... |
OMIM:618161 |
| Distal Triplication 15Q |
|
Craniosynostosis, Camptodactyly, Low-set ears, High palate, Abnormal helix morphology, Hypoplasti... |
ORPHA:314588 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Coarctation of aorta, Right aortic arch, Tetralogy of Fallot... |
ORPHA:980 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Abnormal upper motor neuron morphology, Spinocerebellar atrophy |
OMIM:215470 |
| Rare Circulatory System Disease |
|
Vascular calcification, Abnormality of the knee, Decreased finger mobility, Abnormal systemic art... |
ORPHA:98028 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Anteverted ears, Microtia, first degree, Aplasia of th... |
OMIM:610706 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Anteriorly placed anus, Ventricular septal defect, Atrial septal defect, Hydrocepha... |
OMIM:309801 |
| Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Perimembranous ventricul... |
OMIM:180849 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
| Hadziselimovic Syndrome |
|
Low-set ears, Pulmonary artery atresia, Anal atresia, High palate, Tetralogy of Fallot, Ventricul... |
OMIM:612946 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate, Dandy-Walker malformation, Tetralogy of Fallot |
ORPHA:217 |
| Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Hypereosinophilia, Thoracic aortic aneurysm, Dilated l... |
ORPHA:449400 |
| Monosomy 18Q |
|
Secundum atrial septal defect, Dysplastic pulmonary valve, Left aortic arch with right descending... |
ORPHA:1600 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Hydrocephalus, Molar tooth sign on MRI, Cerebel... |
ORPHA:2318 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Atrial septal defect, Left superior vena cava draini... |
ORPHA:185 |
| De Barsy Syndrome |
|
Generalized joint laxity, Ventricular septal defect, Hypoplastic aortic arch, Narrow mouth, Large... |
ORPHA:2962 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Abnormal brain... |
ORPHA:99852 |
| Spinocerebellar Ataxia Type 2 |
|
Spinal cord posterior columns myelin loss, Olivopontocerebellar hypoplasia, Abnormal substantia n... |
ORPHA:98756 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Prominent metopic ridge, Protruding ear, Ventricular septal defect... |
OMIM:300855 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Hydrocephalus, Molar tooth sign on MRI, Cerebel... |
ORPHA:220497 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Olivopontocerebellar hypoplasia, Abnormal brainstem morphology, Occipital encephal... |
ORPHA:370959 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Cerebellar vermis hypoplasia |
OMIM:610992 |
| Williams Syndrome |
|
Stroke, Chronic otitis media, Protruding ear, Tetralogy of Fallot, Abnormality of the neck, Ventr... |
ORPHA:904 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Tracheomalacia, Mesocardia, Dextrocardia, Hypoplastic left heart, Int... |
OMIM:618280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Charge Syndrome |
|
Secundum atrial septal defect, Right aortic arch, Tetralogy of Fallot, Ventricular septal defect,... |
OMIM:214800 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Atrial septal defect, Wide anterior fontanel, Double outlet right ventricle, Delay... |
OMIM:614886 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopathy, Sensorineural hearing... |
ORPHA:17 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:216694 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Hypoplasia of right ventricle, Pulmonic stenosis, Tetralogy of Fallot, Ve... |
ORPHA:2255 |
| Joubert Syndrome 7 |
|
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal p... |
ORPHA:206448 |
| 16P13.11 Microduplication Syndrome |
|
Craniosynostosis, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Atrial se... |
ORPHA:261243 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Low-set ears, Hydranencephaly, Neonatal death, Stillbirth, Hypoplasia of the brainstem, Cerebella... |
OMIM:236500 |
| Perlman Syndrome |
|
Open mouth, Low-set ears, Volvulus, Interrupted aortic arch, Tented upper lip vermilion, Distal i... |
OMIM:267000 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... |
OMIM:609136 |
| Mullegama-Klein-Martinez Syndrome |
|
Low-set ears, Coarctation of aorta, Hypoplastic left heart, Bifid uvula, Cleft lip, Atresia of th... |
OMIM:301022 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Tracheomalacia, Right aortic arch, Ventricular septal defect, Widely spaced teeth, Lower-limb joi... |
ORPHA:513456 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Prominent metopic ridge, Protruding ear, Atrial septal defect, Bifid uvula, Widely spaced teeth, ... |
OMIM:612474 |
| Congenital Gerbode Defect |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Abnormal tricuspid valve le... |
ORPHA:99095 |
| Isolated Klippel-Feil Syndrome |
|
Anal atresia, Abnormal cranial nerve morphology, Spina bifida, Short neck, Ventricular septal def... |
ORPHA:2345 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Accessory oral frenulum, Cleft palate, Double aortic arch, Hearing impairme... |
OMIM:616954 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Coarctation of aorta, Atrial septal defect, Posteriorly rotated ears, Cleft palate,... |
OMIM:615502 |
| Slc35A2-Cdg |
|
Atrophy/Degeneration affecting the brainstem, Dandy-Walker malformation, Lateral ventricle dilata... |
ORPHA:356961 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Polymicrogyria, Dysgenesis of the cerebellar vermis, Open mouth, Cerebellar dysplas... |
OMIM:617751 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Hydrocephalus, Molar tooth sign on MRI, Cerebel... |
ORPHA:220493 |
| Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta, Generalized osteosclerosis, Advanced ossification of carpal b... |
OMIM:215045 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Low-set ears, Diastema, Ventricular septal defect, Umbilical hernia, Posteriorly ro... |
OMIM:301040 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Digeorge Syndrome |
|
Low-set ears, High palate, Bifid uvula, Right aortic arch with mirror image branching, Tetralogy ... |
OMIM:188400 |
| Down Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defe... |
OMIM:190685 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Death in childhood, Bifid uvula, Short neck, Ventricular septal defect, Umbilical hernia, Hydroce... |
OMIM:612938 |
| Joubert Syndrome 37 |
|
Posteriorly rotated ears, Molar tooth sign on MRI, Low-set ears, Cerebellar vermis hypoplasia |
OMIM:619185 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Maternal Phenylketonuria |
|
Esophageal atresia, High palate, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallo... |
ORPHA:2209 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Low-set ears, Hypoplasia of the brainstem, Rhombencephalosynapsis, Cerebellar hypoplasia, Simple ... |
OMIM:619306 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Spinocerebellar tract degenerat... |
ORPHA:276244 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Cerebellar atrophy, Lateral ventricle dila... |
ORPHA:300573 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Joint stiffness, Short neck, Ventricular septal defect, Cleft palate, High, narrow palate, Abnorm... |
ORPHA:2516 |
| Joubert Syndrome 1 |
|
Low-set ears, Occipital myelomeningocele, Dysgenesis of the cerebellar vermis, Agenesis of cerebe... |
OMIM:213300 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly, Hypoplasia of ... |
OMIM:616546 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Low-set ears, Dextrocardia, Hypoxemia, Patellar hypoplasia, Cleft ... |
ORPHA:2257 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Coarctation of aorta, Left ventricular noncompaction, Perimembrano... |
OMIM:613426 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Protruding ear, Ventricular septal defect, Atrial septal defect, P... |
OMIM:249420 |
| Giant Cell Arteritis |
|
Vasculitis, Glossitis, Conductive hearing impairment, Joint stiffness, Double outlet right ventri... |
ORPHA:397 |
| Encephalocraniocutaneous Lipomatosis |
|
Osteolysis, Coarctation of aorta, Tricuspid valve prolapse, Osteochondrosis, Interrupted aortic a... |
ORPHA:2396 |
| Distal Deletion 10Q |
|
Low-set ears, Inferior cerebellar vermis hypoplasia, Protruding ear, Cochlear malformation, Facia... |
ORPHA:96148 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Poorly formed metencephalon, Absent mesencephalon, Cerebellar dysplasia |
OMIM:601374 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| 47,Xyy Syndrome |
|
Low-set ears, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hydrocephalus, Abnormal ... |
ORPHA:8 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Cleft palate, Smooth philtrum, Conductive hearing impairment, Neurogen... |
OMIM:130720 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... |
OMIM:128980 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Low-set, posteriorly rotated ears, Low-set ears, Dysgenesis of the cerebellar vermi... |
ORPHA:397715 |
| Distal Deletion 15Q |
|
Mitral stenosis, Low-set ears, Abnormality of the dentition, Coarctation of aorta, Cystic hygroma... |
ORPHA:1596 |
| Craniofacial Microsomia |
|
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Occipital encephalocele, Cleft... |
OMIM:164210 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Polymicrogyria, Open mouth, Cerebellar dysplasia, Ventricular septal defect, Umbilical hernia, Ab... |
ORPHA:500159 |
| Tarp Syndrome |
|
Prominent antihelix, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Atrial septal defect... |
ORPHA:2886 |
| Neuralgic Amyotrophy |
|
Narrow mouth, Acrocyanosis, Cleft palate |
ORPHA:2901 |
| Viss Syndrome |
|
Hip dislocation, Generalized joint laxity, Bifid uvula, Left aortic arch with retroesophageal rig... |
OMIM:619472 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Hypoplastic aortic arch, Mitral atresia, Patent duc... |
ORPHA:2248 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| 20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hip dislocation, Prominent crus of helix, Atrial septal defect... |
ORPHA:261311 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Broad neck, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of the pons, Deep philtrum... |
ORPHA:163956 |
| Mungan Syndrome |
|
Megaduodenum, Pulmonic stenosis, Perimembranous ventricular septal defect, Barrett esophagus, Abn... |
OMIM:611376 |
| Microphthalmia, Syndromic 2 |
|
Oligodontia, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defec... |
OMIM:300166 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septa... |
ORPHA:567 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Pulmonic stenosis, Short neck, Atrial septal defect, Cleft lip, Contracture of the ... |
OMIM:618223 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Duoden... |
OMIM:270100 |
| Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Abnormal coronary artery morphology, Subarterial ventricular... |
ORPHA:99094 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, Low-set, post... |
ORPHA:1908 |
| 3C Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Atr... |
ORPHA:7 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hearing impairment, Long philt... |
ORPHA:251076 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Ventriculome... |
ORPHA:467166 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Tetralogy of Fallot, Contracture of the proximal interphalangeal joint of the 5th finger, Ventric... |
OMIM:280000 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia |
OMIM:619562 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Abnormal ve... |
OMIM:617992 |
| 15Q11.2 Microdeletion Syndrome |
|
Coarctation of aorta, Abnormal palate morphology, Ventricular septal defect, Total anomalous pulm... |
ORPHA:261183 |
| Fetal Trimethadione Syndrome |
|
Low-set ears, High palate, Abnormal helix morphology, Tetralogy of Fallot, Ventricular septal def... |
ORPHA:1913 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Agenesis of cerebellar vermis, Atrial septal defect, Tetralogy of Fallot,... |
OMIM:601322 |
| Osteogenesis Imperfecta, Type I |
|
Finger joint hypermobility, Bruising susceptibility, Aortic aneurysm, Wormian bones, Osteopenia, ... |
OMIM:166200 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the twelfth cranial nerve, Tinnitus, Functional abnormality of the inn... |
ORPHA:268882 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Hydranencephaly, Cleft palate, Webbed neck, Truncus arteriosus |
OMIM:601355 |
| Carpenter Syndrome 1 |
|
Agenesis of permanent teeth, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect... |
OMIM:201000 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Short neck, Simplified gyral pattern, Knee flexion contracture, Thickened nucha... |
ORPHA:284417 |
| Verheij Syndrome |
|
Vertebral fusion, Hip dislocation, Short neck, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:615583 |
| Warsaw Breakage Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect, Hearing impairment, Cupped ear, Hypo... |
OMIM:613398 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Camptodactyly, Low-set ears, Conductive hearing impairment, Widely-spaced ma... |
OMIM:136760 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Hearing impai... |
ORPHA:2720 |
| Xq21 Microdeletion Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Bilateral sensorineural hearing impairment, Abno... |
ORPHA:1435 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Vertigo, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hearing impairment |
ORPHA:79279 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
| Fumarase Deficiency |
|
Polymicrogyria, High palate, Perimembranous ventricular septal defect, Reduced subcutaneous adipo... |
OMIM:606812 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Molar tooth ... |
OMIM:216360 |
| Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala... |
OMIM:185800 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the semicircular ... |
ORPHA:648 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Abnormal ascending aorta morphology, Left ventricular hypertrophy, Aor... |
ORPHA:2299 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
| Otofaciocervical Syndrome 1 |
|
Cupped ear, Conductive hearing impairment, Hypoplasia of the cochlea, Mixed hearing impairment |
OMIM:166780 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morphology, Ventriculomegaly, Cereb... |
ORPHA:370997 |
| Cerebellar-Facial-Dental Syndrome |
|
Low-set ears, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Ventriculomegaly, Hy... |
ORPHA:444072 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Tetralogy of Fallot, Posteriorly rotated ears, Optic disc pallor, Ventricul... |
OMIM:300887 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Tooth malposition, Solitary median maxillary central incisor, Hearing impairment, Cl... |
ORPHA:2712 |
| Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Short neck, Abnormal pinna morphology, Ventricular septal defect, ... |
OMIM:214300 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvul... |
OMIM:616531 |
| Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Pulmonary artery atresia, Hypoplasia of right ventricle, Double inlet left ventr... |
OMIM:212093 |
| Saethre-Chotzen Syndrome |
|
Low-set ears, Conductive hearing impairment, External ear malformation, Prominent crus of helix, ... |
ORPHA:794 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Abnormal cranial nerve morphology, Aplasia of the inner ear, Hearing impairment, Sensorineural he... |
ORPHA:90024 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Narrow mouth, Patent forame... |
OMIM:612582 |
| Tetrasomy 5P |
|
Low-set ears, High palate, Redundant neck skin, Short neck, Hydrocephalus, Posteriorly rotated ea... |
ORPHA:3309 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Cyan... |
OMIM:207950 |
| Schinzel-Giedion Syndrome |
|
Abnormal heart morphology, Abnormal cochlea morphology, Large earlobe, Broad alveolar ridges, Abn... |
ORPHA:798 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Tongue fasciculations, Segm... |
OMIM:601596 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II |
OMIM:617660 |
| Criss-Cross Heart |
|
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Tricuspid stenosi... |
ORPHA:1461 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Coarctation of aorta, Anteriorly placed anus, Bifid uvula, Tetralogy of Fallot, Ven... |
OMIM:617159 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym... |
OMIM:184460 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Coarctation of aorta, Abnormal helix morphology, Spina bifida, Atrial septal defect, Atrioventric... |
ORPHA:1120 |
| Congenital Tracheal Stenosis |
|
Preductal coarctation of the aorta, Anomalous origin of left pulmonary artery from ascending aort... |
ORPHA:141127 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Double outlet right ventricle, Bi... |
OMIM:109730 |
| German Syndrome |
|
Camptodactyly of finger, High palate, Open mouth, Tetralogy of Fallot, Short neck, Everted lower ... |
ORPHA:2077 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Joint contracture of the 5th finger, Simplified gyral pattern, Long philtrum... |
OMIM:614407 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Low-set ears |
OMIM:607131 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Polymicrogyria, Tetralogy of Fallot, Short neck, Ventricular septal defect, Posteri... |
ORPHA:2328 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... |
ORPHA:3400 |
| Doors Syndrome |
|
Widely spaced teeth, Cleft palate, Narrow palate, Sagittal craniosynostosis, Broad alveolar ridge... |
ORPHA:79500 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Transaldolase Deficiency |
|
Low-set ears, Coarctation of aorta, Short neck, Ventricular septal defect, Atrial septal defect, ... |
OMIM:606003 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Diamond-Blackfan Anemia 6 |
|
Tracheomalacia, Bifid uvula, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot... |
OMIM:612561 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Type II lissencephaly, Polymicrogyria, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:253800 |
| Alkuraya-Kucinskas Syndrome |
|
Low-set ears, Cerebellar dysplasia, Hydrocephalus, Posteriorly rotated ears, Kinked brainstem, Ve... |
OMIM:617822 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Low-set ears, Coarctation of aorta, Conductive hearing impairment... |
ORPHA:2780 |
| Joubert Syndrome 38 |
|
Low-set ears, Inferior cerebellar vermis hypoplasia, Posteriorly rotated ears, Molar tooth sign o... |
OMIM:619476 |
| Obsolete: Arnold-Chiari Malformation Type Ii |
|
Syringomyelia, Brain stem compression, Myelomeningocele, Hydrocephalus, Meningocele, Aqueductal s... |
ORPHA:1136 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Situs inversus totalis, Secundum atrial septal defect, Protruding ear, Right aortic arch, Ventric... |
OMIM:619534 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Sensorin... |
ORPHA:2590 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Low-set ears, High palate, Short neck, Abnormal pinna morphology, Ventricular septal defect, Hear... |
ORPHA:52055 |
| Recombinant 8 Syndrome |
|
Chronic otitis media, Camptodactyly of finger, Tetralogy of Fallot, Abnormality of the neck, Vent... |
ORPHA:96167 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Subvalvular aortic stenosis, Bic... |
OMIM:614980 |
| 8P23.1 Microdeletion Syndrome |
|
Low-set ears, High palate, External ear malformation, Hypoplastic left heart, Tetralogy of Fallot... |
ORPHA:251071 |
| Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Low-set ears, Ventriculomegaly |
OMIM:617563 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Patellar dislocation,... |
ORPHA:353281 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Low-set ears, Open mouth, Short neck, Everted lower lip vermilion, Macrotia, Patent... |
OMIM:616789 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hearing impairment, Hypertrophic cardiomyopathy, Cyanosis, Optic atrophy |
ORPHA:391428 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Weiss-Kruszka Syndrome |
|
Low-set ears, Prominent metopic ridge, Protruding ear, Ventricular septal defect, Left ventricula... |
OMIM:618619 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Cerebellar atrophy, Lip discoloration |
ORPHA:621 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cerebellar dysplasia, Hydrocephalus, Cerebellar cyst, Death in infancy, Ventriculo... |
OMIM:613150 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Death in childhood, Low-set ears, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary art... |
OMIM:600460 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Bilateral sensorineural hearing impairment, Abnormal lower motor neuron morphology, Abnormal uppe... |
ORPHA:275872 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Chronic otitis media, Ascending aorta hypoplasia, Hypoplastic left heart, Agenesis of permanent t... |
OMIM:619503 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Facial palsy, High palate, Decreased size of nerve terminals |
ORPHA:98913 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the c... |
ORPHA:98755 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
High palate, Fusiform ascending tubular aorta aneurysm, Aortic root aneurysm, Left ventricular hy... |
OMIM:617168 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Stillbirth, Macrotia, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walker... |
OMIM:616300 |
| Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 4th finger, Dis... |
OMIM:186500 |
| Tarp Syndrome |
|
Prominent antihelix, Low-set ears, High palate, Subdural hemorrhage, Tetralogy of Fallot, Atrial ... |
OMIM:311900 |
| Ververi-Brady Syndrome |
|
Low-set ears, High palate, Everted lower lip vermilion, Cupped ear, Macrotia, Smooth philtrum, Th... |
OMIM:617982 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Low-set ears, Dysgenesis of the cerebellar vermis, Posteriorly rotated ears, Lateral ventricle di... |
OMIM:619479 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Orofaciodigital Syndrome Xvii |
|
Low-set ears, Prominent metopic ridge, Tetralogy of Fallot, Short neck, Hearing impairment, High,... |
OMIM:617926 |
| Phace Association |
|
Coarctation of aorta, Ventricular septal defect, Aortic aneurysm, Anomalous branches of internal ... |
OMIM:606519 |
| Deafness, Progressive, With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
ORPHA:3235 |
| Pallister-Hall Syndrome |
|
Preductal coarctation of the aorta, Anal atresia, Hip dislocation, Anteriorly placed anus, Ventri... |
OMIM:146510 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Atrial septal defect, Narrow mouth, Epiphyseal stippling, Interphalang... |
ORPHA:96334 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atrial septal defect, Synostosis of car... |
ORPHA:896 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Prominent metopic ridge, Hydrocephalus, Hypoplastic aortic arch, Olivopontocerebellar... |
ORPHA:457284 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal pons morphology, Paucity of anterior... |
ORPHA:79139 |
| Esophageal Atresia |
|
Intestinal malrotation, Coarctation of aorta, Abnormality of the ear, Pyloric stenosis, Laryngotr... |
ORPHA:1199 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Low-set ears, High palate, Bifid uvula, Tetralogy of Fallot, Ventricular septal... |
OMIM:174300 |
| Cerebellofaciodental Syndrome |
|
Low-set ears, Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the midbrain, Cerebellar hy... |
OMIM:616202 |
| Hutchinson-Gilford Progeria Syndrome |
|
Stroke, Avascular necrosis, Mitral stenosis, Hip dislocation, Osteolytic defects of the distal ph... |
ORPHA:740 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Esophageal atresia, Coarctation of aorta, Duodenal atresia, Short neck, Ventricular... |
OMIM:300514 |
| Generalized Arterial Calcification Of Infancy |
|
Stroke, Abnormal calcification of the carpal bones, Stapes ankylosis, Calcification of the auricu... |
ORPHA:51608 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Tetralogy of Fallot, Short neck, Ventricular septal defect, Posteriorly rotated ear... |
ORPHA:1780 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bilateral cleft lip and palate, Hypoplastic left heart, Short neck, Abnormal aortic morphology, B... |
ORPHA:2001 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Polymicrogyria, Low-set ears, Coarctation of aorta, Dextrocardia, Anal atresia, Ve... |
OMIM:264480 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Bilateral superi... |
OMIM:605376 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Hearing impairment |
ORPHA:314621 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal pulmonary valve morphology, Papilledema, Cardiomyopathy, Abnormal mitral valve morpholog... |
ORPHA:580 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation |
OMIM:221770 |
| Orofaciodigital Syndrome Vi |
|
Low-set ears, Conductive hearing impairment, Arrhinencephaly, Posteriorly rotated ears, Occipital... |
OMIM:277170 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Hydrocephalus, Cleft palate, Anotia, Microtia |
OMIM:243440 |
| Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Occipital encephalocele, A... |
OMIM:610188 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal cerebellum morphology... |
ORPHA:68 |
| Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Tetralogy of Fallot, Atresia of the external audit... |
ORPHA:2316 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Single ventricle, Atrial situs ambiguous, Coarctation of aorta, Hypoplastic left heart, Dextrocar... |
ORPHA:99125 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Low-set ears, Coarctation of aorta, Anal atresia, Tetralogy of Fallot, V... |
ORPHA:2008 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Pulmonic stenosis, Dysplastic aortic valve, Central cyanosis, Subval... |
OMIM:620067 |
| Arima Syndrome |
|
Agenesis of cerebellar vermis, Brainstem dysplasia, Occipital meningocele, Hypoplasia of the brai... |
OMIM:243910 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Erythema, Recurrent aphthous stomatitis, Intestinal obstruction, Arthritis, Purpura, ... |
ORPHA:343 |
| Holt-Oram Syndrome |
|
Joint stiffness, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atriove... |
ORPHA:392 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Low-set ears, Aortic root aneurysm, Cerebral cavernous malformatio... |
OMIM:619910 |
| 8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Atrioventricular canal defect, Optic nerve hy... |
ORPHA:508488 |
| Aase-Smith Syndrome I |
|
Open mouth, Ventricular septal defect, Hydrocephalus, Abnormal pinna morphology, Death in infancy... |
OMIM:147800 |
| Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
| Loeys-Dietz Syndrome 2 |
|
Bifid uvula, Atrial septal defect, Arterial tortuosity, Cleft palate, Descending thoracic aorta a... |
OMIM:610168 |
| Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Low-set ears, Aplasia/Hypoplasia of the tongue, Bifid uvula, Atrial septal defe... |
ORPHA:1790 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Tetralogy of F... |
OMIM:208530 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Patellar dislocation,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, Patellar dislocation,... |
ORPHA:353277 |
| Cat Eye Syndrome |
|
Rectal fistula, Low-set ears, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy ... |
OMIM:115470 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Abnormal tricuspid valve leaflet morphology, Tricusp... |
ORPHA:555874 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Jaundice, Atrial septal defect |
ORPHA:1667 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Abnormality of the dentition, Joint stiffness, Bone... |
ORPHA:1306 |
| Branchiootic Syndrome |
|
Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can... |
ORPHA:52429 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Double outlet right ventricle, R... |
OMIM:615067 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, Transient i... |
ORPHA:91387 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Low-set ears, Camptodactyly, High palate, Pulmonic stenosis, Ventricular septal defect, Atrial se... |
OMIM:619343 |
| Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Bifid uvula, Tetralogy of Fallot, Accessory oral frenulum, Aganglion... |
ORPHA:2919 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Sensorineural hearing impairment, Cardiomyopathy |
ORPHA:3222 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Tetrasomy 9P |
|
Bifid uvula, Median cleft lip and palate, Abnormal mitral valve morphology, Joint dislocation, Ab... |
ORPHA:3310 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Hydrocephalus, Cardiomegaly, Cleft palate, Cerebellar malformation, Cy... |
ORPHA:137675 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Cleft palate, Patent foramen ovale, Cerebellar hypoplasia, Lissencepha... |
OMIM:256520 |
| Benign Schwannoma |
|
Abnormality of the twelfth cranial nerve, Abnormal cranial nerve morphology, Vestibular schwannom... |
ORPHA:252164 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Low-set ears, Cerebellar dysplasia, Hydrocephalus, Occipital encephalocele, Atresia of the extern... |
OMIM:236670 |
| Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Median cleft palate, High palate, Bilateral sensorineural hearing impairment,... |
ORPHA:40366 |
| Cardiac Diverticulum |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, ... |
ORPHA:1686 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Papilledema, Cardiomyopathy, Abnorm... |
ORPHA:217085 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Atrial septal defect, Thoracic aortic aneurysm, Brachiocephalic arte... |
OMIM:613834 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Bruising susceptibility, Left ventricular hypertrophy, Volvulus, Right ventric... |
ORPHA:335 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Abnormal pulmonary valve morphology, Papilledema, Cardiomyopathy, Abnorm... |
ORPHA:217093 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Osteoporosis, Atre... |
OMIM:612562 |
| Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Camptodactyly of finger, Abnormal pulmonary valve morphology, Tetralogy of ... |
ORPHA:1507 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic... |
ORPHA:3405 |
| Gangliocytoma |
|
Syringomyelia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Spinal cord tumor |
ORPHA:251937 |
| Unilateral Polymicrogyria |
|
Pulmonary arteriovenous malformation, Stroke, Infantile sensorineural hearing impairment, Abnorma... |
ORPHA:268943 |
| Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Purpu... |
OMIM:225750 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Tooth agenesis, Tetralogy of Fallot, Ventricular septal defe... |
ORPHA:2162 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
| 3Mc Syndrome 1 |
|
Coronal craniosynostosis, Conductive hearing impairment, Ventricular septal defect, Atrial septal... |
OMIM:257920 |
| Zimmermann-Laband Syndrome 1 |
|
Low-set ears, High palate, Aortic root aneurysm, Umbilical hernia, Aortic arch aneurysm, Posterio... |
OMIM:135500 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Overfolded helix, Web... |
OMIM:300373 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Vasculitis, Abnormal pericardium morphology, Endocarditis, Malabsorption, Intestinal... |
ORPHA:183 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal cyst |
ORPHA:18 |
| Opitz Gbbb Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Atrial septal defect, Ankyloglossia, Abnormal... |
ORPHA:2745 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
| Meckel Syndrome 14 |
|
Increased nuchal translucency, Low-set ears, Short neck, Occipital encephalocele, Holoprosencepha... |
OMIM:619879 |
| Congenital Myasthenic Syndrome |
|
Low-set ears, High palate, Congenital hip dislocation, Frontalis muscle weakness, Joint laxity, S... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Low-set ears, High palate, Congenital hip dislocation, Frontalis muscle weakness, Joint laxity, S... |
ORPHA:98914 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Hip dislocation, Malabsorption, Joint dislocation, Osteoarthritis, Osteolys... |
ORPHA:285 |
| Kawasaki Disease |
|
Myocarditis, Vasculitis, Jaundice, Palmoplantar erythema, Glossitis, Cheilitis, Double outlet rig... |
ORPHA:2331 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Dextrocardia, Anal atresia, Hydrocephalus, Atrioventricular canal defect, Neo... |
OMIM:314390 |
| Duane Retraction Syndrome |
|
External ear malformation, Hearing impairment, Spina bifida occulta, Stenosis of the external aud... |
ORPHA:233 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Death in infancy, Misalignment of the pulmonary veins, Neonatal death |
OMIM:265120 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology,... |
ORPHA:35689 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology, ... |
ORPHA:1923 |
| Orofaciodigital Syndrome Xiv |
|
Low-set ears, Posteriorly rotated ears, Occipital encephalocele, Holoprosencephaly, Cerebellar hy... |
OMIM:615948 |
| Igg4-Related Ophthalmic Disease |
|
Colon cancer, Abnormal fifth cranial nerve morphology, Sialadenitis, Abnormality of infra-orbital... |
ORPHA:449563 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Low-set ears, Coronal craniosynostosis, Pyloric stenosis, Contracture of the distal interphalange... |
ORPHA:83617 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Low-set ears, Torticollis, Coarctation of aorta, Dermatographic urticaria, Bifid uvula, Spina bif... |
OMIM:619480 |
| Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Conductive hearing impairment, Cerebe... |
ORPHA:2754 |
| 17Q24.2 Microdeletion Syndrome |
|
Tooth malposition, Broad neck, Short neck, Pulmonic stenosis, Abnormality of the wrist, Recurrent... |
ORPHA:529962 |
| Thoracoabdominal Syndrome |
|
Cystic hygroma, Hydrocephalus, Anencephaly, Cleft palate, Ectopia cordis, Patent ductus arteriosu... |
OMIM:313850 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... |
ORPHA:2184 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Craniosynostosis And Dental Anomalies |
|
Chronic otitis media, Coronal craniosynostosis, Prominent metopic ridge, Conductive hearing impai... |
OMIM:614188 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Hydrocephalus, Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Vent... |
OMIM:249000 |
| Classical Ehlers-Danlos Syndrome |
|
Hip dislocation, Generalized joint laxity, Poor wound healing, Osteoarthritis, Shoulder dislocati... |
ORPHA:287 |
| Full Nf2-Related Schwannomatosis |
|
Bilateral vestibular schwannoma, Brain stem compression, Tinnitus, Hydrocephalus, Myelopathy, Abn... |
ORPHA:637 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Ankle clonus, Dextrotransposition of the great arteries, ... |
OMIM:619995 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis... |
OMIM:602433 |
| Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Hypoxemia, Right atrial enlargement, Muscular ventricular septal defect, Pa... |
ORPHA:439 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Dilatation of ... |
OMIM:610655 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Macroglossia, Coarctation of aorta, Tetralogy of Fallot, Hearing impairment, ... |
ORPHA:96147 |
| Alzahrani-Kuwahara Syndrome |
|
Low-set ears, Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Optic di... |
OMIM:619268 |
| Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Hydrocephalu... |
ORPHA:1335 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia, Foam cells |
ORPHA:747 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Loeys-Dietz Syndrome 1 |
|
Craniosynostosis, Camptodactyly, Aortic root aneurysm, Atrial septal defect, Hydrocephalus, Bifid... |
OMIM:609192 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Pericardial And Diaphragmatic Defect |
|
Atrial septal defect, Tetralogy of Fallot, Hypoxemia, Abnormal heart morphology, Bicuspid aortic ... |
ORPHA:2847 |
| Asbestos Intoxication |
|
Myocardial fibrosis, Hypoxemia, Cor pulmonale, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
| Congenital Alveolar Capillary Dysplasia |
|
Anal atresia, Intestinal malrotation, Hypoplastic left heart, Ventricular septal defect, Tetralog... |
ORPHA:210122 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:444013 |
| Gaucher Disease, Type Ii |
|
Double aortic arch, Death in infancy |
OMIM:230900 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Ischemic stroke, Hypoxemia, Pulmonary arteriovenous fistulas, Telangiecta... |
ORPHA:2038 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture, Optic neuropathy, Bone pain, Cutis marmorata... |
OMIM:259900 |
| Acrofacial Dysostosis 1, Nager Type |
|
Limited elbow extension, Low-set ears, Polymicrogyria, Conductive hearing impairment, Hip disloca... |
OMIM:154400 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Stroke, Unroofed coronary sinus, Right atrial enlargement, Transient ischemic attack, Right ventr... |
ORPHA:99104 |
| Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Limited neck range of motion |
ORPHA:33069 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Concentric hypertrophic cardiomyopathy, Optic neuropathy, Optic disc pallor, Death in infancy, Se... |
OMIM:252010 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Widely spaced teeth, Abnormal heart morphology, Hearing impairment, Smooth philtrum, Webbed neck,... |
ORPHA:487796 |
| Chime Syndrome |
|
Osteolysis, Hip dislocation, Erythema, Abnormality of the dentition, Tetralogy of Fallot, Ventric... |
ORPHA:3474 |
| Mckusick-Kaufman Syndrome |
|
