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Gene: Gbx2 MGI:95668

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gastrulation brain homeobox 2
Synonyms:
Gbx-2,  MMoxA,  Stra7

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 Gbx2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gbx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Genitopalatocardiac Syndrome
Low-set ears, Cleft upper lip, Right aortic arch, Ventricular septal defect, Double outlet right ... OMIM:231060
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Recurrent otitis media, Cyanosis, Protruding ear, Persistent left superior v... ORPHA:3304
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Usher Syndrome Type 1
Vestibular hypofunction, Aplasia/Hypoplasia of the cerebellum, Abnormal cochlea morphology, Senso... ORPHA:231169
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Gómez-López-Hernández Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum mo... ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Chudley-Mccullough Syndrome
Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Severe sensorineura... OMIM:604213
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Skraban-Deardorff Syndrome
Widely spaced teeth, Recurrent otitis media, Thick upper lip vermilion, Absent cupid's bow, Right... OMIM:617616
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Low-set ears, Cerebellar vermis hypoplasia, High, narrow palate, Cleft l... OMIM:616920
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ova... ORPHA:477817
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Delayed skeletal maturation, Carpal synostosis, Recu... OMIM:157800
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Osteopenia, Conductive hearing impairment, Dental crowding, Delayed skeletal matura... OMIM:617877
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Tetralogy of Fallot, Anterio... ORPHA:1727
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Branchial fistula, Sensorineural hea... OMIM:602588
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... ORPHA:1110
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Low-set ears, Tetralogy of Fallot, Right aortic arch, Cyano... OMIM:617478
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Pate... OMIM:601927
Recombinant Chromosome 8 Syndrome
Low-set ears, Abnormality of the dentition, Joint contracture of the hand, Hearing impairment, Do... OMIM:179613
Orofaciodigital Syndrome Xv
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI OMIM:617127
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ventric... OMIM:600987
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death... OMIM:618845
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI OMIM:619111
Crouzon Syndrome
Optic atrophy, Chiari malformation, Hearing impairment, Conductive hearing impairment, Narrow int... ORPHA:207
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abnormal palat... ORPHA:221098
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Delayed skeletal maturation, Ano... ORPHA:2326
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:614120
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Protein-losing enteropathy, Long philtrum, Death in infancy, Neonatal death, Short ... OMIM:608104
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Cyanosis, Abno... ORPHA:3426
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... OMIM:617622
Ritscher-Schinzel Syndrome 1
Low-set ears, Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular sep... OMIM:220210
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Long philtrum, P... OMIM:300845
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Webbed neck, Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Large earl... OMIM:618316
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Synostosis of carpal bones, Hearing... OMIM:101200
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Long philtrum, Stiff neck, Ventricular septal defect, Cardiomegaly, ... OMIM:617022
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Cystic hygroma, Arteria lusoria, Low-set ears, Unbalanced atr... OMIM:620294
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Bor Syndrome
Multicystic kidney dysplasia, Atresia of the external auditory canal, Hearing impairment, Branchi... ORPHA:107
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Camptodactyly of... ORPHA:2876
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Hearing impairment, Dextrocardia OMIM:617577
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Chiari malformation, Sensorineural hearing impairme... ORPHA:87
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Hearing impairment, Velopharyng... ORPHA:363444
Meacham Syndrome
Hypoplastic left heart, Death in infancy, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial cyst, Branchial ... ORPHA:50815
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Snijders Blok-Campeau Syndrome
Low-set ears, Umbilical hernia, Widely spaced teeth, Joint hypermobility, Taurodontia, Perimembra... OMIM:618205
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Chiari malformation, Ventricular septal defec... OMIM:265380
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Hearing impairment ORPHA:1705
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
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Left superior vena cava drainin... OMIM:306955
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Alg3-Cdg
Osteopenia, Hearing impairment, Cardiomyopathy, Hypoplasia of the pons, Dandy-Walker malformation... ORPHA:79321
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, Agenesis of cerebellar vermis... OMIM:611134
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Cleft lip, Abnormal heart morphology, Abnormal ear morph... ORPHA:91412
Chromosome 9P Deletion Syndrome
Low-set ears, High, narrow palate, Narrow palate, Prominent antihelix, Long philtrum, Narrow mout... OMIM:158170
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem ORPHA:352682
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Tetrasomy 15Q26
Low-set ears, Cupped ear, Hydrocephalus, Atrial septal defect, High palate, Camptodactyly, Hypopl... OMIM:614846
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Sandestig-Stefanova Syndrome
Low-set ears, Muscular ventricular septal defect, Underdeveloped tragus, Angulated antihelix, Sho... OMIM:618804
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Hydr... ORPHA:163961
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment OMIM:620469
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Long philtrum, Talipes valgus, Decreased nerve conducti... OMIM:616652
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Branchial cyst, Bra... OMIM:113650
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Situs inversus totalis, Right aortic arch... OMIM:620642
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
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 Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypop... OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia,... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cere... OMIM:613153
Catel-Manzke Syndrome
Low-set ears, Bifid uvula, Joint dislocation, Cleft upper lip, Umbilical hernia, Genu valgum, Nar... OMIM:616145
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Sensorineural hearing impairment, Lo... OMIM:113620
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Cerebellar hypoplasia, Thin upper lip vermili... ORPHA:163979
Fliedner-Zweier Syndrome
Cerebellar atrophy, Long philtrum, Hypoplastic aortic arch, Ventricular septal defect, Joint hype... OMIM:620511
Joubert Syndrome 3
Low-set ears, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle d... OMIM:608629
Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Cerebellar hypoplasia, Thin upper lip vermili... OMIM:300712
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst... ORPHA:101070
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Joint hypermobility, Sensorineural hearing... ORPHA:250989
Treacher Collins Syndrome 2
Conductive hearing impairment, Fusion of middle ear ossicles, Anotia, Cleft palate, Microtia OMIM:613717
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotranspositi... OMIM:619657
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Knee flexion contracture, Ventricular septal defect, Atrial septal defect, Hydroc... OMIM:603387
Joubert Syndrome 14
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hydroceph... OMIM:614424
Gorham-Stout Disease
Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Narrow... ORPHA:138
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... ORPHA:371428
Microphthalmia, Syndromic 9
Low-set ears, Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy o... OMIM:601186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Optic nerve hypoplasia, Hearing impairment, Long philtru... ORPHA:508498
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Fryns Syndrome
Abnormal aortic arch morphology, Non-midline cleft of the upper lip, Long philtrum, Tetralogy of ... ORPHA:2059
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI OMIM:614815
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Stapes ankylosis, Long philtrum, Tetralogy of Fallot,... OMIM:614701
Perching Syndrome
Camptodactyly, High palate, Cyanosis, Joint contracture OMIM:617055
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... ORPHA:353253
Joubert Syndrome 9
Ventriculomegaly, Encephalocele, Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Bilateral Polymicrogyria
Low-set ears, Cerebellar atrophy, Wide mouth, Facial diplegia, Abnormal glossopharyngeal nerve mo... ORPHA:268940
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Thick vermilion... OMIM:618651
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Secundum atrial septal defect, Cerebellar atrophy, Narrow mouth, Protruding tongue,... OMIM:608779
Joubert Syndrome 2
Low-set ears, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Hypoplasia o... OMIM:608091
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Ab... ORPHA:1926
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila... OMIM:610688
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Ventriculomegaly, Abnormal cerebellum morphology ORPHA:255182
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Ventricular septal defect, Low posterior hairline, Short neck... OMIM:617506
Holoprosencephaly 13, X-Linked
Low-set ears, Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hear... OMIM:301043
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Primary Ciliary Dyskinesia
Abnormal sperm motility, Conductive hearing impairment, Hearing impairment, Atrial situs ambiguou... ORPHA:244
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Megarectum, Arthrogryposis multiplex congenita, Hearing impairment, Large earlobe, ... OMIM:301056
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tracheomalacia, Tetralogy of Fallot, Abnormal heart morphol... ORPHA:95430
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Tetralo... ORPHA:3186
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Neo... OMIM:611890
Joubert Syndrome 35
Low-set ears, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth s... OMIM:618161
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Joint stiffness, Abnormal lower lip morphology, Abnormal aor... ORPHA:1166
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy OMIM:215470
Holoprosencephaly 14
Low-set ears, Alobar holoprosencephaly, Cerebellar atrophy, Cleft lip, Gray matter heterotopia, P... OMIM:619895
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... ORPHA:980
Joubert Syndrome 31
Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Linear Skin Defects With Multiple Congenital Anomalies 1
Hearing impairment, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventric... OMIM:309801
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Abnormal heart morphology, Sensorineural hea... ORPHA:314588
Joubert Syndrome 10
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Molar tooth sign on MRI OMIM:300804
De Barsy Syndrome
Low-set ears, Prominent veins on trunk, Narrow mouth, Excessive wrinkled skin, Ventricular septal... ORPHA:2962
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, A... ORPHA:370959
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Mo... ORPHA:2318
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Hearing impairment, Stiff neck, Vertigo, Limb pain, Abnorm... ORPHA:297
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate, Encephalocele, Dandy-Walker malformation ORPHA:217
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Delayed skeletal maturation, Thick lower lip vermilion, Te... OMIM:612946
Feingold Syndrome Type 1
Interrupted aortic arch, Conductive hearing impairment, Duodenal atresia, Abnormal heart morpholo... ORPHA:391641
Spinocerebellar Ataxia Type 2
Spinal cord posterior columns myelin loss, Abnormal substantia nigra morphology, Abnormality of t... ORPHA:98756
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Open mouth, Sensorineural hearing... ORPHA:1600
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Narrow mouth, Mitral valve prol... OMIM:180849
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Mo... ORPHA:220497
Williams Syndrome
Synostosis of joints, Carious teeth, Chiari malformation, Open bite, Genu valgum, Death in early ... ORPHA:904
Hoxha-Aliu Syndrome
Low-set ears, Webbed neck, Osteopenia, Cupped ear, Delayed skeletal maturation, Wormian bones, Pe... OMIM:620662
Ogden Syndrome
Low-set ears, Everted upper lip vermilion, Delayed cranial suture closure, Recurrent otitis media... OMIM:300855
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Double outlet right ventricle, Hydrocephalus, Atrial ... OMIM:614886
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Joubert Syndrome 7
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Joint hypermobility, Ventricular septal defect, Coarctation of aorta, Transp... ORPHA:261243
Feingold Syndrome 1
Interrupted aortic arch, Low-set ears, Hearing impairment, Duodenal atresia, Thick vermilion bord... OMIM:164280
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Redundant neck skin, Upper limb pain, Acrocyanosis, Cleft palate ORPHA:2901
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Charge Syndrome
Low-set ears, Sensorineural hearing impairment, Ventricular septal defect, Overriding aorta, Radi... OMIM:214800
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Delayed brainstem auditory e... ORPHA:206448
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Isolated Klippel-Feil Syndrome
Webbed neck, Hearing impairment, Abnormal cranial nerve morphology, Congenital muscular torticoll... ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Umbilical hernia... OMIM:617751
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Congenital Gerbode Defect
Bacterial endocarditis, Ankle swelling, Ventricular septal defect, Constrictive pericarditis, Per... ORPHA:99095
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Tracheomalacia, Tetr... OMIM:618280
You-Hoover-Fong Syndrome
Hearing impairment, Coarctation of aorta, Double aortic arch, Cleft palate, Vascular ring, Access... OMIM:616954
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Sensorineural hea... ORPHA:356961
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Low-set ears, Aortic valve stenosis, Hearing impairment, Ventricular septal defect, Bicuspid aort... OMIM:618164
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Narrow mouth, Coarctation of aorta, Atrial septal defect, Thin vermi... OMIM:615502
Mullegama-Klein-Martinez Syndrome
Low-set ears, Hypoplastic left heart, Bifid uvula, Cleft lip, Submucous cleft of soft and hard pa... OMIM:301022
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Everted upper lip vermilion, Widely spaced teeth, Recurrent otitis media, Absent ... ORPHA:513456
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Mo... ORPHA:220493
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Sensorineural hearing impairment, Bicuspid aortic valve, Short neck, Atrial septal ... OMIM:612474
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Joubert Syndrome 1
Low-set ears, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the c... OMIM:213300
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Sensorineural hearing... ORPHA:17
Machado-Joseph Disease Type 3
Abnormal vestibular function, Cerebellar atrophy, Spinocerebellar tract degeneration, Dilated fou... ORPHA:276244
Joubert Syndrome 37
Low-set ears, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Molar tooth sign on MRI OMIM:619185
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle... OMIM:619306
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypop... ORPHA:2257
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Cutis marmorata, Protr... OMIM:612938
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Hydranencephaly, Hypoplasia of the brainstem, Neonatal death, Cerebellar hypoplasia... OMIM:236500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Widely-spaced maxillary central incisors, Diastema, Umbilical hernia, Thick lower l... OMIM:301040
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Occipi... OMIM:616546
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Lateral ventricle dilatation, Cerebellar atrophy, Hypoplasia of th... ORPHA:300573
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta, Generalized osteosclerosis, Accelerated skeletal ... OMIM:215045
Maternal Phenylketonuria
Hypoplastic helices, Hypoplastic left heart, Long philtrum, Tetralogy of Fallot, Abnormal heart m... ORPHA:2209
Down Syndrome
Shallow acetabular fossae, Protruding tongue, Ventricular septal defect, Atrial septal defect, An... OMIM:190685
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Joint stiffness, Abnormal aortic morphology, Truncus arteriosus... ORPHA:2516
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Cerebellar vermis hypoplasia, High, narrow palate, Hearing impairment, Long philtru... OMIM:618494
Perlman Syndrome
Interrupted aortic arch, Low-set ears, Distal ileal atresia, Everted upper lip vermilion, Volvulu... OMIM:267000
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Umbilical hernia, Recurrent otitis media, Congenital sensorineural h... ORPHA:500159
Distal Deletion 15Q
Low-set ears, Abnormal aortic arch morphology, Hip dislocation, Hypoplastic left heart, Abnormali... ORPHA:1596
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Dysgenesis... ORPHA:397715
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Cerebellar atrophy, Duodenal atresia, Atrioventricular c... OMIM:270100
47,Xyy Syndrome
Low-set ears, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Abnormal brainstem morph... ORPHA:8
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit... OMIM:128980
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Congenital sen... ORPHA:96148
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Giant Cell Arteritis
Vasculitis, Optic atrophy, Conductive hearing impairment, Aortic dissection, Double outlet right ... ORPHA:397
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Recurrent otitis media, Mitral a... OMIM:620570
Lateral Meningocele Syndrome
Low-set ears, Ventricular septal defect, Bicuspid aortic valve, Short neck, High palate, Patent d... OMIM:130720
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
X-Linked Intellectual Disability, Nascimento Type
Broad neck, Peripheral pulmonary artery stenosis, Hearing impairment, Hypoplasia of the pons, Dow... ORPHA:163956
Frank-Ter Haar Syndrome
Low-set ears, Delayed cranial suture closure, Mitral valve prolapse, Ventricular septal defect, A... OMIM:249420
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Craniofacial Microsomia 1
Occipital encephalocele, Atresia of the external auditory canal, Chiari malformation, Unilateral ... OMIM:164210
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Digeorge Syndrome
Interrupted aortic arch, Low-set ears, Right aortic arch with mirror image branching, High, narro... OMIM:188400
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Sensorineural hearing impairment, Contracture of th... OMIM:300166
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Tarp Syndrome
Optic atrophy, Prominent antihelix, Hearing impairment, Tongue nodules, Tetralogy of Fallot, Low-... ORPHA:2886
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent crus of helix,... ORPHA:261311
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Abnormal brainstem morpho... ORPHA:467166
8P23.1 Duplication Syndrome
Hearing impairment, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilio... ORPHA:251076
Intellectual Developmental Disorder, X-Linked 112
Cupped ear, Volvulus, Abnormal heart morphology, Right aortic arch, Joint hypermobility, Madelung... OMIM:301111
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Abnormality of the autonomic nervous system, Me... OMIM:611376
3C Syndrome
Low-set ears, Aortic valve stenosis, Abnormal mitral valve morphology, Ventricular septal defect,... ORPHA:7
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Narrow mouth, Ventricular septal defect, Short n... ORPHA:567
Fetal Trimethadione Syndrome
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Ventricular septal defect, Transpos... ORPHA:1913
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Webbed neck, Cleft lip, Cupped ear, Contracture of the proximal interphalangeal joi... OMIM:618223
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Situs inversus totalis... ORPHA:1908
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Osteogenesis Imperfecta, Type I
Osteopenia, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Bruising susceptibility,... OMIM:166200
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defect, Agenesi... OMIM:601322
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Death in infancy, Cyanotic episode OMIM:610992
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Stiff neck, Verti... ORPHA:268882
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Open mouth, Ventricular septal defect, Everted lower lip vermilion... OMIM:280000
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cerebellar vermis hypoplasia, Knee flexion contracture, Short neck, Cy... ORPHA:284417
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricu... OMIM:617992
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Verheij Syndrome
Branchial cyst, Long philtrum, Joint hypermobility, Truncus arteriosus, Ventricular septal defect... OMIM:615583
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hearing impai... ORPHA:2720
Congenital Heart Block
Endocardial fibroelastosis, Cyanosis, Patent foramen ovale, Pericardial effusion, Patent ductus a... ORPHA:60041
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Dilated ... ORPHA:261183
Warsaw Breakage Syndrome
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Cutis marmorata, Ventri... OMIM:613398
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Downturned corners of mouth, Long philtrum, Thic... OMIM:220500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm... OMIM:136760
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
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Fumarase Deficiency
Optic atrophy, Polymicrogyria, Reduced subcutaneous adipose tissue, Perimembranous ventricular se... OMIM:606812
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Encephalocele, Molar tooth sign on MRI, Ap... OMIM:216360
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Low-set ears, Inferior cerebellar vermis hypoplasia, Ventriculomega... ORPHA:444072
Symphalangism, Proximal, 1A
Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Carpal synostosis... OMIM:185800
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus, Cleft palate OMIM:601355
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Abnormal pons morp... ORPHA:370997
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Aortic Arch Interruption
Abnormal heart morphology, Cyanosis, Truncus arteriosus, Ventricular septal defect, Bicuspid aort... ORPHA:2299
Otofaciocervical Syndrome 1
Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea, Conductive hearing impairment OMIM:166780
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Limited neck ra... OMIM:214300
Tetrasomy 5P
Low-set ears, Long philtrum, Cyanosis, Redundant neck skin, Cerebellar hypoplasia, Short neck, Hy... ORPHA:3309
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Narrow mouth, Sensorineural hearing impairment, Ventricular septal defect, Telangie... OMIM:612582
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary ... ORPHA:3427
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Cyanosis, Hydrocephalus, Spina bifida... OMIM:207950
Oculofaciocardiodental Syndrome
Tooth malposition, Hearing impairment, Genu valgum, Mitral valve prolapse, Sensorineural hearing ... ORPHA:2712
Benign Schwannoma
Peripheral schwannoma, Vertigo, Schwannoma, Abnormal cranial nerve morphology, Hearing abnormalit... ORPHA:252164
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Limited neck range of motion, Proximal/middle sy... OMIM:184460
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Radioulnar synostosis, Sho... ORPHA:798
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Spinal dysraphism, Sensorineural hearing impairment OMIM:617660
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Toriello-Carey Syndrome
Low-set ears, Hearing impairment, Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, An... ORPHA:3338
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Sensorin... ORPHA:2590
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
German Syndrome
Limitation of joint mobility, Camptodactyly of finger, Tetralogy of Fallot, Hearing abnormality, ... ORPHA:2077
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Joubert Syndrome 38
Low-set ears, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth si... OMIM:619476
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Chiari malformation, Anteriorly placed... OMIM:617159
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Long philtrum, Thick lower lip vermilion, Joint contracture of the 5th finge... OMIM:614407
Lennox-Gastaut Syndrome
Vertigo, Abnormal brainstem morphology ORPHA:2382
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Atrioventricular canal defect, Abnormal aortic valve morphology, Death... ORPHA:1120
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Abnormal earlobe morphology, Duodenal atresia, Abnor... ORPHA:141127
Al-Gazali-Bakalinova Syndrome
Low-set ears, Molar tooth sign on MRI OMIM:607131
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Sensorineural hearing imp... ORPHA:353281
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Optic atrophy, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Cere... OMIM:253800
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Kapur-Toriello Syndrome
Low-set ears, Atresia of the external auditory canal, Polymicrogyria, Tetralogy of Fallot, Intest... ORPHA:2328
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Tracheomalacia, Cleft upper lip, Tetralogy of Fallot, Mitra... OMIM:612561
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Cyanosis, Transposi... ORPHA:1461
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Alkuraya-Kucinskas Syndrome
Low-set ears, Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hyp... OMIM:617822
Transaldolase Deficiency
Low-set ears, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of aor... OMIM:606003
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, He... OMIM:601596
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Hearing impairment, Atresia of the external auditory canal, Sensorineural ... OMIM:601808
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Aortic valve stenosis, High, narrow palate, Bifid uvula, Conductive hearing impairm... ORPHA:2780
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Low-set ears, Cupped ear, Hearing impairment, Optic disc coloboma, Sensorineural hearing impairme... ORPHA:52055
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Ventricular septal de... OMIM:619534
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Recombinant 8 Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Patellar aplasia, Abnormality of ... ORPHA:96167
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Open mouth, High pa... ORPHA:79500
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Recurrent otitis media, Cleft soft palate, Narrow mouth, Reduced subcutan... OMIM:619503
8P23.1 Microdeletion Syndrome
Low-set ears, Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atriovent... ORPHA:251071
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Open mouth, Patent foramen ovale, Short neck, Transposition of the great arteries, ... OMIM:616789
Orofaciodigital Syndrome Xvi
Low-set ears, Ventriculomegaly, Molar tooth sign on MRI OMIM:617563
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Lip discoloration ORPHA:621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Death in infa... OMIM:613150
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Weiss-Kruszka Syndrome
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th... OMIM:618619
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Frontotemporal Dementia With Motor Neuron Disease
Bilateral sensorineural hearing impairment, Abnormal upper motor neuron morphology, Abnormal lowe... ORPHA:275872
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Macrotia, Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Stillbirth, Dandy-Walker... OMIM:616300
Postsynaptic Congenital Myasthenic Syndromes
Decreased size of nerve terminals, High palate, Facial palsy, Cyanosis ORPHA:98913
Multiple Synostoses Syndrome 1
Asymmetry of the mouth, Bilateral conductive hearing impairment, Conductive hearing impairment, S... OMIM:186500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot,... OMIM:600460
Ververi-Brady Syndrome
Low-set ears, Cupped ear, Delayed skeletal maturation, Thin upper lip vermilion, Smooth philtrum,... OMIM:617982
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
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
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Low-set ears, Ventriculomegaly, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation... OMIM:619479
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Hearing impairment, Camptodactyly of finger, Joint st... ORPHA:896
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Paucity of anterior horn moto... ORPHA:79139
Tarp Syndrome
Low-set ears, Optic atrophy, Cerebellar vermis hypoplasia, Prominent antihelix, Subdural hemorrha... OMIM:311900
Pseudotrisomy 13 Syndrome
Low-set ears, Cleft upper lip, Polymicrogyria, Median cleft palate, Encephalocele, Complete atrio... OMIM:264480
Esophageal Atresia
Barrett esophagus, Cleft lip, Hearing impairment, Tetralogy of Fallot, Intestinal malrotation, Es... ORPHA:1199
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Abnormal aortic morphology, Bilateral cleft palat... ORPHA:2001
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ... OMIM:617168
Phace Association
Optic atrophy, Arterial stenosis, Ventricular septal defect, Cerebellar hypoplasia, Aortic aneury... OMIM:606519
Cerebellofaciodental Syndrome
Low-set ears, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hy... OMIM:616202
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin... ORPHA:648
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Narrow mouth, Ventricular septal defect, Short neck, Atrial septal defect, Hypert... ORPHA:96334
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Prominent metopic ridge, Joint hypermobility, Hydrocephalus, Hypoplastic aortic arch,... ORPHA:457284
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m... ORPHA:740
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Osteomalacia... ORPHA:51608
Fanconi Anemia, Complementation Group B
Low-set ears, Duodenal atresia, Death in infancy, Ventricular septal defect, Cerebellar hypoplasi... OMIM:300514
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Orofaciodigital Syndrome V
Low-set ears, Bifid uvula, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ankylogl... OMIM:174300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Joubert Syndrome 5
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... OMIM:610188
Mucopolysaccharidosis Type 2
Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineural hearing impairment,... ORPHA:580
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Hearing impairment ORPHA:314621
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Thakker-Donnai Syndrome
Webbed neck, Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Ventricular septal d... ORPHA:1780
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Open mouth, Ventricular septal defect, Bicuspid ao... ORPHA:453499
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... ORPHA:98755
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Intestinal ma... OMIM:605376
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Dysplastic aortic valve, Cleft maxillary a... ORPHA:508488
Holt-Oram Syndrome
Elbow dislocation, Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Radioulna... OMIM:142900
Isotretinoin Embryopathy-Like Syndrome
Anotia, Conotruncal defect, Hydrocephalus, Cleft palate, Microtia OMIM:243440
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Chiari malformation, Generalized arterial to... OMIM:610168
Acrocardiofacial Syndrome
Low-set ears, Joint dislocation, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot, M... ORPHA:2008
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis... OMIM:620067
Aase-Smith Syndrome I
Open mouth, Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Clef... OMIM:147800
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great art... OMIM:619910
Arima Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Brainstem dy... OMIM:243910
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Sensorineur... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Sensorineur... ORPHA:353277
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Tetralogy o... ORPHA:2316
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Limitation of joint mobility, Recurrent aphthous stomatitis, Intestinal obs... ORPHA:343
Orofaciodigital Syndrome Vi
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Occipital meningocele,... OMIM:277170
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Pallister-Hall Syndrome
Hip dislocation, Microglossia, Natal tooth, Atresia of the external auditory canal, Cleft upper l... OMIM:146510
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent otitis media, Situs inversus totalis, Atrial situs inversus, Ven... OMIM:615067
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... ORPHA:68
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Joint stiffness, Abnormal aortic morpholog... ORPHA:392
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Optic disc coloboma, Aplasia/Hypoplasia of the tongue, Narrow mouth, D... ORPHA:1790
Tetrasomy 9P
Abnormal earlobe morphology, Glue ear, Abnormal mitral valve morphology, Short neck, Dextrocardia... ORPHA:3310
Cat Eye Syndrome
Low-set ears, Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Mec... OMIM:115470
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
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
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyanosis, Cardiomegaly, Tricus... ORPHA:555874
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Mucopolysaccharidosis Type 2, Severe Form
Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineural hearing impairment,... ORPHA:217085
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Wolcott-Rallison Syndrome
Jaundice, Double outlet right ventricle, Atrial septal defect ORPHA:1667
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Knee osteoa... OMIM:619656
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Sensorineural hearing impairment ORPHA:3222
Chromosome 1P36 Deletion Syndrome, Proximal
Low-set ears, Dilated cardiomyopathy, Cleft lip, Coronary artery fistula, Biventricular hypertrop... OMIM:619343
Diamond-Blackfan Anemia 7
Osteopenia, Secundum atrial septal defect, Atresia of the external auditory canal, Hearing impair... OMIM:612562
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid ... ORPHA:91387
Branchiootic Syndrome
Abnormality of the outer ear, Branchial fistula, Atresia of the external auditory canal, Hearing ... ORPHA:52429
Histiocytoid Cardiomyopathy
Optic atrophy, Cerebellar malformation, Stroke-like episode, Cyanosis, Ventricular septal defect,... ORPHA:137675
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Med... ORPHA:2919
Mucopolysaccharidosis Type 2, Attenuated Form
Limitation of joint mobility, Abnormal mitral valve morphology, Sensorineural hearing impairment,... ORPHA:217093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Ventriculomegaly, Occipital encephalocele, Atresia of the external auditory canal, ... OMIM:236670
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Ventricular septal defect, Neonatal death, Short nec... OMIM:256520
17Q24.2 Microdeletion Syndrome
Broad neck, Tooth malposition, Otosclerosis, Abnormality of the ankle, Recurrent otitis media, Ab... ORPHA:529962
Congenital Pulmonary Lymphangiectasia
Cyanosis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Acitretin/Etretinate Embryopathy
Cupped ear, Atrioventricular canal defect, Conotruncal defect, Median cleft palate, Antecubital p... ORPHA:40366
Autosomal Recessive Robinow Syndrome
Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Open bite, Ankyloglossia, Vent... ORPHA:1507
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Multiple gastric po... OMIM:225750
Congenital Fibrinogen Deficiency
Gingival bleeding, Bruising susceptibility, Volvulus, Subcutaneous hemorrhage, Cyanosis, Left ven... ORPHA:335
Holoprosencephaly
Encephalocele, Abnormal antihelix morphology, Ventricular septal defect, Short neck, Holoprosence... ORPHA:2162
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Abnormal heart morphology, Cyanosis, Pulmonary arterioveno... ORPHA:268943
Gangliocytoma
Syringomyelia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Spinal cord tumor ORPHA:251937
Down Syndrome
Narrow mouth, Open mouth, Protruding tongue, Ventricular septal defect, Short neck, Round ear, Ce... ORPHA:870
Zimmermann-Laband Syndrome 1
Low-set ears, Aortic root aneurysm, Delayed eruption of teeth, Hearing impairment, Umbilical hern... OMIM:135500
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Breath-Holding Spells
Cyanosis OMIM:607578
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Meckel Syndrome 14
Low-set ears, Occipital encephalocele, Increased nuchal translucency, Cyanosis, Decreased calvari... OMIM:619879
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Ventricular septal defect, Atrial septa... OMIM:300373
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Congenital Myasthenic Syndrome
Low-set ears, Congenital hip dislocation, Cyanosis, Frontalis muscle weakness, Joint hypermobilit... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Congenital hip dislocation, Cyanosis, Frontalis muscle weakness, Joint hypermobilit... ORPHA:98914
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Renal cyst, Sensorineural hearing impairment ORPHA:18
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Opitz Gbbb Syndrome
Low-set ears, Aortic root aneurysm, Natal tooth, Hearing impairment, Ankyloglossia, Ventricular s... ORPHA:2745
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta... ORPHA:183
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Conductive hearing impairment, ... OMIM:257920
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Dextrotransposition of the great arteries, Ventricular septal defect, Ank... OMIM:619995
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow palate, Conductive hearing impairme... OMIM:614188
Orofaciodigital Syndrome Xiv
Low-set ears, Cerebellar vermis hypoplasia, Occipital encephalocele, Cerebellar hypoplasia, Molar... OMIM:615948
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Foam cells ORPHA:747
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Tracheoesophag... OMIM:314390
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Sialadenitis, Eosino... ORPHA:449563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Misalignment of the pulmonary veins, Neonatal death OMIM:265120
Asbestos Intoxication
Cor pulmonale, Oxygen desaturation on exertion, Cyanosis, Hypoxemia, Myocardial fibrosis ORPHA:2302
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Hearing impairment, Downturned corners of mouth, Tetralogy of Fallot, Cono... ORPHA:96147
Kawasaki Disease
Vasculitis, Strawberry tongue, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:2331
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi... ORPHA:1923
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, M... ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Bifid uvula, Cupped ear, Dermatographic urticaria, Atrioventricular canal defect, T... OMIM:619480
Full Nf2-Related Schwannomatosis
Myelopathy, Brain stem compression, Bilateral vestibular schwannoma, Abnormal cerebellum morpholo... ORPHA:637
Thoracoabdominal Syndrome
Cleft upper lip, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Cystic hygro... OMIM:313850
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Mitral valve prolapse, Fragile skin, Patellar dislocati... ORPHA:287
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Coronal craniosynostosis, Pyloric stenosis, Contracture of the distal interphalange... ORPHA:83617
Meckel Syndrome, Type 1
Low-set ears, Ventriculomegaly, Chiari malformation, Occipital encephalocele, Dilated fourth vent... OMIM:249000
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Limitation of joint mobility, Elbow dislocation, Mitral valve prolapse, Rec... ORPHA:285
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... OMIM:610655
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, O... ORPHA:1335
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Abnormal ... ORPHA:2847
Dravet Syndrome
Limited neck range of motion, Limited knee extension, Cyanotic episode ORPHA:33069
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ... ORPHA:210122
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove... ORPHA:2038
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Hip dislocation, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:154400
Gaucher Disease, Type Ii
Double aortic arch, Death in infancy OMIM:230900
Atrial Septal Defect, Coronary Sinus Type
Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo... ORPHA:99104
Duane Retraction Syndrome
Hearing impairment, Narrow internal auditory canal, Stenosis of the external auditory canal, Sens... ORPHA:233
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Ec... ORPHA:2473
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Hyperoxaluria, Primary, Type I
Optic atrophy, Pathologic fracture, Cutis marmorata, Peripheral arterial stenosis, Increased bone... OMIM:259900
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hearing impairment, Patent ductus arteriosus, Downturned corners of mouth, Low-set, posteriorly r... ORPHA:487796
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Hearing impairment, Tetralogy of Fallot, Dilated fourth ventricle, ... OMIM:619869
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Protruding tongue, Cerebellar atrophy, Hearing impairment OMIM:619580
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Joint dislocatio... OMIM:300989
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
High Altitude Pulmonary Edema
Vertigo, Hypoxemia, Cyanosis ORPHA:330012
Chime Syndrome
Abnormality of the outer ear, Erythema, Abnormality of the dentition, Hearing impairment, Osteoly... ORPHA:3474
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Situs inversus totalis, Encep... ORPHA:991
Idiopathic Camptocormia
Syringomyelia, Abnormal pons morphology, Myelitis, Amyotrophic lateral sclerosis ORPHA:1320
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Intervertebral disk degeneration, Knee osteoarthritis, Dilatation of t... ORPHA:284984
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Kleefstra Syndrome 1
Natal tooth, Hearing impairment, Persistence of primary teeth, Conotruncal defect, Protruding ton... OMIM:610253
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Arteriovenous fistu... OMIM:187300
Treacher-Collins Syndrome
Conductive hearing impairment, Branchial fistula, Narrow internal auditory canal, Encephalocele, ... ORPHA:861
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cyanosis... OMIM:252010
Acquired Methemoglobinemia
Vertigo, Hypoxemia, Cyanosis ORPHA:464453
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Tetraamelia Syndrome 2
Low-set ears, Ankyloglossia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonar... OMIM:618021
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
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Sensorineural hearing impairment, Ventric... OMIM:607872
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Joint stiffness, Acrocyanosis ORPHA:2400
Norrie Disease
Optic atrophy, Abnormal helix morphology, Sensorineural hearing impairment, Protruding ear, Aplas... ORPHA:649
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:614823
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Hypoxemia, Abnormal pulmonary vein morphology, Cyanosis ORPHA:199241
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Cleft lip, Natal tooth, Tetralogy of Fallot, Hamartoma of tongue, Complete atrioven... OMIM:617925
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy OMIM:614298
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:1393
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Elbow dislocation, Death in childhood, Hip contrac... OMIM:210710
Mosaic Variegated Aneuploidy Syndrome
Hearing impairment, Duodenal atresia, Low-set, posteriorly rotated ears, Increased nuchal translu... ORPHA:1052
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Cyanosis, Left atrial enlargement, Left ventricular hypertrophy, Rig... ORPHA:99106
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... OMIM:613795
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Loeys-Dietz Syndrome 1
Low-set ears, Aortic root aneurysm, Chiari malformation, Mitral valve prolapse, Bicuspid aortic v... OMIM:609192
Fucosidosis
Abnormality of the dentition, Hearing impairment, Vascular skin abnormality, Cardiomegaly, Acrocy... ORPHA:349
Acute Interstitial Pneumonia
Pericardial effusion, Hypoxemia, Cyanosis ORPHA:79126
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis, Arthritis ORPHA:3165
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Eisenmenger Syndrome
Bacterial endocarditis, Tetralogy of Fallot, Vertigo, Abnormal heart morphology, Atrioventricular... ORPHA:97214
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Stippled calcification in carpal bones, Calcification of the aor... ORPHA:60025
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, C... OMIM:261740
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Polymicrogyria, Tetralogy of Fall... OMIM:100300
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Fanconi Anemia
Arteriovenous malformation, Hearing impairment, Aplasia/Hypoplasia of the uvula, Atrial septal de... ORPHA:84
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the frontal bone, Conductive hearing impai... ORPHA:306542
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cerebral artery mo... ORPHA:42775
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Low-set, posteriorly rotated ears, Dilated fourth ventricle, Molar tooth... ORPHA:434179
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Bowing of limbs due to multiple frac... OMIM:166220
Pitt-Hopkins Syndrome
Tooth malposition, Abnormal helix morphology, Failure of eruption of permanent teeth, Esophagitis... ORPHA:2896
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Restrictive Dermopathy 2
Cyanosis, Rectal prolapse OMIM:619793
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral art... OMIM:600376
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... OMIM:618748
Aicardi-Goutières Syndrome
Low-set ears, Moyamoya phenomenon, Hypertrophic cardiomyopathy, Cutis marmorata, Calcification of... ORPHA:51
Multiple Mitochondrial Dysfunctions Syndrome 7
Gingival overgrowth, Open mouth, Partial atrioventricular canal defect, Cyanosis, Ankle clonus OMIM:620423
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Pulmonary artery aneurysm, Right ventricular dilatation, Aortic root aneurysm, Pulm... OMIM:614437
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar hypoplasia, Abnormal brainstem morphology, Cerebellar atrophy OMIM:301310
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Abnormal sensory nerve conduction velocity, Axonal degeneration, Flexion contractu... ORPHA:88628
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis OMIM:617898
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Primary Hyperoxaluria
Optic atrophy, Abnormality of the dentition, Abnormal dental pulp morphology, Cardiomyopathy, Cut... ORPHA:416
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Cyanosis, Sensorineural hearing impairment ORPHA:488627
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Joint dislocation, Aortic dissection, Bruising susceptibility, ... ORPHA:60030
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Acrocyanosis ORPHA:1867
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Lymphedema-Distichiasis Syndrome
Webbed neck, Cleft upper lip, Tetralogy of Fallot, Ventricular septal defect, Varicose veins, Cys... OMIM:153400
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Plethora, Papilledema, P... ORPHA:2905
Necrotizing Enterocolitis
Abnormal heart morphology, Cyanosis ORPHA:391673
Specc1L-Related Hypertelorism Syndrome
Low-set ears, Abnormal helix morphology, Long philtrum, Umbilical hernia, Tetralogy of Fallot, Ve... ORPHA:1519
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Restrictive Dermopathy
Low-set ears, Webbed neck, Osteopenia, Microcolon, Natal tooth, Camptodactyly of finger, Small pl... ORPHA:1662
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis marmorata, I... ORPHA:48435
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Cardiomyopathy ORPHA:159
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
1P36 Deletion Syndrome
Delayed cranial suture closure, Narrow mouth, Abnormality of the neck, Sensorineural hearing impa... ORPHA:1606
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... ORPHA:402075
Juvenile Amyotrophic Lateral Sclerosis
Abnormal cerebellum morphology, Amyotrophic lateral sclerosis ORPHA:300605
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Sepsis In Premature Infants
Cyanosis, Petechiae, Enterocolitis, Jaundice, Purpura ORPHA:90051
Carpenter Syndrome 2
Low-set ears, Carious teeth, Sensorineural hearing impairment, Short neck, Atrial septal defect, ... OMIM:614976
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right atrial enlar... ORPHA:99103
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... ORPHA:168563
Cog1-Cdg
Broad neck, Osteopenia, Cerebellar vermis hypoplasia, Long philtrum, Low-set, posteriorly rotated... ORPHA:263508
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99413
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:881
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... ORPHA:99226
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis, Death in infancy, Neonatal death OMIM:610921
Ethylene Glycol Poisoning
Gastritis, Facial palsy, Cyanosis ORPHA:31826
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Radioulnar synostosis, A... OMIM:192350
Choanal Atresia
Cyanosis, Craniosynostosis, Tracheomalacia ORPHA:137914
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hearing impairment, Ventricular septal defect, Atrial septal de... OMIM:312870
Familial Dysautonomia
Optic atrophy, Osteolysis, Orthostatic hypotension, Acrocyanosis, Recurrent fractures, Avascular ... ORPHA:1764
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Sensorineural hearing impairment ORPHA:293987
Beckwith-Wiedemann Syndrome
Otosclerosis, Chiari malformation, Hearing impairment, Abnormal earlobe morphology, Umbilical her... ORPHA:116
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Neuropathic arthropathy, Acrocyanos... OMIM:223900
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Floating-Harbor Syndrome
Low-set ears, Conductive hearing impairment, Renal cyst, Epididymal cyst, Polycystic kidney dyspl... ORPHA:2044
Dermatomyositis
Vasculitis, Abnormal eosinophil morphology, Chondrocalcinosis, Erythema, V-sign, Shawl sign, Gast... ORPHA:221
Coffin-Lowry Syndrome
Narrow palate, Dental malocclusion, Hearing impairment, Delayed skeletal maturation, Thick lower ... OMIM:303600
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Sensorineural hearing impairment OMIM:615911
Otosclerosis 10
Otosclerosis OMIM:615589
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cerebellar atrophy, Cyanosis, Death in childhood OMIM:618426
Myasthenia Gravis
Rheumatoid arthritis, Acrocyanosis, Hearing impairment ORPHA:589
Cardiogenic Shock
Vertigo, Cyanosis, Hypoxemia ORPHA:97292
Semilobar Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Sensorineural hearing impairment ORPHA:220386
Alobar Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Sensorineural hearing impairment ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Sensorineural hearing impairment ORPHA:93926
Lobar Holoprosencephaly
Abnormal brainstem morphology, Hydrocephalus, Neural tube defect, Sensorineural hearing impairment ORPHA:93924
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Wilson Disease
Face of the giant panda sign OMIM:277900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Abnormal brainstem morphology, Ventriculomegaly ORPHA:464311
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Myasthenic Syndrome, Congenital, 21, Presynaptic
Meconium ileus, Cyanosis, Knee flexion contracture OMIM:617239
Proteus Syndrome
Low-set ears, Narrow internal auditory canal, Exostosis of the external auditory canal, Sirenomel... ORPHA:744
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Goodpasture Syndrome
Cyanosis OMIM:233450

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 Gbx2

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 Gbx2.

No publications found that use IMPC mice or data for Gbx2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gbx2tm94073(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Gbx2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gbx2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gbx2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gbx2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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