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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gbx2 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Low-set ears, Cleft upper lip, Cleft pala... OMIM:231060
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Protruding ear, Recurrent otitis media, High palate, Pulmonic stenosis, Macrotia, Tetralogy of Fa... ORPHA:3304
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Cyanosis, Abnormal aortic arch... ORPHA:860
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Aplasia/H... ORPHA:231169
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Low-set ears, Abnorma... ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Severe sensorineural hearing impairment, Cerebellar hypoplas... OMIM:604213
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Skraban-Deardorff Syndrome
Absent cupid's bow, Recurrent otitis media, Widely spaced teeth, Right aortic arch, Thick upper l... OMIM:617616
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Interrupted aortic arch, Wide anterior fontanel, ... OMIM:616920
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Bicuspid aortic valve, Decreased nerve conduction velocity, Joint hypermobility, A... ORPHA:477817
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Cardiospondylocarpofacial Syndrome
Long philtrum, Tarsal synostosis, Recurrent otitis media, Fused cervical vertebrae, Hypoplastic a... OMIM:157800
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Perimembranous ventricular septal defect, Transposition of the great arteries, Spina ... OMIM:617877
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Hearing impairment, Cleft palate, T... ORPHA:1727
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, N... ORPHA:1110
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus art... OMIM:617478
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI, Occipital encephalocele OMIM:617562
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Gingival overgrowth, Low-set ears, Abnormality of the dentition, Campt... OMIM:179613
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Low-set ears OMIM:617127
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Ethmoidal encephalocele, Abnormal midbrain morpho... ORPHA:280195
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Low-set ears, Cleft upper lip, Coarctation of aorta, Cl... OMIM:600987
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Holoprosencephaly,... ORPHA:990
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Death ... OMIM:618845
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hydrocephalus OMIM:619111
Crouzon Syndrome
Optic atrophy, Hydrocephalus, Hearing impairment, Conductive hearing impairment, Chiari malformat... ORPHA:207
Glossopharyngeal Neuralgia
Abnormal palate morphology, Vascular dilatation, Ear pain, Abnormal glossopharyngeal nerve morpho... ORPHA:221098
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch... ORPHA:2326
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Molar tooth sign on MRI, Anencephaly OMIM:614120
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Protein-losing enteropathy, Low-set ears, Camptodactyly... OMIM:608104
Double Outlet Right Ventricle
Cyanosis, Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonary artery atresia,... ORPHA:3426
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar atrophy, Ventriculomegaly, Superio... OMIM:617622
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Low posterior hairline, Anal atresia, Pul... OMIM:220210
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Premature graying of hair, Abnormal left ventricle morphology, Premature cor... OMIM:300845
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long philtrum, Parachute mitral valve, Chiari type I malformation, Webbed neck, Short philtrum, P... OMIM:618316
Joubert Syndrome 36
Sensorineural hearing impairment, Molar tooth sign on MRI OMIM:618763
Apert Syndrome
Chronic otitis media, Limited elbow movement, Bifid uvula, Craniosynostosis, Narrow palate, Hydro... OMIM:101200
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Lethal Congenital Contracture Syndrome 10
Narrow palate, Stiff neck, Torticollis, Cardiomegaly, Low-set ears, High palate, Ventricular sept... OMIM:617022
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent otitis media, Dextrocardia OMIM:618254
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Phaver Syndrome
Hypoplastic aortic arch, Pterygium, Aplasia/Hypoplasia of the earlobes, Pulmonary artery atresia,... ORPHA:2876
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Dandy-Walker malformation, Abnorma... OMIM:614175
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Hydr... ORPHA:2306
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Apert Syndrome
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Conductive hearing impairment, Ch... ORPHA:87
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Muscular ventricular septal defec... ORPHA:363444
Meacham Syndrome
Bicuspid aortic valve, Stillbirth, Transposition of the great arteries, Partial anomalous pulmona... OMIM:608978
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Widely spaced teeth, High palate, Low-set ears, Pulmoni... OMIM:618205
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Low-set ears, Hypoplasia of the semicircular ca... ORPHA:251061
Distal Duplication 14Q
Hearing impairment, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... OMIM:265380
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomeris... OMIM:306955
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Alg3-Cdg
Osteopenia, Neural tube defect, Coarctation of the descending aortic arch, Dandy-Walker malformat... ORPHA:79321
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Marcus-Gunn Syndrome
Abnormal ear morphology, Cleft palate, Abnormal heart morphology, Abnormal fifth cranial nerve mo... ORPHA:91412
Chromosome 9P Deletion Syndrome
Narrow palate, Thin vermilion border, High, narrow palate, Perimembranous ventricular septal defe... OMIM:158170
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Cerebellar hypoplasia, Occipital encephalocele, Hypoplasia of the brainstem ORPHA:352682
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, Low-set ears, High palate, Cam... OMIM:614846
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hydroceph... ORPHA:163961
Sandestig-Stefanova Syndrome
Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Un... OMIM:618804
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea OMIM:620469
Yuan-Harel-Lupski Syndrome
Talipes valgus, Long philtrum, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic... OMIM:616652
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,... OMIM:617912
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Cerebellar vermis... OMIM:620642
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Hypopla... OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplas... OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the ... OMIM:613153
Catel-Manzke Syndrome
Genu valgum, Dextrocardia, Joint dislocation, Low-set ears, Glossoptosis, Camptodactyly, High pal... OMIM:616145
Branchiooculofacial Syndrome
Premature graying of hair, Sensorineural hearing impairment, Microtia, Low posterior hairline, Ma... OMIM:113620
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short philtrum, Interrupted aortic arch, Hyperextensibility of the finger joints, Microtia, Hydro... ORPHA:163979
Fliedner-Zweier Syndrome
Long philtrum, Bicuspid aortic valve, Hypoplastic aortic arch, Meningocele, High palate, Cerebell... OMIM:620511
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Lo... OMIM:608629
Craniofacioskeletal Syndrome
Short philtrum, Interrupted aortic arch, Microtia, Cleft palate, Posteriorly rotated ears, Patent... OMIM:300712
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ... ORPHA:101070
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Sensorineural hearing impairment, Hydrocephalus, High palate, Ankyloglos... ORPHA:250989
Treacher Collins Syndrome 2
Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Cleft palate, Anotia OMIM:613717
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Solitary median maxillary centra... OMIM:619657
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Polymicrogyria, Vascular ring, Pachygyria, Knee flexion contracture, Atrial septal... OMIM:603387
Joubert Syndrome 14
Molar tooth sign on MRI, Encephalocele, Meningocele, Cerebellar vermis hypoplasia, Dandy-Walker m... OMIM:614424
Gorham-Stout Disease
Hearing impairment, Abnormality of the internal auditory canal, Chiari type I malformation ORPHA:73
Charge Syndrome
Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Umbilical hernia, Aplasia/Hypopla... ORPHA:138
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Bicuspid aortic valve, Carpal osteolysis, Pterygium, Osteolysis involving bones of th... ORPHA:371428
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint hypermobility, Bicuspid aortic valve, Shoulder subluxation, Fused cervical vert... ORPHA:508498
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Fryns Syndrome
Aganglionic megacolon, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, Abnorm... ORPHA:2059
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:614815
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebellar agenesis, Holoprosencephaly... OMIM:617967
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Low-set ears, Intestinal malrotation, Lobar holoprosencephaly, Velopharyng... OMIM:614701
Perching Syndrome
Joint contracture, High palate, Camptodactyly, Cyanosis OMIM:617055
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Smooth tongue, Strawberry tongue, Abnormal fifth ... ORPHA:353253
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI, Encephalocele OMIM:612285
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Sensorineural hearing impairment, Facial diplegia, Lo... ORPHA:268940
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Death in ch... OMIM:618651
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Jaundice, Excessive wrinkled skin, Sensorineural hearin... OMIM:608779
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Diabetic Embryopathy
Abnormality of the neck, Transposition of the great arteries, Low-set, posteriorly rotated ears, ... ORPHA:1926
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... OMIM:610688
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Ventriculomegaly, Abnormal cerebellum morphology ORPHA:255182
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Optic nerve hypoplasia, Low posterior hairline, Pulmonic stenosis, Delayed skeletal m... OMIM:617506
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:301043
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Primary Ciliary Dyskinesia
Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit... ORPHA:244
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Hypodontia, Metopic synostosis, Optic nerve hypoplasia, Pulmonary artery atr... OMIM:301056
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Cyanosis, Esophageal atresia, Tracheomalacia, Tracheob... ORPHA:95430
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orofacial cleft, Hearing impairment, Atresia of the external auditory canal, Abnormality of neuro... ORPHA:3186
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Hydrocephalus OMIM:617542
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Low-set ears, Abnormal anterior horn cell... OMIM:611890
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Abnormal lower lip morphology, Abnormal aortic morphology, Tooth agenesis, Joint ... ORPHA:1166
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Transient isc... ORPHA:1330
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy OMIM:215470
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Low-set ears, Elongated superior cerebella... OMIM:618161
Holoprosencephaly 14
Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Aortic valve atresia, Dandy-Walker ... OMIM:619895
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Absence Of The Pulmonary Artery
Right aortic arch, Truncus arteriosus, Abnormal inferior vena cava morphology, Patent foramen ova... ORPHA:980
Joubert Syndrome 31
Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Histiocytoid cardiomyopathy, Anal atresia, Hearing impairment, Cleft palate, Colon... OMIM:309801
Distal Triplication 15Q
Hypoplastic aortic arch, Hydrocephalus, Sensorineural hearing impairment, Microtia, Abnormal heli... ORPHA:314588
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Conductive hearing impairment, Molar tooth sign on MRI, Low-set ears OMIM:300804
De Barsy Syndrome
Delayed skeletal maturation, Umbilical hernia, Small, conical teeth, Delayed closure of the anter... ORPHA:2962
Igg4-Related Aortitis
Intestinal obstruction, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubu... ORPHA:449400
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Abnormal brainstem morphology, Hydrocephalus, Hypoplasi... ORPHA:370959
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypo... ORPHA:2318
Tick-Borne Encephalitis
Limb pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphol... ORPHA:297
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Cleft palate, Tetralogy of Fallot, Encephalocele ORPHA:217
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular hypertrophy, Low-set ears, Pulmonary artery atresia, High ... OMIM:612946
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Feingold Syndrome Type 1
Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, Sensorineural hearing impairment,... ORPHA:391641
Spinocerebellar Ataxia Type 2
Cerebellar Purkinje layer atrophy, Spinal cord posterior columns myelin loss, Abnormality of the ... ORPHA:98756
Monosomy 18Q
Pulmonary valve defects, Sensorineural hearing impairment, Aortic valve stenosis, Delayed skeleta... ORPHA:1600
Rubinstein-Taybi Syndrome 1
Dislocated radial head, Dental crowding, Low posterior hairline, Delayed skeletal maturation, Mit... OMIM:180849
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypo... ORPHA:220497
Williams Syndrome
Abnormal carotid artery morphology, Chronic otitis media, Sensorineural hearing impairment, Evert... ORPHA:904
Hoxha-Aliu Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous v... OMIM:620662
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Ogden Syndrome
Left atrial enlargement, Redundant neck skin, Everted upper lip vermilion, Delayed skeletal matur... OMIM:300855
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Wide anterior fontanel, Patent ductus arteriosus, Double outlet right ventricle, A... OMIM:614886
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Joubert Syndrome 7
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem, Encephalocele OMIM:611560
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Joint hypermobili... ORPHA:261243
Feingold Syndrome 1
Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, Low-set ears, Everted lower lip v... OMIM:164280
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... OMIM:610706
Neuralgic Amyotrophy
Redundant neck skin, Narrow mouth, Bifid uvula, Cleft palate, Acrocyanosis, Upper limb pain ORPHA:2901
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Tracheoesophageal fistula, ... OMIM:214800
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma... ORPHA:206448
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Webbed neck, Congenital muscular torticollis, Abnormal cranial n... ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Recurrent otitis media, Dysgenesis of the cerebellar vermis, Cerebellar ve... OMIM:617751
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Congenital Gerbode Defect
Ankle swelling, Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid... ORPHA:99095
Cardiac-Urogenital Syndrome
Partial anomalous pulmonary venous return, Mesocardia, Patent ductus arteriosus, Dextrocardia, Tr... OMIM:618280
You-Hoover-Fong Syndrome
Double aortic arch, Hearing impairment, Coarctation of aorta, Vascular ring, Cleft palate, Access... OMIM:616954
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Dandy-Walker malformation, Sensorineural hearing im... ORPHA:356961
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon, Aprosencephaly OMIM:601374
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Aortic valve stenosis, Delayed skeletal maturation, Umbilical hernia, Bicusp... OMIM:618164
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Low-set ears, Narrow mouth, Coarctation of aorta, Cle... OMIM:615502
Mullegama-Klein-Martinez Syndrome
Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Low-set ears, Facial p... OMIM:301022
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Recurrent otitis media, Absent cupid's bow, Abnormal Eustachian tube... ORPHA:513456
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypo... ORPHA:220493
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Microdontia, Bifid uvula, Long philtrum, Joint hypermobility, B... OMIM:612474
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... ORPHA:2255
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Orofacial cleft, Interrupted aortic arch, Sensorineural hearing impairment, Patent foramen ovale,... ORPHA:17
Machado-Joseph Disease Type 3
Abnormal vestibular function, Cerebellar atrophy, Dilated fourth ventricle, Degeneration of anter... ORPHA:276244
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Posteriorly rotated ears, Low-set ears OMIM:619185
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Low-set ears, Dila... OMIM:619306
Primary Pulmonary Hypoplasia
Cyanosis, Patellar hypoplasia, Dextrocardia, Low-set ears, Hypoxemia, Secundum atrial septal defe... ORPHA:2257
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Death in childhood, Lissencephaly, Hydrocephalus, Sensorineural hearing im... OMIM:612938
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Low-set ears, Multinucleated neuron, Neonatal death, Cerebellar hypo... OMIM:236500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Thick lower lip vermilion, Sensorineural hearing impair... OMIM:301040
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Low-set ears, ... OMIM:616546
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Cerebellar atrophy, Lateral ventricle dilatation, Abnormal brainstem morp... ORPHA:300573
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta, Accelerated skeletal maturation, Advanced tarsal ... OMIM:215045
Maternal Phenylketonuria
Long philtrum, Hypoplastic helices, Esophageal atresia, High palate, Coarctation of aorta, Abnorm... ORPHA:2209
Down Syndrome
Redundant neck skin, Microtia, Joint hypermobility, Aganglionic megacolon, Patent foramen ovale, ... OMIM:190685
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Truncus arteriosus, Abnormal aortic morphology, Joint stiffness... ORPHA:2516
Perlman Syndrome
Distal ileal atresia, Everted upper lip vermilion, Interrupted aortic arch, Long upper lip, Low-s... OMIM:267000
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing... ORPHA:500159
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, High, narrow palate, Recurrent otitis media, Cerebellar vermis hypoplasia, Polymic... OMIM:618494
Distal Deletion 15Q
Generalized joint hypermobility, Genu valgum, Abnormal aortic arch morphology, Short philtrum, Ab... ORPHA:1596
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Low-set, p... ORPHA:397715
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Atrioventricular canal defect, Single ventricle, Doubl... OMIM:270100
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Hydrocephalus, Low-set ears, ... ORPHA:8
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Spina bifida occulta, Facial diplegia, Low-set ears, Cochl... ORPHA:96148
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Giant Cell Arteritis
Optic atrophy, Glossitis, Vasculitis, Vertigo, Arthritis, Aortic dissection, Double outlet right ... ORPHA:397
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Patent foram... OMIM:620570
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurrent joint dislocatio... OMIM:619472
Lateral Meningocele Syndrome
Dental crowding, Umbilical hernia, Long philtrum, Bicuspid aortic valve, Joint hypermobility, Men... OMIM:130720
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Broad neck, Abnormal vena cava morphology, Patent foramen ovale, Low poste... ORPHA:163956
Frank-Ter Haar Syndrome
Redundant neck skin, Broad alveolar ridges, Wide mouth, Mitral valve prolapse, Patent foramen ova... OMIM:249420
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Craniofacial Microsomia 1
Occipital encephalocele, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Wide ... OMIM:164210
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent otitis media, High, narrow palate, Inter... OMIM:188400
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral v... OMIM:300166
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Descending thoracic ... ORPHA:229
Tarp Syndrome
Optic atrophy, Atrial septal defect, Cyanosis, Low-set, posteriorly rotated ears, Abnormal antihe... ORPHA:2886
20Q13.33 Microdeletion Syndrome
Thin vermilion border, Dilation of Virchow-Robin spaces, Low-set, posteriorly rotated ears, Hypop... ORPHA:261311
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev... ORPHA:99852
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Coronary artery atherosclerosis, Ascending tubular aorta aneurysm, Stroke,... OMIM:132900
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal brainstem morpho... ORPHA:467166
8P23.1 Duplication Syndrome
Hearing impairment, Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion border, Long philtrum... ORPHA:251076
Mungan Syndrome
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Abnor... OMIM:611376
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Madelung deformity, Right aortic arch, Volvulus, Abnormal heart morphology... OMIM:301111
3C Syndrome
Death in infancy, Intestinal malrotation, Pulmonic stenosis, Abnormal mitral valve morphology, Ao... ORPHA:7
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
22Q11.2 Deletion Syndrome
Chronic otitis media, Abnormal aortic arch morphology, Small earlobe, Multiple suture craniosynos... ORPHA:567
Fetal Trimethadione Syndrome
Transposition of the great arteries, Abnormal helix morphology, Low-set ears, High palate, Tetral... ORPHA:1913
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal... OMIM:618223
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Low-set, posteriorly rotated ear... ORPHA:1908
Osteogenesis Imperfecta, Type I
Osteopenia, Aortic aneurysm, Otosclerosis, Hearing impairment, Dentinogenesis imperfecta, Mitral ... OMIM:166200
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Agenesis of cerebellar vermis, Cerebellar hypoplasia... OMIM:601322
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Cyanotic episode, Death in infancy OMIM:610992
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Stiff neck,... ORPHA:268882
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Everted lower lip vermilion, Wide mouth, Umbilical hernia, Transposition of the great arteries, S... OMIM:280000
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, A... ORPHA:2396
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Craniosynostosis, Lissencephaly, Cyanotic episode, Cerebellar vermis h... ORPHA:284417
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Abnormal vestibular function, Tetralogy of Fallot, Ventricular ... OMIM:617992
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Pulmonic stenosis, Umbilical hernia,... OMIM:201000
Verheij Syndrome
Long philtrum, Optic nerve hypoplasia, Truncus arteriosus, Thin upper lip vermilion, Cleft palate... OMIM:615583
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Hearing impairment, Aplasia/Hypoplasia of the cerebellum, Hydrocep... ORPHA:2720
Congenital Heart Block
Patent foramen ovale, Pericardial effusion, Patent ductus arteriosus, Cyanosis, Endocardial fibro... ORPHA:60041
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Abnormal pinna morphology, Total anomalous pulmonary venous return, D... ORPHA:261183
Warsaw Breakage Syndrome
High palate, Hearing impairment, Cutis marmorata, Tetralogy of Fallot, Wide mouth, Optic disc col... OMIM:613398
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Thick lower lip vermilion, Sensorineural hearing impairment, Gingival overgrowth, ... OMIM:220500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Low-set ears, Anterior basal encephalocele, Camptodacty... OMIM:136760
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Vertigo, Hearing impairment, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Fumarase Deficiency
Optic atrophy, Perimembranous ventricular septal defect, Polymicrogyria, Necrotizing enterocoliti... OMIM:606812
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Ap... OMIM:216360
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Arteria lusoria, Hypoplasia of right ventricle, Left aortic arch with ce... OMIM:212093
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Low-set ears, Abnormal midbrain morphology, Hypoplasia of ... ORPHA:444072
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Truncus arteriosus, Cleft palate, Ventricular septal defect OMIM:601355
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Abnormal pons morph... ORPHA:370997
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Aortic Arch Interruption
Bicuspid aortic valve, Transposition of the great arteries, Cyanosis, Aortic valve atresia, Trunc... ORPHA:2299
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:214300
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Neonatal death, Patent ductus arteriosus OMIM:601612
Tetrasomy 5P
Redundant neck skin, Hydrocephalus, Wide anterior fontanel, Low-set ears, High palate, Posteriorl... ORPHA:3309
Chromosome 6Pter-P24 Deletion Syndrome
Sensorineural hearing impairment, Dental crowding, Umbilical hernia, Joint hypermobility, Telangi... OMIM:612582
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Double Outlet Left Ventricle
Orofacial cleft, Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanos... ORPHA:3427
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
Aortic Valve Disease 1
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral... OMIM:109730
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Chia... OMIM:207950
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Sensorineural hearing impairment, Flexion contracture ... ORPHA:2712
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Hearing abnormality, Intestinal polyposis, Peripheral s... ORPHA:252164
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Spinal dysraphism, Incomplete partition of the cochlea type II OMIM:617660
Schinzel-Giedion Syndrome
Stiff elbow, Broad alveolar ridges, Abnormal heart morphology, Wide mouth, Umbilical hernia, Agan... ORPHA:798
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Microtia, Hearing impairment... ORPHA:90024
Toriello-Carey Syndrome
Abnormal palate morphology, Aganglionic megacolon, Abnormal cardiac septum morphology, Wide anter... ORPHA:3338
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Abnormal lower motor neuron morphology, High-frequency sensorin... ORPHA:2590
German Syndrome
Orofacial cleft, Hearing abnormality, Limitation of joint mobility, Everted lower lip vermilion, ... ORPHA:2077
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Low... OMIM:619476
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Low-set ears, Chiari malformation, Hearing impair... OMIM:617159
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Joint contracture of the 5th finger, Macrotia, Simplified gyral patter... OMIM:614407
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Abnormal helix morphology, Spina... ORPHA:1120
Lennox-Gastaut Syndrome
Abnormal brainstem morphology, Vertigo ORPHA:2382
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Low-set ears OMIM:607131
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Abnormal earlobe morpho... ORPHA:141127
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, Dental crowding, Intestinal malrotation, Delayed skeletal matur... ORPHA:353281
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Cerebellar cyst, Transposition of the great arteries, Cerebe... OMIM:253800
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Kapur-Toriello Syndrome
Orofacial cleft, Polymicrogyria, Low-set ears, Atresia of the external auditory canal, Intestinal... ORPHA:2328
Diamond-Blackfan Anemia 6
Tracheomalacia, Ventricular hypertrophy, Cleft upper lip, Bifid uvula, Tetralogy of Fallot, Cleft... OMIM:612561
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, Low-set ears, Kinked brainstem, Cerebellar dysplasia, P... OMIM:617822
Transaldolase Deficiency
Thin vermilion border, Short philtrum, Wide anterior fontanel, Patent foramen ovale, Low-set ears... OMIM:606003
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Aortic valve stenosis, Bifid uvula, Umbilical hernia, Joint hyp... OMIM:601808
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Increased bo... ORPHA:2780
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, High palate, Hearing i... ORPHA:52055
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Everted lower lip vermilion, Prolonged neonatal jaundice, Joint ... OMIM:619534
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Recombinant 8 Syndrome
Chronic otitis media, Low posterior hairline, Abnormal oral frenulum morphology, Abnormality of t... ORPHA:96167
Doors Syndrome
Broad alveolar ridges, Long philtrum, Narrow palate, Optic atrophy, Sirenomelia, Polymicrogyria, ... ORPHA:79500
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment, Cardiomegaly, Cyanosis ORPHA:391428
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Multiple joint dislocation, Dental crowding, Agenesis of permanent teeth, W... OMIM:619503
8P23.1 Microdeletion Syndrome
Thin vermilion border, Transposition of the great arteries, Atrioventricular canal defect, Abnorm... ORPHA:251071
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Low-set ears, Everted lower lip vermil... OMIM:616789
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Molar tooth sign on MRI, Low-set ears OMIM:617563
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Cerebellar atrophy ORPHA:621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Encephalocele, Hydrocephalus, Death in infancy, Cerebellar dysplasia, Partial ab... OMIM:613150
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Microtia, Exaggerated cupid's bow, Low-set ears, Prominent metopic ridge, ... OMIM:618619
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Bilateral sensori... ORPHA:275872
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation, Macrotia, Cerebell... OMIM:616300
Postsynaptic Congenital Myasthenic Syndromes
Facial palsy, Cyanosis, High palate, Decreased size of nerve terminals ORPHA:98913
Multiple Synostoses Syndrome 1
Tarsal synostosis, Proximal/middle symphalangism of 5th toe, Cubitus valgus, Short philtrum, Disl... OMIM:186500
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypoplastic helices, Death in childhood, Low-set ears, Macrotia, Coarctation of aorta, Cleft pala... OMIM:600460
Ververi-Brady Syndrome
Transposition of the great arteries, Low-set ears, Everted lower lip vermilion, High palate, Dela... OMIM:617982
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
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
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Low-set ears, Posteriorly rotated e... OMIM:619479
Waardenburg Syndrome Type 3
Tracheomalacia, Synostosis of carpal bones, Joint stiffness, Camptodactyly of finger, Hearing imp... ORPHA:896
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal midbrain morphology, Abnormal pons m... ORPHA:79139
Tarp Syndrome
Optic atrophy, Meckel diverticulum, Cerebellar vermis hypoplasia, Microtia, Low-set ears, Glossop... OMIM:311900
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis... OMIM:617168
Esophageal Atresia
Cyanosis, Laryngotracheomalacia, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Heari... ORPHA:1199
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Hypoplastic left hear... ORPHA:2001
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Polymicrogyria, Low-set ears, Anal... OMIM:264480
Phace Association
Optic atrophy, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Dandy-Walker malform... OMIM:606519
Cerebellofaciodental Syndrome
Low-set ears, Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Ventricu... OMIM:616202
Noonan Syndrome
Sensorineural hearing impairment, Thickened helices, Low-set, posteriorly rotated ears, Aplasia o... ORPHA:648
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Abnormal aortic arch morphology, Microtia, Miscarriage, Long philtrum, Large... ORPHA:96334
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Hydrocephalus, Optic nerve hypoplasia, Prominent metopic ridge, Olivopon... ORPHA:457284
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Dental crowding, Ventricular hypertrophy, Limitation of movement at... ORPHA:740
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Mixed hearing impairment, Sensorineural hearing impairment, Ventricul... ORPHA:51608
Fanconi Anemia, Complementation Group B
Cerebellar hypoplasia, Esophageal atresia, Hydrocephalus, Low-set ears, Tracheoesophageal fistula... OMIM:300514
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Orofaciodigital Syndrome V
Aganglionic megacolon, Low-set ears, High palate, Ankyloglossia, Ventricular septal defect, Heari... OMIM:174300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Joubert Syndrome 5
Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Agenesi... OMIM:610188
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Cardiomyopathy, Abnormal epiphyseal ossification, Abnormal mitr... ORPHA:580
Duplication Of The Pituitary Gland
Hearing impairment, Encephalocele, Abnormal midbrain morphology ORPHA:314621
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
Abnormal autonomic nervous system physiology, Bifid uvula, Abnormal heart morphology, Bicuspid ao... ORPHA:453499
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Webbed neck, Rectovaginal f... ORPHA:1780
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cel... ORPHA:98755
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Transposition of the great arteries, Atrioventricular canal defect, Dextr... OMIM:605376
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Abnormal heart morphology, Long philtrum, Joint hypermobility, Truncus ar... ORPHA:508488
Holt-Oram Syndrome
Abnormal coronary artery origin, Cervical C2/C3 vertebral fusion, Pulmonic stenosis, Mitral valve... OMIM:142900
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Microtia, Cleft palate, Anotia, Conotruncal defect OMIM:243440
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Acrocardiofacial Syndrome
Joint dislocation, Truncus arteriosus, Low-set ears, Anal atresia, Death in infancy, Camptodactyl... ORPHA:2008
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Cardiac Valvular Dysplasia 2
Central cyanosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, B... OMIM:620067
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology, Death in infancy, Cleft pala... OMIM:147800
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Dysgyria,... OMIM:613834
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Aortic root aneurysm, Low-set ears, Secundum atrial septal d... OMIM:619910
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Sensorineural hearing impairment, Dental crowding, Intesti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Sensorineural hearing impairment, Dental crowding, Intesti... ORPHA:353277
Arima Syndrome
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Brainstem dysplasia, Dilated fourth ventri... OMIM:243910
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Everted lower lip vermilion, Atresia of the external auditory canal, Cond... ORPHA:2316
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, Vasculitis, Arthritis, Limitation... ORPHA:343
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, Conductive hearing impairmen... OMIM:277170
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Pallister-Hall Syndrome
Microtia, Anal atresia, Preductal coarctation of the aorta, Atresia of the external auditory cana... OMIM:146510
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent otitis media, Dextrocardia, Persistent left superior vena cava,... OMIM:615067
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal midbrain morphology, Abnormal cerebellum morpho... ORPHA:68
Holt-Oram Syndrome
Atrioventricular canal defect, Patent ductus arteriosus, Abnormal aortic morphology, Ventricular ... ORPHA:392
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Low-set ears, Narrow mouth, Death in infancy, Bifid uvula, Cleft palate, Op... ORPHA:1790
Tetrasomy 9P
Abnormal earlobe morphology, Juxtaductal coarctation of the aorta, Abnormal number of permanent t... ORPHA:3310
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Tricuspid atresia, Meckel diverticulum, Stenosis of the external a... OMIM:115470
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
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o... ORPHA:555874
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Cardiomyopathy, Abnormal mitral valve morphology, Peripheral ar... ORPHA:217085
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Jaundice ORPHA:1667
Loeys-Dietz Syndrome 6
Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity, Bifid uvula, Umbilical hernia, J... OMIM:619656
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Phosphoribosylpyrophosphate Synthetase Superactivity
Sensorineural hearing impairment, Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Lo... OMIM:619343
Diamond-Blackfan Anemia 7
Osteopenia, Recurrent otitis media, Esophagitis, Osteoporosis, Hearing impairment, Atresia of the... OMIM:612562
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Descending aortic dissection, Cutis marmorata, Peripheral art... ORPHA:91387
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis, Hydrocephalus, Stroke-like episode, Cleft palate, Cerebellar malformatio... ORPHA:137675
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Cardiomyopathy, Abnormal mitral valve morphology, Peripheral ar... ORPHA:217093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Microtia, Low-set ears, Mening... OMIM:236670
Neu-Laxova Syndrome 1
Broad neck, Swollen lip, Transposition of the great arteries, Small placenta, Pterygium, Dandy-Wa... OMIM:256520
17Q24.2 Microdeletion Syndrome
Broad neck, Recurrent otitis media, Cubitus valgus, Abnormality of the wrist, Short philtrum, Too... ORPHA:529962
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Microtia, Bilateral sensorineural hearing impairment, High palate,... ORPHA:40366
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Death in infancy, Wide mouth, Umbilical hernia, Long philtrum, Abnormal tri... ORPHA:1507
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Vasculitis, Cerebellar calcifications, Cardiomyopathy, Prolonged neonatal jau... OMIM:225750
Congenital Fibrinogen Deficiency
Cyanosis, Gingival bleeding, Volvulus, Right ventricular hypertrophy, Left ventricular hypertroph... ORPHA:335
Holoprosencephaly
Solitary median maxillary central incisor, Abnormal pinna morphology, Tooth agenesis, Broad philt... ORPHA:2162
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Ventricular ... ORPHA:3405
Unilateral Polymicrogyria
Stroke, Abnormal heart morphology, Perisylvian polymicrogyria, Giant somatosensory evoked potenti... ORPHA:268943
Gangliocytoma
Abnormal brainstem morphology, Spinal cord tumor, Syringomyelia, Abnormal cerebellum morphology ORPHA:251937
Down Syndrome
Broad neck, Round ear, Microdontia, Delayed skeletal maturation, Umbilical hernia, Joint hypermob... ORPHA:870
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Delayed eruption of teeth, Aortic root aneurysm, Hyperextensibility of the ... OMIM:135500
Breath-Holding Spells
Cyanosis OMIM:607578
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Meckel Syndrome 14
Occipital encephalocele, Low-set ears, Increased nuchal translucency, Decreased calvarial ossific... OMIM:619879
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Microtia, Intestinal malrotation, Bifid uvula, Crani... OMIM:300373
Congenital Myasthenic Syndrome
Cyanosis, Sensorineural hearing impairment, Frontalis muscle weakness, Low-set ears, High palate,... ORPHA:590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sensorineural hearing impairment, Frontalis muscle weakness, Low-set ears, High palate,... ORPHA:98914
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal cyst ORPHA:18
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Intestinal obstruction, Purpura, Vasculitis, Arthritis, Transient ischemic attack, H... ORPHA:183
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Abnormal heart morphology, Umbilical hernia, Long philtrum, Craniosyno... ORPHA:2745
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, Op... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, Op... ORPHA:352665
3Mc Syndrome 1
Atrial septal defect, Lambdoidal craniosynostosis, Patent ductus arteriosus, Spina bifida occulta... OMIM:257920
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, High palate, Dextrotransposition of the great arteries, Ankle clonus, Ven... OMIM:619995
Craniosynostosis And Dental Anomalies
Chronic otitis media, Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed er... OMIM:614188
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Dandy-Walker malf... OMIM:615948
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Foam cells ORPHA:747
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Hypoxemia, Ca... ORPHA:439
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect, Esophageal atresia, Dextrocar... OMIM:314390
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Sialadenitis, Colon cancer, Abnormal fifth cranial nerve morp... ORPHA:449563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Misalignment of the pulmonary veins, Cyanosis, Death in infancy OMIM:265120
Asbestos Intoxication
Hypoxemia, Myocardial fibrosis, Cyanosis, Cor pulmonale, Oxygen desaturation on exertion ORPHA:2302
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Everted lower lip vermilion, Protruding tongue, Hearing impai... ORPHA:96147
Kawasaki Disease
Myocarditis, Cheilitis, Jaundice, Glossitis, Vasculitis, Ascending tubular aorta aneurysm, Arthri... ORPHA:2331
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta, ... ORPHA:1923
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Conductive hearing impairment, Molar tooth sign on MRI, Low-set, po... ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Unilateral facial palsy, Atrioventricular canal defect, Torticollis, Exaggerated cupid's bow, Low... OMIM:619480
Full Nf2-Related Schwannomatosis
Spinal cord tumor, Hydrocephalus, Sensorineural hearing impairment, Abnormal cerebellum morpholog... ORPHA:637
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Cleft upper lip,... OMIM:313850
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Arteriovenous fistula, Arterial dissection, Mitral valve prolapse, Umbili... ORPHA:287
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus, Patent ductu... ORPHA:2184
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Fused cervical vertebrae, Low-set ears, Narrow mouth, C... ORPHA:83617
Meckel Syndrome, Type 1
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Dandy-Walker malfor... OMIM:249000