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:
MMoxA,  Gbx-2,  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
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI OMIM:614173
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Death in infancy, Cerebellar hypoplasia, Microcephaly, Cerebral hypo... OMIM:618266
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Genitopalatocardiac Syndrome
Ventricular septal defect, Low-set ears, Double outlet right ventricle, Cleft upper lip, Cleft pa... OMIM:231060
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar dysplasia,... OMIM:604213
Catel-Manzke Syndrome
Cystic hygroma, Joint laxity, Ventricular septal defect, Camptodactyly, Abnormality of the pinna,... OMIM:616145
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Macrotia, Recurrent otitis media, Patent ductus arteriosus, Thin upper lip ... ORPHA:3304
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Wide anterior fontanel, Interrupted aortic arch, Ventricular septal defe... OMIM:616920
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Cystic hygroma, Abnormal heart morphology, Patent ductus arteriosus, ... OMIM:618164
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Low-set ears, Abnormal cerebellum morphology, Abnormal brainstem mo... ORPHA:1532
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Abnormal cochlea morpholo... ORPHA:231169
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Conductive hearing impairment, Atresia of the external ... OMIM:147770
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Conductive hearing impairment, Pierre-Robin sequence, Everted low... OMIM:617877
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Joint laxity, Abnormal heart morphology, V... ORPHA:477817
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy, Sensorineural... OMIM:616192
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Smooth philtrum, Hearing impairment, Hypoplas... ORPHA:1727
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Low-set ears, Cupped ear, Se... OMIM:602588
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal aortic arch morpholo... ORPHA:1110
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Narrow internal auditory... ORPHA:990
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atroph... OMIM:617862
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus ... OMIM:615191
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Joubert Syndrome 10
Low-set ears, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Low posterior hairline, Downturned corners of mouth, Ventricular septal def... OMIM:179613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebra... OMIM:613153
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Ventricular septal defect... OMIM:192430
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... OMIM:617622
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermili... OMIM:601927
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotat... ORPHA:2326
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Glossopharyngeal Neuralgia
Tongue pain, Abnormal palate morphology, Arnold-Chiari type I malformation, Vascular dilatation, ... ORPHA:221098
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Cerebellar hypoplasia, Hearing imp... ORPHA:207
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Narrow mouth, Ventricular septal de... ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct... OMIM:618845
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Low-set ears, Pulmonic stenosis, Aortic valve st... OMIM:220210
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Narrow palate, Ventricular septal defect, Syn... OMIM:101200
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Abnormal ... ORPHA:163961
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Hearing impairment, Right aortic arch, Situs inversus totalis OMIM:617577
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arte... ORPHA:363444
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Aplasia/Hypoplasia of the inner ear, Abnormal aortic ... ORPHA:2306
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Phaver Syndrome
Camptodactyly of finger, Radioulnar synostosis, Overfolded helix, Conductive hearing impairment, ... ORPHA:2876
Lethal Congenital Contracture Syndrome 10
Long philtrum, Narrow palate, Short neck, Ventricular septal defect, Torticollis, Cardiomegaly, O... OMIM:617022
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebellar dysplasia... ORPHA:101070
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... ORPHA:352682
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Agenesis of cerebellar... OMIM:611134
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Apert Syndrome
Conductive hearing impairment, Morphological abnormality of the semicircular canal, Sensorineural... ORPHA:87
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Neuronal loss ... OMIM:607596
Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ... OMIM:300712
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Distal Trisomy 14Q
Hearing impairment, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Narrow mouth, Overfolded helix, Patent ductus arteriosus, H... ORPHA:138
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Elongated superior cerebell... OMIM:609583
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Branchiooculofacial Syndrome
Premature graying of hair, Overfolded helix, Branchial anomaly, Pyloric stenosis, Sensorineural h... OMIM:113620
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ... ORPHA:163979
Burning Mouth Syndrome
Tongue pain, Abnormal fifth cranial nerve morphology, Parageusia, Xerostomia, Abnormality of the ... ORPHA:353253
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Sandestig-Stefanova Syndrome
Camptodactyly, Angulated antihelix, Low-set ears, Perimembranous ventricular septal defect, Oral ... OMIM:618804
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, Ab... ORPHA:52368
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Abnormality of the pinna, Anencephaly OMIM:614175
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... OMIM:608091
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Ventricular septal defect, Polymicrogyria, Knee flexion contrac... OMIM:603387
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Intestinal malrotation, Pulmonary ... OMIM:265380
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Abnormality of the spinocerebel... ORPHA:98756
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Temporal cortical atrophy, Mola... OMIM:615665
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Recurrent otitis media, Double outlet right ventricle OMIM:618254
Achondroplasia
Brain stem compression, Conductive hearing impairment, Recurrent otitis media, Megalencephaly, Hy... OMIM:100800
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Cerebral atrophy, Death in infancy, Cerebellar atrophy, Atrophy/Degeneration af... OMIM:614946
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Spina bifida, Truncus arteriosus, Ventricular septal defect, Generalized joint lax... ORPHA:508498
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal auditory... ORPHA:99852
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... OMIM:301043
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Arthrogryposis multiplex congenita, Drooling, Difficulty in tongue mo... ORPHA:268940
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Low-set ears, Elongated superior ... OMIM:608629
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Arnold-Chiari type I malformation ORPHA:73
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Atrial septal defect, Osteolysis, Sclerotic cranial sutures, Ventricular septal def... ORPHA:371428
1Q21.1 Microdeletion Syndrome
Long philtrum, Ankyloglossia, Interrupted aortic arch, Joint hyperflexibility, Patent ductus arte... ORPHA:250989
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis of corpus callosum, Typ... ORPHA:370959
Fryns Syndrome
Thickened nuchal skin fold, Long philtrum, Abnormal aortic arch morphology, Low-set, posteriorly ... ORPHA:2059
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Paucity of anterior horn motor neurons,... OMIM:611890
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Flexion contracture, Thick vermilion border, Umbilical hernia, Perim... OMIM:618651
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Atresia of the external auditory canal, Abnormality of the outer ear, Abnormal... ORPHA:3186
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Digeorge Syndrome
Right aortic arch with mirror image branching, Short philtrum, Truncus arteriosus, Interrupted ao... OMIM:188400
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Low-set, posteriorly rotated ear... ORPHA:1926
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Conductive hearing impairment, Cerebellar vermis hypoplasia, Posteriorly ... OMIM:277170
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Conductive hearing impairm... ORPHA:391641
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal midbrain morphology, Abnormal corpus cal... ORPHA:206448
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Protruding ear, Joint stif... ORPHA:1166
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Vertigo, Abnormal autonomic nervous system physiology, Abnorma... ORPHA:297
Joubert Syndrome With Renal Defect
Hydrocephalus, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Polymicrogyria, M... ORPHA:220497
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypoplasia of the corpus callosum, Abnormal upper motor neuron morphology, Cerebral cortical atro... OMIM:607694
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cuti... OMIM:615297
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Arthrogryposis multiplex congenita, Ventricular septal defect, Cerebellar hypop... OMIM:301056
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears, Cerebellar vermis h... ORPHA:2318
Joubert Syndrome 35
Low-set ears, Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth s... OMIM:618161
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Cupp... OMIM:113650
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Atrial septal defect, Wide anterior fontanel, Patent ... OMIM:614886
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal common car... ORPHA:449400
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Cerebellar hypoplasia, ... OMIM:612946
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Enlarged fossa in... OMIM:213300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Simple ear, Rhombencephalosynapsis, Hypoplasia of the corpus callosu... OMIM:619306
Distal Tetrasomy 15Q
Atrial septal defect, Craniosynostosis, Abnormal heart morphology, Camptodactyly, Flexion contrac... ORPHA:314588
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Conductive ... ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Abnormality of the pinna, Anencephaly, Low-set ears, Polymicrogyria... OMIM:616546
De Barsy Syndrome
Wormian bones, Delayed closure of the anterior fontanelle, Narrow mouth, Congenital hip dislocati... ORPHA:2962
Rare Circulatory System Disease
Abnormality of the knee, Limited wrist movement, Arterial tortuosity, Abnormal vascular morpholog... ORPHA:98028
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Hearing impairment, Anal atresia, Overriding aor... OMIM:309801
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy OMIM:215470
Williams Syndrome
Open bite, Prematurely aged appearance, Abnormal carotid artery morphology, Carious teeth, Abnorm... ORPHA:904
Perlman Syndrome
Interrupted aortic arch, Open mouth, Long upper lip, Tented upper lip vermilion, Low-set ears, Vo... OMIM:267000
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Posteri... OMIM:239711
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Overfolded helix, Low-set, posteriorly rotated ears, Ve... ORPHA:397715
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Pachygyria, Ventricular septal defect, Contractures of the joints of the lower limbs, Recurrent o... ORPHA:513456
Monosomy 18Q
Joint hypermobility, Left aortic arch with right descending aorta and right ductus arteriosus, Op... ORPHA:1600
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Macrotia, Ventriculomegaly, Cerebellar hypoplasia, Hydra... OMIM:605013
16P13.11 Microduplication Syndrome
Atrial septal defect, Craniosynostosis, Ventricular septal defect, Joint hyperflexibility, Coarct... ORPHA:261243
Joubert Syndrome With Ocular Defect
Hydrocephalus, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Polymicrogyria, M... ORPHA:220493
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncu... OMIM:610688
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Ventricular septal defect, Umbilical hernia, Low-set ears, Posteriorly rotated ears... OMIM:301040
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Low-set ears, Neonatal death, Hyd... OMIM:236500
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal cranial nerve morphology, Short neck, Ventricular septal defect, Webbed ne... ORPHA:2345
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Atrophy of the spinal cord, Cerebellar atrophy, Bilateral sensorineural hearing... ORPHA:445062
Neuralgic Amyotrophy
Acrocyanosis, Narrow mouth, Cleft palate ORPHA:2901
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasi... ORPHA:370997
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Flexion contracture, Patent ductus arteriosus, Oral cleft, Sensorineural... ORPHA:17
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Pulmonic stenosis, Perimembranous ventricular septal... OMIM:611376
Maternal Phenylketonuria
Long philtrum, Hypoplastic helices, Ventricular septal defect, Abnormal heart morphology, Esophag... ORPHA:2209
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration aff... OMIM:613477
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Overfolded helix, Webbed neck, Patent ductus arteriosus, Low... OMIM:618223
Machado-Joseph Disease Type 3
Vestibular dysfunction, Spinocerebellar tract degeneration, Abnormal lower motor neuron morpholog... ORPHA:276244
Congenital Disorder Of Glycosylation, Type Iii
Cerebral atrophy, Hearing impairment, Cerebellar atrophy, Atrophy/Degeneration affecting the brai... OMIM:613612
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Joint sti... ORPHA:2516
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy,... ORPHA:77299
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Giant Cell Arteritis
Vertigo, Glossitis, Pericarditis, Conductive hearing impairment, Impaired mastication, Hearing im... ORPHA:397
47,Xyy Syndrome
Increased circulating gonadotropin level, Cerebellar dysplasia, Low-set ears, Abnormal brainstem ... ORPHA:8
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex morphology ORPHA:411493
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Distal Monosomy 10Q
Cochlear malformation, Cerebellar hypoplasia, Abnormality of the outer ear, Morphological abnorma... ORPHA:96148
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hearing impairment, Abnormality of the diencephalon, Abnorm... ORPHA:2720
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Tetralogy... OMIM:300887
Phenobarbital Embryopathy
Low-set ears, Tetralogy of Fallot, Unilateral cleft lip, Abnormal mitral valve morphology ORPHA:1919
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Narrow mouth, Low-set, posteriorly ro... OMIM:615502
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Encephalocraniocutaneous Lipomatosis
Osteolysis, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid... ORPHA:2396
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brains... OMIM:611560
Frank-Ter Haar Syndrome
Osteoporosis, Wormian bones, Simple ear, Atrial septal defect, Wide anterior fontanel, Ventricula... OMIM:249420
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
X-Linked Intellectual Disability, Nascimento Type
Thin vermilion border, Downturned corners of mouth, Macrotia, Ventricular septal defect, Deep phi... ORPHA:163956
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
22Q11.2 Deletion Syndrome
Small earlobe, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Overfolded helix, ... ORPHA:567
Tarp Syndrome
Prominent antihelix, Small earlobe, Abnormality of the antihelix, Atrial septal defect, Abnormal ... ORPHA:2886
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Intestinal malrotation, Oral cleft, High,... ORPHA:7
Microphthalmia, Syndromic 2
Oligodontia, Asymmetry of the ears, Patent ductus arteriosus, Dextrocardia, Sensorineural hearing... OMIM:300166
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Livedo reticularis, Patent ductus arteriosus, Posterior cerebral art... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Ven... ORPHA:444072
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Progeroid Facial Appearance With Hand Anomalies
Thin vermilion border, Short philtrum, Narrow mouth, Conductive hearing impairment, Progeroid fac... OMIM:602249
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI OMIM:612285
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Arthrogryposis multiplex congenita, Cerebellar hypoplasia OMIM:616531
Distal Monosomy 15Q
Cystic hygroma, Genu valgum, Short philtrum, Mitral atresia, Double outlet right ventricle with d... ORPHA:1596
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Open mouth, Abnormal heart morphology, Ventricular septal defect, Recurrent otitis ... ORPHA:500159
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Hearing impa... ORPHA:251076
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Hearing impairment, Vertigo, Abnormal brainstem morphology ORPHA:79279
20Q13.33 Microdeletion Syndrome
Thin vermilion border, Atrial septal defect, Low-set, posteriorly rotated ears, Hypoplastic aorti... ORPHA:261311
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Osteogenesis Imperfecta, Type I
Otosclerosis, Joint hypermobility, Wormian bones, Dentinogenesis imperfecta, Recurrent fractures,... OMIM:166200
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Brain stem compression, Ventriculomegaly, Aqueductal stenosis, Menin... ORPHA:1136
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, Overfolded helix, Low-set ears, Abnormality of t... ORPHA:1913
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Vestibular dysfunction, Ventricular septal defect, Peripheral pulmonary artery stenosis, Sensorin... OMIM:617992
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Occipital meningocele, Dilated fourth ventricle... OMIM:243910
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Ventricular septal defect, Low-set,... ORPHA:1908
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal hypothalamus morphology, Abnormal midbrain morp... ORPHA:68
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Protruding t... OMIM:612938
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebel... OMIM:617822
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Situs inversus totalis, Cerebellar hypoplasia, Tetralogy of Fallot, Agenesi... OMIM:601322
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morphology, Low-set ears, Dex... ORPHA:2257
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Stapes ankylosis, Conductive hearing impairment... OMIM:185800
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology, Leukoencephalopathy OMIM:613724
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... ORPHA:261183
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Camptodactyly, Patent ductus arteriosus, Sensorineural hearing impai... OMIM:201000
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Narrow internal auditory canal, Conductive hearing impairment, Low-... ORPHA:794
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened helices, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hearing impairment, Sensorineural hearing impairment, Aplasia ... ORPHA:90024
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... OMIM:600987
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Long philtrum, Prominent antihelix, Macrotia, Joint contracture of the 5th finger, ... OMIM:614407
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Dandy-Walker malformation, Cleft palate ORPHA:217
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal upper motor neuron morphology, Basa... OMIM:221770
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Ventricular septal defect, Wide mouth, Cupped ear, Hearing impairment,... OMIM:613398
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Webbed neck, Hydranencephaly, Cleft palate OMIM:601355
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Chronic otitis media, Abnormality of the dentition, Low-set ears, Te... ORPHA:276422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Cere... OMIM:613150
Fg Syndrome Type 1
Craniosynostosis, Open mouth, Dental crowding, Stenosis of the external auditory canal, Sensorine... ORPHA:93932
Schinzel-Giedion Syndrome
Wormian bones, Camptodactyly, Abnormality of the stapes, Abnormality of the helix, High palate, S... ORPHA:798
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy OMIM:606353
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Abnormal stomach morphology, Meckel diverticulum, Anomalous o... ORPHA:141127
Oculofaciocardiodental Syndrome
Oligodontia, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Intestinal malrotati... ORPHA:2712
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Open mouth, Everted lower lip vermil... ORPHA:2077
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Lim... OMIM:184460
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Transaldolase Deficiency
Thin vermilion border, Atrial septal defect, Short philtrum, Wide anterior fontanel, Ventricular ... OMIM:606003
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Craniosynostosis, Cerebellar vermis hypoplasia, Ankle flexion contrac... ORPHA:284417
Kapur-Toriello Syndrome
Pachygyria, Ventricular septal defect, Atresia of the external auditory canal, Patent ductus arte... ORPHA:2328
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Ventricular septal defect, Conductive hearing impairment, Abnormality of the pinna, C... OMIM:214300
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Sirenomelia, Atresia of the external audi... ORPHA:79500
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Osteopetrosis, Increased bone mineral d... ORPHA:2780
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Neuronal loss in the cerebral cortex, Abnormal lower moto... ORPHA:275872
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, Coarctation of aorta, Pate... ORPHA:1120
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival fibromatosis, Patent ductus arteriosus, Hyperextensibility of... OMIM:135500
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Abnormality of the pinna, Ventricular septal defect OMIM:228940
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618652
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Patent ductus arteriosu... ORPHA:353281
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypoplastic helices, Macrotia, Absent pulmonary artery, Ventricular septal defect, Patent ductus ... OMIM:600460
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Flexion contracture, Cerebellar hypoplasia, Cerebellar dysplasia, Facial palsy, Car... OMIM:613155
Tetrasomy 5P
Long philtrum, Wide anterior fontanel, Cerebellar hypoplasia, Low-set ears, Posteriorly rotated e... ORPHA:3309
Recombinant 8 Syndrome
Downturned corners of mouth, Patent ductus arteriosus, Pulmonary artery stenosis, Low posterior h... ORPHA:96167
8P23.1 Microdeletion Syndrome
Thin vermilion border, Abnormal aortic morphology, Patent ductus arteriosus, Low-set ears, Extern... ORPHA:251071
Loeys-Dietz Syndrome 2
Craniosynostosis, Joint laxity, Generalized arterial tortuosity, Camptodactyly, Patent ductus art... OMIM:610168
Chiari Malformation Type Ii
Spina bifida, Gray matter heterotopia, Arnold-Chiari malformation, Cyanosis, Myelomeningocele, Hy... OMIM:207950
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Ubiquitin-positive cerebral inclusion bodies, Abnormal motor neuron morphology, Amyotrophic later... ORPHA:52430
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Hip subluxation, Fragile skin, Mitral valve prolapse, High, narrow palate, Elbow flexion contract... ORPHA:1900
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Livedo reticularis, Premature coronary artery atheroscleros... OMIM:611788
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Synostosis of carpal bones, Tented u... ORPHA:896
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Open mouth, Macrotia, Everted lower lip vermilion, Wide mouth, Low-set ears, Patent... OMIM:616789
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ab... ORPHA:98755
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Open mouth, Prominent metopic ridge, Olivopontocerebellar hypoplasia, Hypopl... ORPHA:457284
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Hsd10 Disease, Infantile Type
Hearing impairment, Cardiomegaly, Cyanosis, Optic atrophy, Hypertrophic cardiomyopathy ORPHA:391428
Tarp Syndrome
Prominent antihelix, Tongue nodules, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Posteri... OMIM:311900
Weiss-Kruszka Syndrome
Overfolded helix, Ventricular septal defect, Low-set ears, Cupped ear, Hearing impairment, Horizo... OMIM:618619
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Recurrent aphthous stomatitis, Vasculitis, Intestinal obstructio... ORPHA:343
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Joint laxity, Dental crowding, Patent ductus arteriosus, Sensorineural hearing impa... OMIM:612582
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Aortic Aneurysm, Familial Thoracic 10
Joint hypermobility, Dental crowding, Coronary artery atherosclerosis, Aortic root aneurysm, Bicu... OMIM:617168
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Ventricular septal defect, Holoprosencephaly, Atresia of the ... OMIM:146510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Cerebellar malformation, Pachygyria, Type II lissencephaly, Agenesis... OMIM:236670
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Wormian bones, Epiphyseal stippling, Narrow mouth, Camptodactyly, Spinal dysraphism, Interphalang... ORPHA:96334
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
Fanconi Anemia, Complementation Group B
Short neck, Ventricular septal defect, Overfolded helix, Death in infancy, Patent ductus arterios... OMIM:300514
Ehlers-Danlos Syndrome, Classic Type, 1
Joint hypermobility, Poor wound healing, Irregularly spaced teeth, Hyperextensibility of the knee... OMIM:130000
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Atrial septal defect, Arnold-Chiari malformation, Ventricular septal defect, Abnor... OMIM:617159
Hemifacial Microsomia
Anotia, Arnold-Chiari malformation, Unilateral external ear deformity, Branchial anomaly, Ventric... OMIM:164210
Thakker-Donnai Syndrome
Short neck, Narrow mouth, Downturned corners of mouth, Ventricular septal defect, Macrotia, Webbe... ORPHA:1780
Contractural Arachnodactyly, Congenital
Crumpled ear, Camptodactyly, Patent ductus arteriosus, Wrist flexion contracture, Aortic root ane... OMIM:121050
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Orofaciodigital Syndrome Xvi
Low-set ears, Ventriculomegaly, Molar tooth sign on MRI OMIM:617563
Postsynaptic Congenital Myasthenic Syndromes
High palate, Cyanosis, Facial palsy, Decreased size of nerve terminals ORPHA:98913
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Abnormal cerebellum morphology OMIM:601162
Mucopolysaccharidosis Type 2
Papilledema, Sensorineural hearing impairment, Abnormal epiphyseal ossification, Cardiomyopathy, ... ORPHA:580
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Bilateral cleft lip and palate, Intestinal ... ORPHA:2001
Ververi-Brady Syndrome
Macrotia, Everted lower lip vermilion, Wide mouth, Smooth philtrum, Low-set ears, Cupped ear, Thi... OMIM:617982
Progressive Non-Fluent Aphasia
Abnormal cerebral white matter morphology, Temporal cortical atrophy, Abnormal lower motor neuron... ORPHA:100070
Isotretinoin Embryopathy-Like Syndrome
Anotia, Cleft palate, Hydrocephalus, Microtia, Conotruncal defect OMIM:243440
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Thin vermilion border, Short philtrum, Abnormal heart morphology, Dental crowding, Cerebellar cys... OMIM:618343
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Intestinal malrotation, Dextrocardia, Double outlet right ventricle, Meso... OMIM:605376
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, High-frequency sensorineural hearing impairment, Abnormal lower... ORPHA:2590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Pachygyria, Type II lissencephaly, Myocardial fibrosis, Cerebellar cyst, Ho... OMIM:253800
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Everted low... ORPHA:2316
Esophageal Atresia
Esophagitis, Ventricular septal defect, Excessive salivation, Intestinal malrotation, Cleft palat... ORPHA:1199
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Joint hypermobility, Craniosynostosis, Overfolded helix, Patent ductus arteriosus, Peripheral pul... OMIM:617506
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Phace Association
Anomalous branches of internal carotid artery, Arterial stenosis, Ventricular septal defect, Pate... OMIM:606519
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of the p... OMIM:615948
Multiple Synostoses Syndrome 1
Dislocated radial head, Short philtrum, Cubitus valgus, Tarsal synostosis, Stapes ankylosis, Prox... OMIM:186500
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, High palate, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic... OMIM:616166
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Joint hypermobility, Narrow palate, Narrow mouth, Joint laxity, Dental crowdin... OMIM:180849
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Ventricular hypertrophy, Narrow mouth, Dental crow... ORPHA:740
Orofaciodigital Syndrome Xvii
Low-set ears, Hearing impairment, Tetralogy of Fallot, High, narrow palate, Short neck, Prominent... OMIM:617926
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Cardiomegaly, Micr... OMIM:601005
Hypermobile Ehlers-Danlos Syndrome
Wormian bones, Elbow dislocation, Gingivitis, Ascending tubular aorta aneurysm, Osteoarthritis, A... ORPHA:285
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal midbrain morphology, Abnormal hypothalamus morpholog... ORPHA:314621
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Dea... ORPHA:2008
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormal hip joint morphology, Pericardial effusion, Sensorineural heari... ORPHA:51608
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Coach Syndrome 1
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis OMIM:216360
Aase-Smith Syndrome I
Open mouth, Ventricular septal defect, Flexion contracture, Death in infancy, Abnormality of the ... OMIM:147800
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Charge Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Lop ear, Anal stenosis, Arrhinencephaly,... OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Patent ductus arteriosu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Narrow palate, Joint laxity, Dental crowding, Natal tooth, Patent ductus arteriosu... ORPHA:353277
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormal aortic morphology, Flexion contracture, Recurrent fractures, Bone pain... ORPHA:1306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Craniosynostosis, Branchial anomaly, Open mouth, Downturned corners of mouth, Abnorm... ORPHA:453499
Apnea, Central Sleep
Cyanosis OMIM:207720
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Optic disc coloboma, Patent ductus arteriosus, Abnormality of the pinn... ORPHA:52055
Leopard Syndrome 3
Cubitus valgus, Low posterior hairline, Abnormal mitral valve morphology, Webbed neck, Abnormal a... OMIM:613707
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Sensorineural hearing impairment, Cardiomyopathy ORPHA:3222
Tetrasomy 9P
Abnormal dental enamel morphology, Pericarditis, Downturned corners of mouth, Dental crowding, Ja... ORPHA:3310
Loeys-Dietz Syndrome 4
Arterial tortuosity, Protrusio acetabuli, Aortic tortuosity, Joint laxity, Mitral valve prolapse,... OMIM:614816
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Radioulnar synostosis, Ventricular septa... ORPHA:392
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Endocarditis, Purpura, Abnormal pericardium morphology, Arthritis, Cutis marmorata,... ORPHA:183
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, High... ORPHA:2919
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Radioulnar synostosis, Ventricular septal defect, Conductive hearing imp... OMIM:154400
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Tetralogy of Fallot, Anal atresia, Abnormal palate morphology ORPHA:1381
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Short neck, ... OMIM:256520
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Sensorineural hearing impairment, Cardiomyopathy, Macroglossia, Abnormality of denta... ORPHA:217085
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation, Macrotia OMIM:616300
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Sensorineural hearing impairment, Cardiomyopathy, Macroglossia, Abnormality of denta... ORPHA:217093
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Classical Ehlers-Danlos Syndrome
Arteriovenous fistula, Prematurely aged appearance, Pulp calcification, Joint swelling, Phalangea... ORPHA:287
Acitretin/Etretinate Embryopathy
Cupped ear, Median cleft palate, Bilateral sensorineural hearing impairment, Atrioventricular can... ORPHA:40366
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Jaundice, Hearing im... OMIM:612726
Wolcott-Rallison Syndrome
Jaundice, Double outlet right ventricle, Atrial septal defect ORPHA:1667
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of the antihelix, Branchial anomaly, Spinal dys... ORPHA:2162
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hyperoxaluria, Primary, Type I
Acrocyanosis, Bone pain, Increased bone mineral density, Pathologic fracture, Peripheral arterial... OMIM:259900
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Short philtrum, Atrial septal defect, Joint laxity, Open mouth, Ventricular septal defect, Campto... OMIM:301039
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Overfolded helix, Dental crowding, Camptodactyly, Nat... OMIM:300373
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Arterial Tortuosity Syndrome
Long philtrum, Hiatus hernia, Ventricular hypertrophy, Aortic tortuosity, Joint laxity, Generaliz... OMIM:208050
Noonan Syndrome 2
Cubitus valgus, Atrial septal defect, Arthrogryposis multiplex congenita, Low posterior hairline,... OMIM:605275
Breath-Holding Spells
Cyanosis OMIM:607578
Neurofibromatosis Type 2
Brain stem compression, Bilateral vestibular Schwannoma, Spinal cord tumor, Myelopathy, Abnormal ... ORPHA:637
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Conductive hearing impairment,... ORPHA:2754
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Narrow mouth, Contracture of the distal interphalangeal joint of the fingers, Low-set ears, Perim... ORPHA:83617
Diamond-Blackfan Anemia 7
Osteoporosis, Esophagitis, Ventricular septal defect, Secundum atrial septal defect, Atresia of t... OMIM:612562
3Mc Syndrome 1
Conjunctival telangiectasia, Atrial septal defect, Lambdoidal craniosynostosis, Radioulnar synost... OMIM:257920
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Duane Retraction Syndrome
Narrow internal auditory canal, External ear malformation, Hearing impairment, Stenosis of the ex... ORPHA:233
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Short philtrum, Patent ductus arteriosus after birth at term, Tooth... ORPHA:529962
Opitz Gbbb Syndrome, Type Ii
Craniosynostosis, Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellar vermis, High pal... OMIM:145410
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Agenesis of cerebellar vermis, Molar tooth sign on MRI, A... OMIM:610188
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Esophageal atresia, Coarctation of aorta, ... ORPHA:1923
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Short philtrum, Contracture of the proximal interphalangeal joint of the 5th finger, Ventricular ... OMIM:280000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Cyanosis, Death in infancy, Misalignment of the pulmonary veins OMIM:265120
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal periventricular white matter morphology, Degener... ORPHA:1145
Alzahrani-Kuwahara Syndrome
Long philtrum, Atrial septal defect, Macrotia, Ventricular septal defect, Pulmonary artery sling,... OMIM:619268
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer... ORPHA:83597
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Unilateral Polymicrogyria
Infantile sensorineural hearing impairment, Abnormal heart morphology, Pulmonary arteriovenous ma... ORPHA:268943
Autosomal Recessive Robinow Syndrome
Open bite, Downturned corners of mouth, Elbow dislocation, Death in infancy, Oral cleft, Exaggera... ORPHA:1507
Congenital Myasthenic Syndrome
Arthrogryposis multiplex congenita, Congenital hip dislocation, Joint laxity, Low-set ears, Front... ORPHA:590
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Bruising susceptibility, Patent ductus arteriosus, Umbilical herni... OMIM:614557
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, Congenital hip dislocation, Joint laxity, Low-set ears, Front... ORPHA:98914
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Volvulus, Subcutaneous hemorrhage, C... ORPHA:335
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus, Communicating h... ORPHA:2184
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Noonan Syndrome 10
Cubitus valgus, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Webbed ... OMIM:616564
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Lewy bodies OMIM:614298
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology OMIM:263570
Igg4-Related Ophthalmic Disease
Sialadenitis, Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve morphology, Eosino... ORPHA:449563
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells, Hypoxemia, Cyanosis ORPHA:747
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Aganglionic megacolon, ... ORPHA:210122
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Protruding tongue, Hearin... ORPHA:96147
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Cheilitis, Palmoplantar erythema, Jaund... ORPHA:2331
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal... ORPHA:2847
Hereditary Methemoglobinemia
Cyanosis, Lip discoloration, Cerebellar atrophy ORPHA:621
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Craniosynostosis, Narrow mouth, Optic disc coloboma, Death in infancy, Pate... ORPHA:1790
Opitz Gbbb Syndrome
Craniosynostosis, Natal tooth, Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellar ver... ORPHA:2745
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Craniosynostosis, ... OMIM:609192
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Fontaine Progeroid Syndrome
Prematurely aged appearance, Oligodontia, Craniosynostosis, Narrow mouth, Periventricular heterot... OMIM:612289
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Noonan Syndrome 3
Cystic hygroma, Left unilambdoid synostosis, Thickened helices, Atrial septal defect, Ventricular... OMIM:609942
8Q24.3 Microdeletion Syndrome
Asymmetry of the ears, Joint laxity, Congenital hip dislocation, Branchial cyst, Patent ductus ar... ORPHA:508488
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Ventricular septal defect, Cupped ear, Anal atresia, Microtia, first degree... OMIM:600123
Distal 22Q11.2 Microduplication Syndrome
Abnormality of the antihelix, Optic disc coloboma, Patent ductus arteriosus, Abnormality of the h... ORPHA:261337
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem m... ORPHA:88619
8P Inverted Duplication/Deletion Syndrome
Long philtrum, Abnormal heart morphology, Macrotia, Everted lower lip vermilion, High, narrow pal... ORPHA:96092
Chime Syndrome
Pulmonary valve atresia, Short philtrum, Osteolysis, Abnormality of dental morphology, Ventricula... ORPHA:3474
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Vertigo, Brain stem compression, Arnold-Chiari type... ORPHA:268882
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Sensorineural hearing impairment, Amyotrophic lateral sclerosis OMIM:615911
Thoracoabdominal Syndrome
Cystic hygroma, Patent ductus arteriosus, Anencephaly, Ectopia cordis, Cleft upper lip, Cleft pal... OMIM:313850
Histiocytoid Cardiomyopathy
Cerebellar malformation, Ventricular septal defect, Cardiomegaly, Cleft palate, Cyanosis, Optic a... ORPHA:137675
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft upper lip, Cleft palate, Tetralogy of ... OMIM:153400
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Hypoxemia, Cyanosis ORPHA:2302
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormal aortic morphology, Death in infancy, Pulmonary art... ORPHA:991
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears, Dilated fourth ventricle, D... ORPHA:434179
Mckusick-Kaufman Syndrome
Atrial septal defect, Tarsal synostosis, Ventricular septal defect, Aganglionic megacolon, Patent... ORPHA:2473
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Kleefstra Syndrome
Delayed eruption of teeth, Thickened helices, Macroglossia, Downturned corners of mouth, Ventricu... ORPHA:261494
Aicardi-Goutières Syndrome
Acrocyanosis, Moyamoya phenomenon, Calcification of the aorta, Arrhinencephaly, Prolonged neonata... ORPHA:51
Dravet Syndrome
Limited knee extension, Cyanotic episode, Limited neck range of motion, Drooling ORPHA:33069
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Total anomalous pulmonary v... ORPHA:487796
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Cerebellar dysplasia, Biventricular hypertrophy OMIM:250951
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Spina bifida, Atrial septal defect, Ventricular septal defect, Carpal bone h... OMIM:274000
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:444013
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low posterior hairline, Wide anterior fontanel, Complete atrioventricular canal defect, Decreased... OMIM:617925
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Mosaic Trisomy 16
Meckel diverticulum, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:1708
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Transposit... OMIM:314390
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition, Hearing impairment, Cardio... ORPHA:349
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects