Gene: 2700049A03Rik MGI:1924217

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RIKEN cDNA 2700049A03 gene
Synonyms:
Ta3,  talpid3

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 2700049A03Rik 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.

The table below shows human diseases associated to 2700049A03Rik by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Biparietal narrowing, Encephalocele ORPHA:475
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Atrial septal defect, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anen... OMIM:616546
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Frontal bossing, Occipital encephalocele ORPHA:397715
Joubert Syndrome 23
OMIM:616490

The table below shows human diseases predicted to be associated to 2700049A03Rik by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Bradycardia, Flat occiput ORPHA:2898
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Gómez-López-Hernández Syndrome
Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dilated cardiomyopathy, Brachycephaly, Hydrocephalus, Dolichocephaly ORPHA:272
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly, Occipital encephalocele OMIM:614416
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Ventricular septal defect, Atrial septal defect, Frontal bossing, Patent ductus ar... OMIM:618330
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Ventricular septal defect, Brachycephaly, Hydrocephalus, Abnormal shape of th... OMIM:218350
Lessel-Kreienkamp Syndrome
Plagiocephaly, Scaphocephaly, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, ... OMIM:619149
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Prominent occiput, Ventricula... OMIM:220210
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput OMIM:618736
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing ORPHA:1695
Potocki-Shaffer Syndrome
Brachycephaly, Hypertension, Parietal foramina ORPHA:52022
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Craniosynostosis, Patent ductus art... ORPHA:171839
Neurogenic Arthrogryposis Multiplex Congenita
Abnormal heart morphology, Scaphocephaly, Plagiocephaly, Oligohydramnios ORPHA:1143
Pentasomy X
Plagiocephaly, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:11
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly ORPHA:2528
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Brachycephaly, Abnormal heart morphology, Congestive heart failure ORPHA:70472
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly OMIM:309545
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Dolichocephaly, Brachycephaly, Plagiocephaly OMIM:615433
8Q12 Microduplication Syndrome
Brachycephaly, Atrial septal defect, Ventricular septal defect ORPHA:228399
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Brachycephaly, Plagiocephaly, Unilambdoid synostosis OMIM:618577
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Calvarial skull defect, Oligohydramnios, Encephalocele, Brachycephaly, ... ORPHA:228390
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Polyhydramnios, Plagiocephaly ORPHA:521390
Bardet-Biedl Syndrome 8
Brachycephaly, Situs inversus totalis OMIM:615985
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ventricular septal defect ORPHA:94066
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Double outlet right ventricle, Atr... OMIM:179613
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sep... ORPHA:500159
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis, Cranial asymmetry ORPHA:137634
German Syndrome
Lymphedema, Tetralogy of Fallot, Brachycephaly, Abnormal cardiac septum morphology, Dolichocephaly ORPHA:2077
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly OMIM:618774
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Plagiocephaly, Bicuspid aortic valve, Brachycephaly, Atrial septal defect... OMIM:619721
Band Heterotopia
Plagiocephaly, Hydrocephalus OMIM:600348
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, Brachycephaly, Frontal bossing OMIM:617364
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Brachycephaly ORPHA:1514
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Umbilical hernia OMIM:615834
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Mitral valve prolapse, Patent foramen ovale, Brachycephaly, Frontal bossing OMIM:615539
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Brachycephaly OMIM:300590
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sep... ORPHA:369891
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Transposition of the great arterie... ORPHA:1913
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Delayed eruption of teeth, Facial hyperostosis, Thickened calvaria, Brachy... ORPHA:2780
Houge-Janssens Syndrome 3
Plagiocephaly, Umbilical hernia, Muscular ventricular septal defect, Atrial septal defect, Fronta... OMIM:618354
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus ... OMIM:617751
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:600325
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Patent foramen ovale, Brachycephaly, Transposition of the great arteries, Frontal ... OMIM:616789
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput OMIM:618672
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Trigonocephaly, Brachycephaly, Dolichocephaly, Flat occiput OMIM:613792
Even-Plus Syndrome
Brachycephaly, Oligohydramnios, Atrial septal defect, Patent foramen ovale OMIM:616854
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachycephaly, Oligohydramnios, Turricephaly ORPHA:2145
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Brachycephaly, Spina bifida ORPHA:1327
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:612582
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Plagiocephaly ORPHA:544469
Cooper-Jabs Syndrome
Brachycephaly, Umbilical hernia, Frontal bossing, Ventricular septal defect ORPHA:1488
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Nonimmune hydrops fetalis, Decreased calvarial ossification, Crani... OMIM:618265
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Polyhydramnios, Brachycephaly, Plagiocephaly, Increased nuchal translucency OMIM:618862
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Tetralogy of Fallot, Per... OMIM:201000
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing ORPHA:207
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... OMIM:604757
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Brachycephaly, Atrial septal defect, Hypoplastic right heart, Patent d... OMIM:618142
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly ORPHA:93262
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, A... ORPHA:459061
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Pierpont Syndrome
Brachycephaly ORPHA:487825
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Increased nuchal translucency ORPHA:77300
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Cranial asymme... OMIM:614886
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Patent foramen ovale OMIM:618821
Pierpont Syndrome
Brachycephaly OMIM:602342
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Natal tooth, Umbilical hernia, Abnormal heart morphology, Brachycephaly ORPHA:261652
Clark-Baraitser Syndrome
Dolichocephaly, Brachycephaly OMIM:617752
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly ORPHA:320385
Coffin-Siris Syndrome 6
Plagiocephaly, Frontal bossing, Atrial septal defect OMIM:617808
Congenital Disorder Of Glycosylation, Type Il
Ascites, Brachycephaly, Atrial septal defect, Pericardial effusion, Hydrops fetalis, Frontal bossing OMIM:608776
Monosomy 18P
Brachycephaly, Holoprosencephaly, Hypertension, Lymphedema ORPHA:1598
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly OMIM:615031
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Cloverleaf skull OMIM:602849
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly, Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Craniofrontonasal Dysplasia
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:1520
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Umbilical hernia, Abnormal mitral valve morphology, Brachycephaly, Atrial septal... ORPHA:1292
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Contractural Arachnodactyly, Congenital
Scaphocephaly, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid a... OMIM:121050
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Kleefstra Syndrome 2
Plagiocephaly OMIM:617768
Achondrogenesis, Type Ii
Brachycephaly, Stillbirth, Polyhydramnios, Hydrops fetalis, Frontal bossing, Edema OMIM:200610
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly OMIM:309541
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Chromosome 2Q37 Deletion Syndrome
Brachycephaly, Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Dysplastic pulmonary valve OMIM:300958
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Brachycephaly, Oligohydramnios, Polyhydramnios OMIM:263210
Pontocerebellar Hypoplasia, Type 3
Brachycephaly OMIM:608027
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:53271
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616801
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Trigonocephaly, Encephalocele, Advanced eruption of teeth, Brachycepha... OMIM:619148
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Brachycephaly, Ventricular septal defect ORPHA:3306
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
X-Linked Intellectual Disability, Sutherland-Haan Type
Brachycephaly ORPHA:93950
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Brachycephaly, Arrhythmia,... ORPHA:254346
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Alagille Syndrome
Frontal bossing, Ventricular septal defect, Brachycephaly, Telangiectasia of the skin, Atrial sep... ORPHA:52
Grant Syndrome
Brachycephaly, Frontal bossing ORPHA:2097
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Brachycephaly, Patent ductus arteriosus OMIM:609757
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly OMIM:615419
Pseudodiastrophic Dysplasia
Brachycephaly, Frontal bossing OMIM:264180
Frontonasal Dysplasia 2
Parietal foramina, Calvarial skull defect, Oligohydramnios, Encephalocele, Anterior plagiocephaly... OMIM:613451
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Flat occiput ORPHA:2511
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly OMIM:620688
Laurence-Moon Syndrome
Brachycephaly ORPHA:2377
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Prominent occiput, Ventricular septal defect, Atrial septal defect, Polyhydramnios... OMIM:617360
ERI1-related disease
Tricuspid regurgitation, Trigonocephaly, Abnormal heart morphology, Ventricular septal defect, Br... OMIM:608739
Lujan-Fryns Syndrome
Brachycephaly, Atrial septal defect ORPHA:776
Desanto-Shinawi Syndrome
Brachycephaly OMIM:616708
Hallermann-Streiff Syndrome
Natal tooth, Thin calvarium, Scaphocephaly, Telangiectasia, Hypertension, Parietal bossing, Brach... OMIM:234100
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly OMIM:615761
Bresek Syndrome
Plagiocephaly, Hydrocephalus, Neonatal death ORPHA:85284
Cornelia De Lange Syndrome 5
Brachycephaly OMIM:300882
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Brachycephaly, Ventricular septal defect, Atrial septal defect, Flat occiput OMIM:617452
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Brachycephaly, Skull asymmetry, Turricephaly OMIM:601853
Smith-Magenis Syndrome
Abnormal heart morphology, Brachycephaly OMIM:182290
Fg Syndrome Type 1
Plagiocephaly, Umbilical hernia, Prominent occiput, Mitral valve prolapse, Pulmonary arterial hyp... ORPHA:93932
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Frontal bossing OMIM:615828
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Plagiocephaly, Atrial septal defect, Flat occiput OMIM:619383
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translu... ORPHA:453499
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Secundum atrial septal defect, Frontal bossing OMIM:608688
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Noonan Syndrome 13
Plagiocephaly, Lymphedema, Mitral regurgitation, Mitral valve prolapse, Atrial septal defect OMIM:619087
Kury-Isidor Syndrome
Brachycephaly, Frontal bossing, Ventricular septal defect OMIM:619762
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Brachycephaly, Atrial septal defect, Polyhydramnios, Craniosynostosis, Patent duc... ORPHA:1790
6Q25 Microdeletion Syndrome
Plagiocephaly ORPHA:251056
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... OMIM:123500
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Brachycephaly OMIM:268850
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Brachycephaly, Ventricular septal defect, Atrial septal defect, Flat occiput ORPHA:505237
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly ORPHA:1387
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Frontal bossing, Umbilical hernia OMIM:219150
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly OMIM:613174
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Pleural effusion, Hydrocephalus, Pericardial effusion, Edema OMIM:617822
Chromosome 17P13.1 Deletion Syndrome
Plagiocephaly, Umbilical hernia, Oligohydramnios, Turricephaly, Brachycephaly, Spina bifida, Hydr... OMIM:613776
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicusp... ORPHA:457279
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:618430
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Atrial septal defect, Hydro... OMIM:207410
Xq28 (MECP2) duplication
Brachycephaly DECIPHER:45
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Brachycepha... ORPHA:96147
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly, Patent ductus arteriosus, Umbilical hernia ORPHA:2095
2Q32Q33 Microdeletion Syndrome
Brachycephaly ORPHA:251019
Houge-Janssens Syndrome 2
Plagiocephaly, Hydrocephalus OMIM:616362
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Frontal bossing, Anterior plagiocephaly ORPHA:163649
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing, Patent ductus arteriosus OMIM:619293
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Polyhydramnios, Plagiocephaly, Hydrocephalus OMIM:619833
49,Xxxxy Syndrome
Pulmonary embolism, Delayed eruption of teeth, Azoospermia, Brachycephaly, Holoprosencephaly ORPHA:96264
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly OMIM:618089
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Plagiocephaly, Frontal bossing, Atrial septal defect OMIM:619720
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Brachycephaly, Atrial septal defect, Patent ductus arteriosus, Pulmoni... ORPHA:435638
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Polyhydramnios, Brachycephaly, Plagiocephaly, Frontal bossing OMIM:617296
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Turricephaly, Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios, Frontal ... OMIM:613603
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing ORPHA:420179
Frontofacionasal Dysplasia
Brachycephaly, Encephalocele ORPHA:1791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Brachycephaly, Ventricular septal defect ORPHA:404440
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Ventricular septal defect, Atrial septal defect, Craniosynostosis, Patent ductus a... ORPHA:457193
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Tricuspid valve p... ORPHA:1101
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Brachycephaly, Ventricular septal defect OMIM:619995
Chopra-Amiel-Gordon Syndrome
Brachycephaly OMIM:619504
Beck-Fahrner Syndrome
Cardiomegaly, Brachycephaly, Ventricular septal defect OMIM:618798
Distal Deletion 10Q
Spina bifida occulta, Brachycephaly, Atrial septal defect, Craniosynostosis, Frontal bossing, Pat... ORPHA:96148
Stevenson-Carey Syndrome
Brachycephaly, Atrial septal defect OMIM:611961
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta, Plagiocephaly OMIM:619227
Apert Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Delayed eruption of te... OMIM:101200
Trisomy 20P
Plagiocephaly, Umbilical hernia, Brachycephaly, Spina bifida, Dolichocephaly, Frontal bossing ORPHA:261318
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Hydrocephalus OMIM:109120
Pde4D Haploinsufficiency Syndrome
Thickened calvaria, Hypotension, Brachycephaly, Frontal bossing ORPHA:439822
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly OMIM:218000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Brachycephaly, Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Menkes Disease
Brachycephaly, Intracranial hemorrhage OMIM:309400
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Brachycephaly, Polyhydramnios, Communicating hydrocephalus, Frontal bossing, Pa... OMIM:618188
Al Kaissi Syndrome
Brachycephaly, Atrial septal defect OMIM:617694
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Atrial septal defect, Anterior plagiocephaly, Left unicoronal synostosis OMIM:614749
Acromelic Frontonasal Dysplasia
Brachycephaly, Encephalocele, Meningocele ORPHA:1827
Intellectual Disability-Strabismus Syndrome
Polyhydramnios, Patent ductus arteriosus, Plagiocephaly, Atrial septal defect ORPHA:363528
Aica-Ribosiduria
Brachycephaly ORPHA:250977
48,Xxxy Syndrome
Brachycephaly, Azoospermia, Pulmonary embolism, Delayed eruption of teeth ORPHA:96263
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Wieacker-Wolff Syndrome, Female-Restricted
Polyhydramnios, Brachycephaly OMIM:301041
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Brachycephaly, Skull asymmetry, Lobar holoprosencephaly OMIM:614701
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent du... OMIM:265380
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Ventricular septal defect OMIM:620073
Kleefstra Syndrome 1
Brachycephaly, Persistence of primary teeth, Natal tooth, Conotruncal defect OMIM:610253
2Q23.1 Microdeletion Syndrome
Brachycephaly ORPHA:228402
Kleefstra Syndrome
Delayed eruption of teeth, Tetralogy of Fallot, Ventricular septal defect, Advanced eruption of t... ORPHA:261494
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Smith-Magenis Syndrome
Brachycephaly, Frontal bossing, Delayed eruption of primary teeth ORPHA:819
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Brachycephaly, ... OMIM:245600
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Brachycephaly, Atrial septal def... OMIM:610759
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Oligohydramnios, Telangiectasia, Brachycephaly, Abnormal parietal bone morphology ORPHA:247262
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Frontal bossing ORPHA:371364
Faciocardiorenal Syndrome
Endocardial fibroelastosis, Tricuspid valve prolapse, Plagiocephaly ORPHA:1973
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... OMIM:603116
Phosphoribosylaminoimidazole Carboxylase Deficiency
Polyhydramnios, Brachycephaly, Neonatal death OMIM:619859
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly OMIM:618828
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Abnormal heart morphology, Plagiocephaly, Hydrocephalus OMIM:239300
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Occipital meningocele, Parietal bossing, H... OMIM:610828
Antley-Bixler Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly ORPHA:83
Martsolf Syndrome 1
Cardiac arrest, Brachycephaly, Cardiomyopathy, Congestive heart failure OMIM:212720
Larsen-Like Syndrome
Brachycephaly, Frontal bossing OMIM:608545
Multiple Pterygium-Malignant Hyperthermia Syndrome
Polyhydramnios, Advanced eruption of teeth, Plagiocephaly, Dolichocephaly ORPHA:2215
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Brachycephaly, Patent duc... OMIM:277600
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Umbilical hernia, Mitral regurgitation, Ventricu... OMIM:608328
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Momo Syndrome
Brachycephaly, Frontal bossing, Delayed eruption of teeth OMIM:157980
Trisomy 9P
Impacted tooth, Brachycephaly ORPHA:236
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly ORPHA:1173
Ritscher-Schinzel Syndrome 4
Brachycephaly, Plagiocephaly OMIM:619435
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Multiple unerupted teeth, Plagiocephaly ORPHA:2063
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis ORPHA:93258
Hunter-Macdonald Syndrome
Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Mitral valve prolapse, Bicuspid aor... OMIM:611962
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Cleidocranial Dysplasia
Spina bifida occulta, Brachycephaly, Frontal bossing, Delayed eruption of teeth ORPHA:1452
Mesomelic Dysplasia, Nievergelt Type
Dolichocephaly, Brachycephaly ORPHA:2633
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Plagiocephaly, Mitral regurgitation, Sinus bradycardia OMIM:261990
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Plagiocephaly OMIM:615471
Sweeney-Cox Syndrome
Patent foramen ovale, Brachycephaly, Polyhydramnios, Patent ductus arteriosus, Flat occiput OMIM:617746
De Barsy Syndrome
Delayed eruption of teeth, Umbilical hernia, Ventricular septal defect, Brachycephaly, Patent duc... ORPHA:2962
Raine Syndrome
Plagiocephaly, Natal tooth, Brachyturricephaly, Neonatal death, Brachycephaly, Hydrocephalus OMIM:259775
Lig4 Syndrome
Brachycephaly, Telangiectasia of the skin, Biparietal narrowing ORPHA:99812
Hoxha-Aliu Syndrome
Brachycephaly, Atrial septal defect, Perimembranous ventricular septal defect OMIM:620662
Acrodysostosis
Brachycephaly, Frontal bossing, Delayed eruption of teeth ORPHA:950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Encephalocele, Exencephaly, Flat occiput ORPHA:2211
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Plagiocephaly, Atrial septal defect ORPHA:251061
20Q11.2 Microduplication Syndrome
Periorbital edema, Trigonocephaly, Brachycephaly, Palpebral edema ORPHA:363659
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Advanced eruption of teeth, Bra... ORPHA:1519
Hamamy Syndrome
Prolonged QRS complex, Mitral regurgitation, Complete atrioventricular canal defect, Brachycephal... OMIM:611174
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Brachycephaly OMIM:300260
Fucosidosis
Cardiomegaly, Brachycephaly ORPHA:349
Mosaic Variegated Aneuploidy Syndrome 1
Oligohydramnios, Brachycephaly, Hydrocephalus, Atrial septal defect, Pulmonic stenosis OMIM:257300
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly, Oligohydramnios, Delayed eruption of teeth, Ventricular septal defect OMIM:619229
Distal Deletion 3P
Atrioventricular canal defect, Brachycephaly, Umbilical hernia ORPHA:1620
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly, Ventricular septal defect OMIM:617798
Cerebrooculonasal Syndrome
Proboscis, Encephalocele, Brachycephaly, Hydrocephalus, Craniosynostosis, Frontal bossing OMIM:605627
White-Sutton Syndrome
Brachycephaly, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:616364
Cartilage-Hair Hypoplasia
Spinal dysraphism, Cardiomyopathy, Brachycephaly, Abnormal cardiac septum morphology, Heart block ORPHA:175
X-Linked Intellectual Disability, Wilson Type
Brachycephaly ORPHA:85290
Aymé-Gripp Syndrome
Plagiocephaly, Brachycephaly, Hydrocephalus, Pericardial effusion, Craniosynostosis, Patent ductu... ORPHA:1272
Alg9-Cdg
Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnios, Ventricular septal defect, B... ORPHA:79328
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Brachycephaly, Polyhydramnios, Mitral regurgitation ORPHA:261349
Opitz-Kaveggia Syndrome
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Hydrocephalus, Frontal bossing OMIM:305450
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Plagiocephaly, Telangiectasia, Brachycephaly, Patent ductus arteriosus ORPHA:495818
Momo Syndrome
Brachycephaly, Frontal bossing, Delayed eruption of teeth ORPHA:2563
Baller-Gerold Syndrome
Brachycephaly, Frontal bossing, Brachyturricephaly, Abnormal cardiac septum morphology ORPHA:1225
Cerebrooculonasal Syndrome
Brachycephaly ORPHA:66625
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput OMIM:618797
19P13.13 Microdeletion Syndrome
Dolichocephaly, Brachycephaly, Increased nuchal translucency ORPHA:357001
9P13 Microdeletion Syndrome
Brachycephaly, Umbilical hernia ORPHA:324313
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly OMIM:619188
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Plagiocephaly, Delayed eruption of teeth, Umbilical hernia, Tetralogy of Fallot, Ventricular sept... OMIM:280000
Loeys-Dietz Syndrome 5
Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Brachycephaly, Atrial sept... OMIM:615582
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Atrioventricular canal defect, Spina bifida, Dolichocephaly, Frontal bossing, Pate... OMIM:619480
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly ORPHA:364028
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:500055
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Plagiocephaly, Flat occiput ORPHA:300570
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Flat occiput ORPHA:2707
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Tetralogy of Fallot, Complete atrioventricular canal defect, Decreased calvarial oss... OMIM:617925
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cranial hyperostosis, Umbilical hernia, Mitral regurgitation, Thickened cal... ORPHA:309282
Cranioectodermal Dysplasia 2
Plagiocephaly, Patent foramen ovale, Hypertension, Dolichocephaly, Left ventricular hypertrophy, ... OMIM:613610
Chromosome 15Q11.2 Deletion Syndrome
Abnormal heart morphology, Plagiocephaly OMIM:615656
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Acrofrontofacionasal Dysostosis 2
Brachycephaly OMIM:239710
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Au-Kline Syndrome
Plagiocephaly, Dolichocephaly, Sagittal craniosynostosis, Lipomyelomeningocele, Craniosynostosis,... OMIM:616580
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Brachycephaly ORPHA:562528
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Frontal bossing, Delayed eruption of teeth OMIM:257850
Fontaine Progeroid Syndrome
Coronal craniosynostosis, Umbilical hernia, Tricuspid regurgitation, Abnormal heart morphology, O... OMIM:612289
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventricular septal defect, Brachycephaly, Atrial septal defect, Hydrocepha... ORPHA:96121
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed eruption of teeth, Oxycephaly, Tri... OMIM:614188
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Brachycephaly, Delayed eruption of teeth, Calvarial hyperostosis OMIM:101800
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Warburg Micro Syndrome 4
Brachycephaly OMIM:615663
Acrofrontofacionasal Dysostosis
Brachycephaly ORPHA:1784
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Abnormal heart morphology, Brachycephaly, Atrial septal defect, Crani... ORPHA:369837
Anauxetic Dysplasia 3
Plagiocephaly OMIM:618853
Angelman Syndrome
Brachycephaly, Flat occiput OMIM:105830
Lig4 Syndrome
Telangiectasia, Brachycephaly OMIM:606593
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Frontal bossing, Delayed eruption of teeth, Mitral valve prolapse OMIM:259600
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Brachycephaly, Frontal bossing, Patent ductus arteriosus ORPHA:861
Chromosome 2P16.1-P15 Deletion Syndrome
Brachycephaly OMIM:612513
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... OMIM:274000
Carey-Fineman-Ziter Syndrome 1
Pulmonary arterial hypertension, Plagiocephaly, Abnormal cardiac septum morphology OMIM:254940
Joubert Syndrome 1
Occipital myelomeningocele, Plagiocephaly OMIM:213300
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly OMIM:618885
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Brachycephaly, Atrial septal defect, Hydrocephalus, Aqueductal stenosis, Frontal b... OMIM:619512
Gapo Syndrome
Plagiocephaly, Frontal bossing, Eruption failure, Umbilical hernia OMIM:230740
Intellectual Developmental Disorder, Autosomal Dominant 1
Brachycephaly, Frontal bossing OMIM:156200
Dihydropyrimidinase Deficiency
Plagiocephaly OMIM:222748
Marshall Syndrome
Thickened calvaria, Brachycephaly, Frontal bossing ORPHA:560
Warburg Micro Syndrome 3
Brachycephaly OMIM:614222
Congenital Disorder Of Glycosylation, Type Iia
Brachycephaly, Ventricular septal defect OMIM:212066
Humeroradial Synostosis
Brachycephaly OMIM:236400
Adenylosuccinase Deficiency
Brachycephaly OMIM:103050
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Ventricular septal defect, Brachycephaly, Polyhydramnios, Patent ductus arteriosus OMIM:618268
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Plagiocephaly, Oligohydramnios, Mitral valve prolapse, Hydrocephalus, Craniosynostosis, Frontal b... ORPHA:536467
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Frontal bossing OMIM:617193
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:613457
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Adnp Syndrome
Plagiocephaly, Umbilical hernia, Trigonocephaly, Advanced eruption of teeth, Brachycephaly ORPHA:404448
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Brachycephaly, Atrial septal defect, Patent ductus arteriosus OMIM:300968
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly OMIM:618644
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly OMIM:618106
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly, Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Pul... OMIM:618223
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Plagiocephaly, Ebstein anomaly of the tricuspid valve, Tricuspid regurgitation, Abnormal left ven... ORPHA:466791
Carpenter Syndrome 2
Umbilical hernia, Oxycephaly, Trigonocephaly, Tricuspid regurgitation, Situs inversus totalis, Br... OMIM:614976
Gorlin Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus, Cardiac fibroma ORPHA:377
White-Sutton Syndrome
Abnormal heart morphology, Brachycephaly ORPHA:468678
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing ORPHA:85199
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Polyhydramnios, Plagiocephaly ORPHA:496641
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Brachycephaly ORPHA:1394
Craniofrontonasal Syndrome
Coronal craniosynostosis, Brachycephaly, Frontal bossing, Umbilical hernia OMIM:304110
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ascites, Brachycephaly, Plagiocephaly, Delayed eruption of teeth OMIM:301072
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dolichocephaly, Plagiocephaly, Frontal bossing, Decreased heart rate variability OMIM:619005
Cree Impaired Intellectual Development Syndrome
Brachycephaly OMIM:606851
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Oxycephaly, Abnormal h... OMIM:218600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Brachycephaly, Atrial septal defect, Hydrops ... OMIM:263520
Doors Syndrome
Frontal bossing, Prominent occiput, Sirenomelia, Anterior plagiocephaly, Brachycephaly, Sagittal ... ORPHA:79500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Turricephaly, Hypertension, Brachycephaly, Hydrocephalus, Oligozoospermia, Stillbirth, Craniosyno... ORPHA:95699
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing ORPHA:2612
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly OMIM:620224
Saethre-Chotzen Syndrome
Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:794
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Mitral val... OMIM:601776
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly OMIM:614800
Turnpenny-Fry Syndrome
Aortic regurgitation, Plagiocephaly, Mitral valve prolapse, Tricuspid valve prolapse, Brachycepha... OMIM:618371
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Atrial septal defect, Polyhydramnios, Craniosynostosis, Patent ductus arteriosus OMIM:213980
Kaufman Oculocerebrofacial Syndrome
Brachycephaly, Atrial septal defect, Ventricular septal defect OMIM:244450
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Posterior plagiocephaly, Plagiocephaly, Oligohydramnios, Patent foramen ovale, Polyhyd... OMIM:619841
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Azoospermia, Spontaneous, recurrent epistaxis... ORPHA:2072
Osteogenesis Imperfecta, Type Xi
Brachycephaly OMIM:610968
Hallermann-Streiff Syndrome
Brachycephaly, Congestive heart failure, Natal tooth, Frontal bossing ORPHA:2108
Osteopetrosis With Renal Tubular Acidosis
Plagiocephaly, Persistence of primary teeth, Oligohydramnios, Thickened calvaria, Brachycephaly, ... ORPHA:2785
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly, Ebstein anomaly of the tricuspid valve OMIM:608980
Dysostosis, Stanescu Type
Brachycephaly ORPHA:1798
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... OMIM:101400
Osteogenesis Imperfecta
Aortic regurgitation, Delayed eruption of teeth, Umbilical hernia, Prominent occiput, Mitral valv... ORPHA:666
Cleidocranial Dysplasia 2
Plagiocephaly, Delayed eruption of primary teeth OMIM:620099
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly ORPHA:2916
Warburg Micro Syndrome 2
Brachycephaly OMIM:614225
Ayme-Gripp Syndrome
Craniofacial asymmetry, Brachycephaly, Pericarditis OMIM:601088
Ring Chromosome 7 Syndrome
Plagiocephaly, Situs inversus totalis, Brachycephaly, Heart murmur, Holoprosencephaly ORPHA:1449
Atelosteogenesis Type Ii
Polyhydramnios, Plagiocephaly ORPHA:56304
Cornelia De Lange Syndrome 1
Brachycephaly, Delayed eruption of teeth, Ventricular septal defect OMIM:122470
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly, Delayed eruption of permanent teeth ORPHA:521445
Metaphyseal Chondrodysplasia, Jansen Type
Brachycephaly OMIM:156400
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Brachycephaly ORPHA:456312
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Plagiocephaly, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, Ventric... ORPHA:444077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Polyhydramnios, Plagiocephaly OMIM:618548
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Prominent occiput, Turricephaly, Truncu... OMIM:612474
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Arboleda-Tham Syndrome
Plagiocephaly, Secundum atrial septal defect, Upper eyelid edema, Ventricular septal defect, Atri... OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thickened calvaria, Brachycephaly OMIM:309583
Peters Plus Syndrome
Hypoplastic left heart, Umbilical hernia, Brachycephaly, Hydrocephalus, Abnormal cardiac septum m... ORPHA:709
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Plagiocephaly, Congestive heart failure, Palpebral edema, Heart murmur, Ven... OMIM:619475
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly OMIM:300749
Liver Disease, Severe Congenital
Plagiocephaly, Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Patent foramen ov... OMIM:619991
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Plagiocephaly, Spinal dysraphism, Hypertrophic cardiomyopathy, Large placenta, Ventricular septal... ORPHA:96334
Duane Retraction Syndrome
Spina bifida occulta, Plagiocephaly ORPHA:233
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Brachycephaly, Left ventricu... OMIM:619127
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posterior plagiocephaly, Umbilical hernia, Scaphocephaly, Ventricular septal defect, Brachycephal... OMIM:620330
Branchioskeletogenital Syndrome
Umbilical hernia, Blepharochalasis, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:1299
Chime Syndrome
Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Pulmonary valve atresia, Transposi... ORPHA:3474
Fibrochondrogenesis
Plagiocephaly ORPHA:2021
Coffin-Siris Syndrome 1
Plagiocephaly, Delayed eruption of teeth, Umbilical hernia, Tetralogy of Fallot, Ventricular sept... OMIM:135900
Frontofacionasal Dysplasia
Cranium bifidum occultum, Brachycephaly, Hypoplasia of the frontal bone OMIM:229400
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Frontal bossing, Atrial septal defect, Truncus arteriosus ORPHA:2538
Degcags Syndrome
Plagiocephaly, Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, Pulmo... OMIM:619488
Cartilage-Hair Hypoplasia
Brachycephaly OMIM:250250
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Patent foramen ovale, Brachycephaly, Frontal bossing, P... ORPHA:96149
Intellectual Developmental Disorder, Autosomal Dominant 29
Brachycephaly, Frontal bossing OMIM:616078
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Brachycephaly, Frontal bossing ORPHA:1236
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Fetal ascites, Delayed eruption of teeth, Mitral atresia, Muscular ventri... OMIM:619503
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Brachycephaly, Frontal bossing OMIM:616728
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly ORPHA:2673
Viss Syndrome
Coronary sinus enlargement, Right ventricular dilatation, Umbilical hernia, Right ventricular hyp... OMIM:619472
1P36 Deletion Syndrome
Dilated cardiomyopathy, Abnormal heart valve morphology, Tetralogy of Fallot, Telangiectasia, Bra... ORPHA:1606
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Plagiocephaly, Raynaud phenomenon, Cardiomegaly ORPHA:51
Acromelic Frontonasal Dysostosis
Encephalocele, Brachycephaly, Parietal foramina OMIM:603671
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Congenital malformation of the left heart, Thickened calvaria, Dysplastic pulmonary ... ORPHA:3455
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Tetralogy of Fallot, Patent foram... OMIM:607872
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachycephaly OMIM:601353
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Brachycephaly ORPHA:3063
Common Variable Immunodeficiency
Vasculitis, Brachycephaly ORPHA:1572
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Plagiocephaly, Secundum atrial septal defect, Bicuspid aortic valve, Pulmonary arterial hypertens... OMIM:613355
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly OMIM:601701
Monosomy 9P
Trigonocephaly, Brachycephaly, Calvarial skull defect ORPHA:261112
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Delayed eruption of teeth, Secundum atrial septal defect, Brachycephaly, Parietal bo... OMIM:264090
X-Linked Intellectual Disability, Armfield Type
Brachycephaly, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:85276
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Plagiocephaly OMIM:620083
Roberts Syndrome
Polyhydramnios, Craniosynostosis, Brachycephaly ORPHA:3103
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly ORPHA:45358
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Brachycephaly, Atrial sep... OMIM:309500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Hydrocephalus ORPHA:457284
Autosomal Recessive Faciodigitogenital Syndrome
Brachycephaly, Frontal bossing ORPHA:1974
Congenital Disorder Of Deglycosylation 1
Brachycephaly OMIM:615273
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Brachycephaly OMIM:619950
Kbg Syndrome
Brachycephaly OMIM:148050
Roberts-Sc Phocomelia Syndrome
Stillbirth, Ventricular septal defect, Brachycephaly, Atrial septal defect, Frontal encephalocele... OMIM:268300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Trigonocephaly, Brachycephaly, Craniosynostosis OMIM:309590
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly ORPHA:1521
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Brachycephaly OMIM:616263
Acrofrontofacionasal Dysostosis 1
Brachycephaly OMIM:201180
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Plagiocephaly, Sagittal craniosynostosis, Patent ductus arteriosus, Secundum atrial septal defect OMIM:620455
Elsahy-Waters Syndrome
Impacted tooth, Brachycephaly, Delayed eruption of teeth, Multiple impacted teeth OMIM:211380
Cornelia De Lange Syndrome
Delayed eruption of teeth, Increased nuchal translucency, Ventricular septal defect, Brachycephal... ORPHA:199
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Polyhydramnios, Brachycephaly, Frontal bossing OMIM:617157
Aicardi Syndrome
Plagiocephaly ORPHA:50
Congenital Myopathy 13
Brachycephaly OMIM:255995
Trichorhinophalangeal Syndrome, Type Ii
Plagiocephaly, Skull asymmetry, Right ventricular hypertrophy, Bicuspid aortic valve, Partial ano... OMIM:150230
Faundes-Banka Syndrome
Fetal ascites, Plagiocephaly, Frontal bossing OMIM:619376
14Q22Q23 Microdeletion Syndrome
Brachycephaly ORPHA:264200
6Q Terminal Deletion Syndrome
Dolichocephaly, Plagiocephaly ORPHA:75857
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly OMIM:227330
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Frontal bossing, Oligohydramnios, Brachycephaly, Craniosynostosis, Hypertension, Cloverleaf skull OMIM:201750
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Brachycephaly, Patent ductus arteriosus, Cardiomyopathy, Atrial septal defect ORPHA:480880
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Biparietal narrowing, Encephalocele ORPHA:475
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly, Hydrocephalus ORPHA:3042
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly OMIM:610442
Aspartylglucosaminuria
Thickened calvaria, Brachycephaly, Mitral regurgitation OMIM:208400
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Brachycephaly, Plagiocephaly OMIM:607932
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Atrial septal defect, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anen... OMIM:616546
Primrose Syndrome
Brachycephaly OMIM:259050
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Frontal bossing, Occipital encephalocele ORPHA:397715
Joubert Syndrome 23
OMIM:616490

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 2700049A03Rik

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to 2700049A03Rik.

No publications found that use IMPC mice or data for 2700049A03Rik.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
2700049A03Riktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
2700049A03Riktm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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