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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 Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
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
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... OMIM:231060
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Ventricul... ORPHA:860
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cyanosis, Patent ductus arteriosus, Macrotia, Protrud... ORPHA:3304
Heart And Brain Malformation Syndrome
Attached earlobe, Prominent metopic ridge, Cerebellar vermis hypoplasia, Ventricular septal defec... OMIM:616920
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal cochlea morphology, Sensorineural hearing impairme... ORPHA:231169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Severe sensorineural hearing impairment, Ventriculomegaly, ... OMIM:604213
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Thin upper lip vermilion, Decreased number of peripheral myelinated nerve fibers, O... ORPHA:477817
22Q11.2 Duplication Syndrome
Ventricular septal defect, Cleft palate, Anterior creases of earlobe, Hypoplastic left heart, Tra... ORPHA:1727
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Atrial septal defect, Patent foramen ovale, Joint laxity, Delayed ... OMIM:157800
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Conductive heari... OMIM:617877
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... OMIM:602588
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inver... OMIM:616749
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Overriding aorta, Carious teeth, Abnormal aortic arch morpholo... ORPHA:1110
Tricuspid Atresia
Atrial septal defect, Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of ri... ORPHA:1209
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears OMIM:300804
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Ventriculomegaly, Cerebellar vermis hypoplasia, Low-set ears OMIM:617127
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:601927
Velocardiofacial Syndrome
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... OMIM:192430
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Abnormality of the... OMIM:179613
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Holoprosencephaly, Aplasia/... ORPHA:990
Glossopharyngeal Neuralgia
Vascular dilatation, Ear pain, Cranial nerve compression, Schwannoma, Chiari type I malformation,... ORPHA:221098
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl... OMIM:617622
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary arte... OMIM:618845
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery from the p... ORPHA:2326
Crouzon Syndrome
Hydrocephalus, Optic atrophy, Chiari malformation, Cerebellar hypoplasia, Conductive hearing impa... ORPHA:207
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage of external... ORPHA:3426
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect,... OMIM:608104
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot, Cleft palate, Low posterior hairli... OMIM:220210
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle morphol... OMIM:300845
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Intestinal malrotation, ... OMIM:618316
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria luso... ORPHA:99050
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Chiari type I malformation, Chronic otit... OMIM:101200
Lethal Congenital Contracture Syndrome 10
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, N... OMIM:617022
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Hearing impairment, Situs inversus totalis OMIM:617577
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r... OMIM:620294
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Phaver Syndrome
Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Co... ORPHA:2876
Bor Syndrome
Branchial cyst, Multicystic kidney dysplasia, Facial palsy, Abnormality of the middle ear ossicle... ORPHA:107
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Abnormal pinna morphology, Anencephaly, Cerebe... OMIM:614175
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... ORPHA:363444
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Apert Syndrome
Sensorineural hearing impairment, Hydrocephalus, Abnormal semicircular canal morphology, Optic at... ORPHA:87
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotate... ORPHA:163961
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Hearing impairment ORPHA:1705
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Snijders Blok-Campeau Syndrome
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal de... OMIM:618205
Marcus-Gunn Syndrome
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate, Abnorm... ORPHA:91412
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Alg3-Cdg
Osteopenia, Abnormal pinna morphology, Hypoplasia of the pons, Coarctation of the descending aort... ORPHA:79321
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Short neck, High, ... OMIM:158170
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph... ORPHA:2306
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Short neck, Muscular ventricular septal defect, Orofacial cleft, Perimem... OMIM:618804
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hydrocephalus, High palate, Low-se... OMIM:614846
Yuan-Harel-Lupski Syndrome
Joint laxity, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Decreas... OMIM:616652
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal defect, Pos... ORPHA:163979
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Hypoplasia of the brainstem, Occipital encephalocele, Cerebellar hypoplasia ORPHA:352682
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Patent ductus arte... OMIM:300712
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Charge Syndrome
Aqueductal stenosis, Hypoplasia of the semicircular canal, Abnormality of bone mineral density, H... ORPHA:138
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Sensorineural hearing impairment, Hydrocephalus, Joint hyperflexibility... ORPHA:250989
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... OMIM:113650
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Catel-Manzke Syndrome
Joint dislocation, Joint laxity, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft... OMIM:616145
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cerebel... OMIM:615181
Branchiooculofacial Syndrome
Short neck, Premature graying of hair, Conductive hearing impairment, Hypoplastic superior helix,... OMIM:113620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasi... OMIM:613153
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... OMIM:613155
Treacher Collins Syndrome 2
Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hearing impairment OMIM:613717
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... ORPHA:101070
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Optic ... OMIM:618164
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Vascular ring, Atrial septal ... OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Heart Defects, Congenital, And Other Congenital Anomalies
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated e... OMIM:614424
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Low... OMIM:608629
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect... OMIM:619657
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short n... ORPHA:508498
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Papilledema, Ventricular septal defect, Bicuspid aortic valve, Sclerotic... ORPHA:371428
Gorham-Stout Disease
Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Bilateral Polymicrogyria
Cerebellar atrophy, 4-layered lissencephaly, Sensorineural hearing impairment, Perisylvian polymi... ORPHA:268940
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Fryns Syndrome
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Tented upper lip vermilion, Median... ORPHA:2059
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis OMIM:614815
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Death in infancy, Neurogenic bladder, Protruding tongue, Short neck, Secundum... OMIM:608779
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Stapes ankylosis, Cutis marmorata, Intestinal malrotation, Velopharynge... OMIM:614701
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Halperin-Birk Syndrome
Flexion contracture, Hip dislocation, Optic atrophy, Semilobar holoprosencephaly, Perimembranous ... OMIM:618651
Joubert Syndrome 9
Molar tooth sign on MRI, Encephalocele, Ventriculomegaly OMIM:612285
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Perching Syndrome
Joint contracture, Cyanosis, High palate, Camptodactyly OMIM:617055
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot,... ORPHA:1926
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Sensorineural ... ORPHA:391641
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Heari... OMIM:301043
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Ventriculomegaly ORPHA:255182
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, Chiari type I malformation, High palate, Widely spaced teeth, Atrial s... OMIM:617506
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Posteriorly rotated ears, Craniosynostosis, Optic... OMIM:301056
Holoprosencephaly 14
Cerebellar atrophy, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aquedu... OMIM:619895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft lip, Overriding aorta, Abnormality of neuronal migration, Orofacial cleft, Atresia o... ORPHA:3186
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:608091
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Feingold Syndrome 1
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Hearing impairment, Posteriorly r... OMIM:164280
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft OMIM:617542
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Joint stiffness, Tetralogy of Fallot, Cleft palate, Protruding ear, To... ORPHA:1166
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Patent duc... ORPHA:95430
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Abnormal sperm motil... ORPHA:244
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Lo... OMIM:618161
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death, L... OMIM:611890
Tick-Borne Encephalitis
Stiff neck, Abnormal medulla oblongata morphology, Facial palsy, Vertigo, Abnormal cranial nerve ... ORPHA:297
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology OMIM:215470
Absence Of The Pulmonary Artery
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctatio... ORPHA:980
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Distal Triplication 15Q
Craniosynostosis, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Cupped ... ORPHA:314588
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,... OMIM:309801
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Rubinstein-Taybi Syndrome 1
Dental crowding, High, narrow palate, Flexion contracture, Aortic isthmus hypoplasia, High palate... OMIM:180849
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ear... OMIM:612946
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Joubert Syndrome With Oculorenal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hydrocephalus, Mo... ORPHA:2318
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Monosomy 18Q
Secundum atrial septal defect, Downturned corners of mouth, High palate, Short philtrum, Patent d... ORPHA:1600
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate ORPHA:217
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... ORPHA:370959
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Olivopontocerebellar hypoplasia, Spinal cord posterior colu... ORPHA:98756
De Barsy Syndrome
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Generalized joint laxity, P... ORPHA:2962
Joubert Syndrome With Renal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hydrocephalus, Mo... ORPHA:220497
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Congenital hip dislocation, Short neck, Cardiomegaly,... OMIM:300855
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ... ORPHA:2255
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal pr... ORPHA:904
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, Coronary sinus enlarge... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Flexion contracture, Sensorineural hearing impairment, Orofacial cleft,... ORPHA:17
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
16P13.11 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Joint hyperflexibility, Transp... ORPHA:261243
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Patent ductus arteriosus, Hyd... OMIM:614886
Charge Syndrome
Secundum atrial septal defect, Holoprosencephaly, Atrial septal defect, Pulmonary artery atresia,... OMIM:214800
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch, H... OMIM:616954
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Volvulus, Interrup... OMIM:267000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Cleft lip, Sensorineural hearing impairment, Cleft palate... OMIM:301022
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... ORPHA:2345
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Absent cupid's bow, Abnormality of the gi... ORPHA:513456
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Protruding ear, Widely spaced teeth, High palate, Atrial septa... OMIM:612474
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Joint laxity, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Vent... OMIM:617751
Congenital Gerbode Defect
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Perimembranous ventricular s... ORPHA:99095
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Narrow mouth, Patent ductus arteriosus, Cleft palate, Coarctation of ao... OMIM:615502
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Sensorineural hearing impairment, Lateral ventr... ORPHA:356961
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Joubert Syndrome With Ocular Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hydrocephalus, Mo... ORPHA:220493
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Generalized osteosclerosis, Advanced ossification of carpal bone... OMIM:215045
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Posteriorly rotated ears, Protruding tongue, Diastema, Sensorineural h... OMIM:301040
Digeorge Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cleft palate, Abnormali... OMIM:188400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears OMIM:619185
Down Syndrome
Redundant neck skin, Conductive hearing impairment, Atrial septal defect, Atrioventricular canal ... OMIM:190685
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cutis marmorata, Protruding tongue, Short neck, Patent ductus arterios... OMIM:612938
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Low-set ears, Multinucleated neur... OMIM:236500
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Coarctation of aorta, Abnormal heart morphology, H... ORPHA:2209
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal lower motor neuron morphology, Dilated fourth ventricle, Substantia ... ORPHA:276244
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Br... OMIM:213300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Joint stiffness, High, narrow palate, Cleft palate, Abnorm... ORPHA:2516
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Low-set ea... OMIM:616546
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Secundum atrial septal defect, Cleft palate, Patellar hypoplasia, Hypoxem... ORPHA:2257
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Abnormal brainstem morp... ORPHA:300573
Distal Deletion 10Q
Congenital sensorineural hearing impairment, Spina bifida occulta, Cochlear malformation, Protrud... ORPHA:96148
47,Xyy Syndrome
Hydrocephalus, Abnormal brainstem morphology, Low-set ears, Dysgenesis of the cerebellar vermis, ... ORPHA:8
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Distal Deletion 15Q
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Abnormality of the dentition, Do... ORPHA:1596
Frank-Ter Haar Syndrome
Osteopenia, Redundant neck skin, Secundum atrial septal defect, Protruding ear, High palate, Atri... OMIM:249420
Giant Cell Arteritis
Pericarditis, Joint stiffness, Vertigo, Vasculitis, Optic atrophy, Arthritis, Aortic dissection, ... ORPHA:397
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set, posteriorly rotated ears, Occipital encephalocele, Ventriculomegaly, Cerebellar vermis h... ORPHA:397715
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Lateral Meningocele Syndrome
Dental crowding, Bicuspid aortic valve, Short neck, Chiari type I malformation, High palate, Cond... OMIM:130720
Neuralgic Amyotrophy
Acrocyanosis, Cleft palate, Narrow mouth ORPHA:2901
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Congenital sensorineural hearing ... ORPHA:500159
Craniofacial Microsomia 1
Occipital encephalocele, Anotia, Conductive hearing impairment, Duplicated tragus, Cleft upper li... OMIM:164210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Posteriorly ro... OMIM:618494
Encephalocraniocutaneous Lipomatosis
Osteolysis, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupt... ORPHA:2396
Familial Aortic Dissection
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Muco... ORPHA:229
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... OMIM:619472
Tarp Syndrome
Low-set, posteriorly rotated ears, Cyanosis, Pierre-Robin sequence, Optic atrophy, Alveolar ridge... ORPHA:2886
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn... ORPHA:261311
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypoplasia of the pons, Patent foramen ovale, Deep philtrum, Patent du... ORPHA:163956
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Cleft lip, Patent ductus arteriosus, Cupped ear, Overfolded helix, Cleft palate, Narr... OMIM:618223
Microphthalmia, Syndromic 2
Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture... OMIM:300166
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... OMIM:611376
22Q11.2 Deletion Syndrome
Short neck, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Conductive hea... ORPHA:567
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
3C Syndrome
Short neck, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial sep... ORPHA:7
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Inte... OMIM:270100
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Ventriculome... ORPHA:467166
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... ORPHA:251076
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Short philtrum, Widely spaced teeth, Subvalvular aortic stenosis, Conductive he... OMIM:280000
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Aplasia/Hypoplasia o... ORPHA:1908
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... OMIM:617992
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Stiff neck, Myelopathy, Vertigo, Cranial nerve compressi... ORPHA:268882
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode OMIM:610992
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Hearing impairment, Mitral valve prolapse, Increas... OMIM:166200
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Low-set ears, Abnorm... ORPHA:1913
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion c... ORPHA:284417
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Cerebellar hypoplasia, Atrial septal defec... OMIM:601322
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Ventricular septal defect, Abnormal pinna morphology, Coarctation of ao... ORPHA:261183
Carpenter Syndrome 1
Short neck, High palate, Conductive hearing impairment, Atrial septal defect, Spina bifida occult... OMIM:201000
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Ventricular septal defe... OMIM:615583
Congenital Heart Block
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... ORPHA:60041
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology, Hearing impai... ORPHA:2720
Warsaw Breakage Syndrome
Ventricular septal defect, Cutis marmorata, Hypoplasia of the cochlea, Cupped ear, Optic disc col... OMIM:613398
Frontonasal Dysplasia 1
Median cleft lip, Conductive hearing impairment, Anterior basal encephalocele, Widely-spaced maxi... OMIM:136760
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar... OMIM:220500
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Vertigo, Abnormal brainstem morphology, Hearing impairment ORPHA:79279
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Optic atrophy, Perimembranous ven... OMIM:606812
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Conductive hearing impairmen... OMIM:185800
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... ORPHA:2299
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... ORPHA:370997
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural ... OMIM:214300
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Flexion c... ORPHA:2712
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Cardiac Valvular Dysplasia 1
Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste... OMIM:212093
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, K... OMIM:616531
Tetrasomy 5P
Redundant neck skin, Posteriorly rotated ears, Cyanosis, Short neck, Wide anterior fontanel, Hydr... ORPHA:3309
Toriello-Carey Syndrome
Aganglionic megacolon, Thickened helices, Abnormal pinna morphology, Short neck, Wide anterior fo... ORPHA:3338
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Prolonged brainstem auditory evoked potentials, Tongue atrophy, D... OMIM:601596
Schinzel-Giedion Syndrome
Short neck, Abnormality of the gingiva, Anteriorly placed anus, Chiari type I malformation, Short... ORPHA:798
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Spinal dysraphism, Incomplete partition of the cochlea type II OMIM:617660
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterot... OMIM:207950
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Limit... OMIM:184460
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmon... ORPHA:1120
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Pat... ORPHA:141127
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Ventricular septal defect, Patent ductus arteriosus, Cupped ear, Flat acetabular r... OMIM:617159
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Posteriorly... OMIM:612582
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Molar tooth sign on MRI, In... OMIM:619476
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Simplified gyral pattern, Prominent antihelix, Acrocyanosis, Joint con... OMIM:614407
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Posteriorly rotated ears, Short neck, Pachygyr... ORPHA:2328
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Low-set ears OMIM:607131
German Syndrome
Camptodactyly of finger, Short neck, Hearing abnormality, Limitation of joint mobility, Orofacial... ORPHA:2077
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Otitis media, Conductive hearing impairment, Atrial septa... ORPHA:353281
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Transaldolase Deficiency
Ventricular septal defect, Short neck, Wide anterior fontanel, Deep philtrum, Patent ductus arter... OMIM:606003
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Hypoplasia of the brainstem, Kinked br... OMIM:617822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Myocardial fib... OMIM:253800
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Patent ductu... OMIM:612561
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Facial palsy... ORPHA:2780
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Doors Syndrome
Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, High palate, Spina bifi... ORPHA:79500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Prot... OMIM:619534
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Sensorin... ORPHA:2590
Chromosome 18Q Deletion Syndrome
Short neck, Downturned corners of mouth, Short philtrum, Conductive hearing impairment, Atrial se... OMIM:601808
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Abnormal pinna morphology, Short neck, Patent ductus arteriosus, Cuppe... ORPHA:52055
Recombinant 8 Syndrome
Downturned corners of mouth, Abnormality of the neck, Atrial septal defect, Chronic otitis media,... ORPHA:96167
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment ORPHA:391428
8P23.1 Microdeletion Syndrome
Short neck, External ear malformation, Pulmonary artery stenosis, Patent ductus arteriosus, Hyper... ORPHA:251071
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly, Low-set ears OMIM:617563
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great art... OMIM:616789
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Death in infancy, Partial absence of cerebellar vermis, Hydr... OMIM:613150
Weiss-Kruszka Syndrome
Prominent metopic ridge, Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defec... OMIM:618619
Hereditary Methemoglobinemia
Cerebellar atrophy, Lip discoloration, Cyanosis ORPHA:621
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Dental crowding, Ascending aorta hypoplasia, Deep philtr... OMIM:619503
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Ma... OMIM:600460
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... ORPHA:83463
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, High palate, Facial palsy, Decreased size of nerve terminals ORPHA:98913
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bilateral sensorineural hearing impairment, Abnormal uppe... ORPHA:275872
Multiple Synostoses Syndrome 1
Thin upper lip vermilion, Stapes ankylosis, Proximal/middle symphalangism of 5th toe, Tarsal syno... OMIM:186500
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Joint laxity, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic va... OMIM:617168
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Macrotia, Dandy-Walker... OMIM:616300
Ververi-Brady Syndrome
Thin upper lip vermilion, Delayed skeletal maturation, Cupped ear, Wide mouth, Everted lower lip ... OMIM:617982
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Posteriorly rotated ears, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Low-... OMIM:619479
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Tarp Syndrome
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Subdural hemorrhage, Tetralogy of Fallot,... OMIM:311900
Pallister-Hall Syndrome
Natal tooth, Ventricular septal defect, Posteriorly rotated ears, Cleft upper lip, Patent ductus ... OMIM:146510
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Hearing impairment, Cyanosi... ORPHA:1199
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Low-set ears, Hypoplasia of the midbrain, Ventricu... OMIM:616202
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, ... ORPHA:457284
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Redundant neck skin, Short neck, Deep philtrum, Flexion contracture, ... ORPHA:96334
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atrial sept... ORPHA:896
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Abnorma... ORPHA:79139
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Short lingual frenulum, Dental crowding, Osteoarthritis, Red... ORPHA:740
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Short neck, Esophageal atresia, Patent ductus arteri... OMIM:300514
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... OMIM:174300
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ... ORPHA:51608
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Short neck, Patent ductus arteriosus, Bilateral cleft lip and palate, Abn... ORPHA:2001
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Short neck, Mac... ORPHA:1780
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Cleft upper lip... OMIM:264480
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Short neck, Cleft maxillary alveolar ridge, Atriovent... ORPHA:508488
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Duplication Of The Pituitary Gland
Encephalocele, Abnormal midbrain morphology, Hearing impairment ORPHA:314621
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Cleft palate, Anotia, Microtia OMIM:243440
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial ... ORPHA:453499
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy... ORPHA:99125
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Acrocardiofacial Syndrome
Joint dislocation, Death in infancy, Mitral stenosis, Ventricular septal defect, Camptodactyly of... ORPHA:2008
Johnson Neuroectodermal Syndrome
Facial palsy, Carious teeth, Cleft palate, Protruding ear, Microtia, Everted lower lip vermilion,... ORPHA:2316
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... OMIM:620067
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Chiari type I malformation, High palate, Otitis media, At... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Chiari type I malformation, High palate, Otitis media, At... ORPHA:353277
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ... ORPHA:580
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Vasculitis, Limitation of joint mobility, Erythema, Urticaria, Arthritis,... ORPHA:343
Aase-Smith Syndrome I
Death in infancy, Abnormal pinna morphology, Ventricular septal defect, Hydrocephalus, Flexion co... OMIM:147800
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Conductive hearing impairment, Low-set ea... OMIM:277170
Holt-Oram Syndrome
Ventricular septal defect, Joint stiffness, Patent ductus arteriosus, Anomalous pulmonary venous ... ORPHA:392
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Low-set... OMIM:619910
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Abnormal ce... ORPHA:60015
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosus, O... ORPHA:1790
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... OMIM:115470
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Jaundice ORPHA:1667
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Sensorineural hearing impairment, Abnormality of the in... ORPHA:52429
Tetrasomy 9P
Joint dislocation, Glue ear, Dental crowding, Short neck, Downturned corners of mouth, High palat... ORPHA:3310
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology ORPHA:3222
Congenital Tricuspid Valve Dysplasia
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... ORPHA:555874
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abd... ORPHA:91387
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Cleft lip, Patent duc... OMIM:619343
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Hypoplasia of the... OMIM:236670
Aicardi-Goutieres Syndrome 1
Cerebellar calcifications, Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolong... OMIM:225750
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Cleft palate, St... ORPHA:137675
Benign Schwannoma
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwanno... ORPHA:252164
Neu-Laxova Syndrome 1
Short neck, Swollen lip, Neonatal death, Pterygium, Patent foramen ovale, Dandy-Walker malformati... OMIM:256520
Acitretin/Etretinate Embryopathy
Cupped ear, Antecubital pterygium, Conotruncal defect, Microtia, High palate, Bilateral sensorine... ORPHA:40366
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... ORPHA:217085
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Congenital Fibrinogen Deficiency
Cyanosis, Gingival bleeding, Left ventricular hypertrophy, Volvulus, Bruising susceptibility, Sub... ORPHA:335
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Short philt... ORPHA:1507
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Papilled... ORPHA:217093
Diamond-Blackfan Anemia 7
Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, O... OMIM:612562
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Holoprosencephaly
Short neck, Deep philtrum, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker ... ORPHA:2162
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abnormal heart morpho... ORPHA:268943
Gangliocytoma
Abnormal cerebellum morphology, Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor ORPHA:251937
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Ventricular septal defect, Cleft upper lip, Cleft l... OMIM:257920
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal cyst ORPHA:18
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Cheilitis, Asce... ORPHA:2331
Breath-Holding Spells
Cyanosis OMIM:607578
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Aortic arch aneurysm, Hyperextensibility of the finger joints, Posteri... OMIM:135500
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Craniofacial osteosclerosis, High palate, Conductive hearing impairment, Atrial ... OMIM:300373
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Transient ischemic attack, Abnormal pericardium morphology, Cutis marmora... ORPHA:183
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Short neck, Increased nuchal translucency, Decreased calvarial... OMIM:619879
Opitz Gbbb Syndrome
High palate, Atrial septal defect, Patent foramen ovale, Dandy-Walker malformation, Prominent met... ORPHA:2745
Congenital Myasthenic Syndrome
Joint laxity, Congenital hip dislocation, Cyanosis, Sensorineural hearing impairment, High palate... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Congenital hip dislocation, Cyanosis, Sensorineural hearing impairment, High palate... ORPHA:98914
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding... ORPHA:352665
17Q24.2 Microdeletion Syndrome
Thin upper lip vermilion, Otosclerosis, Short neck, Abnormality of the wrist, Patent ductus arter... ORPHA:529962
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Venous insufficiency, Abnormality of the gingiva, Osteoarthritis, Gingivitis, ... ORPHA:285
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Patent ductus arter... OMIM:619480
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Stenosis of th... ORPHA:233
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Transposition of the ... OMIM:314390
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cerebellar hypop... OMIM:615948
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins OMIM:265120
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Colon ... ORPHA:449563
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Contracture of the distal interphalangeal joint of the fingers, Cleft palate, F... ORPHA:83617
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Conductive hearing impairment, Cerebellar vermis hypoplasia, Low-set, po... ORPHA:2754
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Stapes ankylosis, Prominent metopic ridge, Papilledema, Dental crowdin... OMIM:614188
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... OMIM:249000
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Abnormal cerebellum morphology, Sensorineural hearing impairment... ORPHA:637
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Conotruncal defect, Coarctation of aorta, Downturned corners of mouth, Macrogl... ORPHA:96147
Thoracoabdominal Syndrome
Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transpositio... OMIM:313850
Classical Ehlers-Danlos Syndrome
Osteopenia, Rectal prolapse, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ecch... ORPHA:287
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... ORPHA:439
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform... OMIM:610655
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, High palate, ... OMIM:619995
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... OMIM:619268
Loeys-Dietz Syndrome 1
Joint laxity, Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esoph... OMIM:609192
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Foam cells, Cyanosis ORPHA:747
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip,... ORPHA:1335
Asbestos Intoxication
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion ORPHA:2302
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... ORPHA:2847
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... ORPHA:210122
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Cutis marmorata, Optic neuropathy, Bone pain, Optic atrophy, Peri... OMIM:259900
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Ventricular septal defect, Posteriorly rotated ears, Cleft upper lip, Aque... OMIM:154400
Gaucher Disease, Type Ii
Death in infancy, Double aortic arch OMIM:230900
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Pulmonary arteriovenous fistulas, Telangiectasia, Hypoxemia,... ORPHA:2038
Dravet Syndrome
Limited neck range of motion, Cyanotic episode, Limited knee extension ORPHA:33069
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... ORPHA:99104
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis, Hearing impairment, Protruding tongue OMIM:619580
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Flexion contracture, Downturned corners of mouth, Short philtrum, Wid... ORPHA:487796
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Death in infancy, Optic disc pallor, Cyanosis, Optic neuropathy, Sensorineura... OMIM:252010
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Cl... ORPHA:2473
Chime Syndrome
Abnormal dental morphology, Ventricular septal defect, Abnormality of the dentition, Supernumerar... ORPHA:3474
Pagod Syndrome
Encephalocele, Death in infancy, Spina bifida, Situs inversus totalis, Meningocele, Optic atrophy... ORPHA:991
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Meester-Loeys Syndrome
Joint dislocation, Joint hypermobility, Poor wound healing, Gingival overgrowth, Mitral valve pro... OMIM:300989
High Altitude Pulmonary Edema
Hypoxemia, Vertigo, Cyanosis ORPHA:330012
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal pons morphology, Syringomyelia, Myelitis ORPHA:1320
Kleefstra Syndrome 1
Natal tooth, Abnormal pinna morphology, Protruding tongue, Persistence of primary teeth, Tracheob... OMIM:610253
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdominal aortic aneurysm, Joint l... ORPHA:284984
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Microtia, Conductive hearing impairment, Abnormality of the mid... ORPHA:861
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... OMIM:108900
Acquired Methemoglobinemia
Hypoxemia, Vertigo, Cyanosis ORPHA:464453
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Patent ductus arterios... OMIM:619869
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Conductive hearing impairment, Atrial septal... OMIM:607872
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Short neck,... OMIM:617925
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... ORPHA:649
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness ORPHA:2400
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Abnormal pulmonary vein morphology, Cyanosis, Hypoxemia ORPHA:199241
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology OMIM:614298
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... OMIM:613795
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Delayed epiphyseal ossification, Flexion contracture, M... OMIM:210710
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Atrial septal defect, Low-set, posteriorly rotated ears, Hearing impairment... ORPHA:1052
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Tracheomalacia, Conductive hearing imp... ORPHA:1393
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy OMIM:261680
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Acute Interstitial Pneumonia
Pericardial effusion, Cyanosis, Hypoxemia ORPHA:79126
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... ORPHA:99106
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Conductive hearing... OMIM:117650
Eisenmenger Syndrome
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Vertigo, Aortopulmonary window, Ab... ORPHA:97214
Fucosidosis
Cardiomegaly, Abnormality of the dentition, Acrocyanosis, Vascular skin abnormality, Hearing impa... ORPHA:349
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Cleft upper lip... OMIM:100300
Eosinophilic Fasciitis
Arthritis, Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Fanconi Anemia
Reduced bone mineral density, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia... ORPHA:84
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart... ORPHA:42775
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Short neck, Wide mouth, Thick vermilion border, Short philt... ORPHA:2896
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Stippled calcificati... ORPHA:60025
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Molar tooth sign on MRI, Dilated thi... ORPHA:434179
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Restrictive Dermopathy 2
Rectal prolapse, Cyanosis OMIM:619793
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen conten... OMIM:261740
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Aicardi-Goutières Syndrome
Multiple joint contractures, Cutis marmorata, Cardiomegaly, Calcification of the aorta, Aortic an... ORPHA:51
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Sensorineural hearing impairment, Coarctation o... OMIM:618748
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... OMIM:166220
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Ab... ORPHA:88628
Loeys-Dietz Syndrome
Joint dislocation, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity, Patent ductus ... ORPHA:60030
Primary Hyperoxaluria
Optic disc pallor, Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalize... ORPHA:416
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Sensorineural hearing impairment, Cyanosis, Genu valgum ORPHA:488627
Complete Atrioventricular Septal Defect
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp... ORPHA:1329
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Tetralogy of Fallot, Cleft ... OMIM:153400
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Orofacial cleft, Thin ... ORPHA:1519
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Cleft ... ORPHA:306542
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Abnormal heart morphology ORPHA:1867
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Dextrocardia, Widely patent fontanelles and... ORPHA:1662
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous sys... ORPHA:48435
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis ORPHA:159
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Poems Syndrome
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Pericardial effusion, Sclerosis of s... ORPHA:2905
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
1P36 Deletion Syndrome
Abnormality of the neck, Conductive hearing impairment, Abnormality of the anus, Low-set, posteri... ORPHA:1606
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Juvenile Amyotrophic Lateral Sclerosis
Abnormal cerebellum morphology, Amyotrophic lateral sclerosis ORPHA:300605
Cog1-Cdg
Cerebellar dysplasia, Thin upper lip vermilion, Osteopenia, Cerebellar vermis hypoplasia, Low-set... ORPHA:263508
Carpenter Syndrome 2
Short neck, High, narrow palate, Protruding ear, Knee flexion contracture, High palate, Atrial se... OMIM:614976
Sepsis In Premature Infants
Cyanosis, Jaundice, Enterocolitis, Petechiae, Purpura ORPHA:90051
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... ORPHA:168563
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Ventricular septal defe... OMIM:235730
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... ORPHA:99103
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Gastrointestinal stroma... ORPHA:221
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Neuropathic arthropathy, Decreased number of large peripheral myelinated... OMIM:223900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft har... ORPHA:261537
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Facial palsy ORPHA:31826
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Short neck, High, narrow palate, Webbed neck, Reduced bone min... ORPHA:99413
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Short neck, High, narrow palate, Webbed neck, Reduced bone min... ORPHA:881
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Short neck, High, narrow palate, Webbed neck, Reduced bone min... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Short neck, High, narrow palate, Webbed neck, Reduced bone min... ORPHA:99226
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Accelerated skeletal maturation, Atrial septal defect, Posterior he... OMIM:312870
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal death, Death in infancy, Cyanosis, Hypoxemia OMIM:610921
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Choanal Atresia
Tracheomalacia, Cyanosis, Craniosynostosis ORPHA:137914
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft har... ORPHA:261552
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, Cleft har... ORPHA:2152
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Familial Dysautonomia
Orthostatic hypotension, Recurrent fractures, Optic atrophy, Osteolysis, Acrocyanosis, Avascular ... ORPHA:1764
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Floating-Harbor Syndrome
Cochlear malformation, Renal cyst, Low-set ears, Epididymal cyst, Conductive hearing impairment, ... ORPHA:2044
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Sensorineural hearing impairment, Abnormal midbrain morphology ORPHA:293987
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Cutis marmorata, Delayed closure of the anterior fontane... OMIM:303600
Beckwith-Wiedemann Syndrome
Otosclerosis, Prominent metopic ridge, Cardiomegaly, Accelerated skeletal maturation, Large place... ORPHA:116
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Wilson Disease
Face of the giant panda sign OMIM:277900
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Death in infancy, Cyanosis, Death in childhood OMIM:618426
Myasthenia Gravis
Acrocyanosis, Rheumatoid arthritis, Hearing impairment ORPHA:589
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Sensorineural hearing impairment OMIM:615911
Otosclerosis 10
Otosclerosis OMIM:615589
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Semilobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Abnormal brainstem morphology, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Abnormal brainstem morphology, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Abnormal brainstem morphology, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Sensorineural hearing impairment, Abnormal brainstem morphology, Hydrocephalus ORPHA:93924
Proteus Syndrome
Enlarged polycystic ovaries, Renal cyst, Sirenomelia, Low-set ears, Macrotia, Narrow internal aud... ORPHA:744
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology, Ventriculomegaly, Protruding ear ORPHA:464311
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Meconium ileus, Knee flexion contracture OMIM:617239
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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