Gene Summary

Name:
aryl hydrocarbon receptor nuclear translocator
Synonyms:
Hif1b,  ESTM42,  D3Ertd557e,  bHLHe2

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Arntem1(IMPC)H HET Early adult 3.98×10-08

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Viewing: all phenotypes

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 Arnt 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 Arnt by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia, Diffuse cerebral atrophy, Microcephaly ORPHA:2898
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Adenylosuccinate Lyase Deficiency
Flat occiput, Hypointensity of cerebral white matter on MRI, Brachycephaly, Prominent metopic rid... ORPHA:46
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Brachycephaly OMIM:275595
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Hydrocephalus, Turricephaly, Midface retrusion ORPHA:1532
Craniosynostosis 6
Plagiocephaly, Brachycephaly, Craniosynostosis, Abnormal corpus callosum morphology, Turricephaly... OMIM:616602
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Thrombocythemia 3
Thrombocytosis OMIM:614521
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, Di... OMIM:618736
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Growth delay, Short stature, Brachycephaly ORPHA:2528
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocepha... ORPHA:272
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Female infertility, Primary amenorrhea, Premature ovarian ins... OMIM:612310
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Abnormal shape of the occiput, Short stature, Brachycephaly, Frontal bossing,... OMIM:218350
Aminopterin Syndrome Sine Aminopterin
Intrauterine growth retardation, Megalencephaly, Short stature, Brachycephaly, Frontal bossing, U... OMIM:600325
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Brachycephaly, Wormian b... OMIM:309400
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Non-Distal Trisomy 10Q
Frontal bossing, Microcephaly, Short stature, Brachycephaly ORPHA:1695
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly OMIM:612247
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Large fontanelles, Brachycephaly, Craniosynostosis, Abnormality of the septum pellucidum, Turrice... ORPHA:171839
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly ORPHA:320385
Mental Retardation, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Short stature, Brachycephaly ORPHA:1514
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Microcephaly, Thin calvarium, Short stature, Brachycephaly OMIM:122900
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly OMIM:615031
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Severe postnatal growth retardation, Short stature, Brachycephaly, Se... OMIM:615663
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Unilambdoid synostosis, Hydrocephalus, Midface retrusion, Hypoplasi... OMIM:618577
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... OMIM:604757
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Potocki-Shaffer Syndrome
Hypertension, Delayed puberty, Brachycephaly, Parietal foramina ORPHA:52022
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... OMIM:614188
Potocki-Shaffer Syndrome
Turricephaly, Wormian bones, Brachycephaly, Parietal foramina OMIM:601224
Cebalid Syndrome
Plagiocephaly, Brachycephaly, Platystencephaly, Turricephaly, Polymicrogyria, Midface retrusion, ... OMIM:618774
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Brachycephaly OMIM:618859
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Alobar holoprosencephaly, Dolichocephaly, Agenesis of corpus callosum OMIM:615433
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Short stature, Brachycephaly, Postn... OMIM:300590
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Brachycephaly, Spina bifida, Midface retrusion, M... ORPHA:1327
Myopathy, Congenital, Bailey-Bloch
Microcephaly, Midface retrusion, Short stature, Brachycephaly OMIM:255995
Pontocerebellar Hypoplasia, Type 3
Short stature, Brachycephaly, Progressive microcephaly, Cerebral atrophy, Hypoplasia of the corpu... OMIM:608027
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Brachycephaly OMIM:264470
Mental Retardation, Autosomal Dominant 26
Microcephaly, Short stature, Brachycephaly OMIM:615834
Warburg Micro Syndrome 3
Brachycephaly, Postnatal growth retardation, Polymicrogyria, Secondary microcephaly, Hypoplasia o... OMIM:614222
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
X-Linked Intellectual Disability, Sutherland-Haan Type
Microcephaly, Short stature, Brachycephaly ORPHA:93950
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Multifocal cerebral white matter abnormalities, Brachycephaly, Microcephaly, Hypoplasia of the co... ORPHA:352530
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Wormian bones, Short stature, Midface retrusion OMIM:613849
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, Abnormal globus pallidus morphology, Brachycephaly, Hypoplasia of the corpus callo... OMIM:618603
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Short stature, Brachycephaly, Craniosynostosis, Turricephaly ORPHA:2145
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Temporal cortical atrophy, Short stature, Brachycephaly, Prominent metopic ridge, ... OMIM:618862
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Large fontanelles, Brachycephaly, Severe short stature, Delayed cranial suture clos... ORPHA:2511
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Thick corpus callosum, Prominent occiput, Dolichocephaly, Hypoplasi... OMIM:618672
Grant Syndrome
Short stature, Large fontanelles, Brachycephaly, Wormian bones, Frontal bossing ORPHA:2097
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Brachycephaly, Midface retrusion, Cerebral cortical atrophy, Microcephaly ORPHA:1387
Pierpont Syndrome
Microcephaly, Midface retrusion, Short stature, Brachycephaly OMIM:602342
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Severe short stature, Frontal... ORPHA:2780
Gomez-Lopez-Hernandez Syndrome
Short stature, Brachycephaly, Craniosynostosis, Skull asymmetry, Wormian bones, Wide anterior fon... OMIM:601853
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Short stature, Brachycephaly, Trigonocephaly, Postnatal growth retardation, Promine... OMIM:613792
9P13 Microdeletion Syndrome
Metopic synostosis, Umbilical hernia, Short stature, Brachycephaly ORPHA:324313
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Brachycephaly, Pulmonic stenosis, Hydrocephalus, Prominent occip... OMIM:220210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Cerebral atrophy,... OMIM:616801
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Severe short stature, Frontal bossing, Midface retrusion OMIM:264180
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Short stature, Brachycephaly ORPHA:314575
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Brachycephaly, Focal T2 hyperintense basal ganglia lesion, Abnormal ... ORPHA:70472
Crouzon Disease
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly, Midface retrusion, Multiple suture c... ORPHA:207
Recombinant Chromosome 8 Syndrome
Growth delay, Brachycephaly, Pulmonic stenosis, Postnatal growth retardation, Cerebral atrophy, M... OMIM:179613
Cutis Laxa, Autosomal Recessive, Type Iiia
Intrauterine growth retardation, Large fontanelles, Brachycephaly, Wormian bones, Severe short st... OMIM:219150
Pierpont Syndrome
Abnormal cortical gyration, Primary microcephaly, Brachycephaly ORPHA:487825
Fetal Trimethadione Syndrome
Midface retrusion, Intrauterine growth retardation, Microcephaly, Brachycephaly ORPHA:1913
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Brachycephaly, Frontal bossing, Cerebral atrophy, Midface retrusion OMIM:615539
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly, Brachycephaly OMIM:610680
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Intrauterine growth retardation, Short stature, Brachycephaly, Frontal bossing, Biparietal narrow... ORPHA:1292
Mental Retardation, Autosomal Dominant 29
Brachycephaly OMIM:616078
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Short stature, Brachycephaly, Abnormal cerebral white matter morphology, Midface r... ORPHA:261652
Cooper-Jabs Syndrome
Frontal bossing, Umbilical hernia, Short stature, Brachycephaly ORPHA:1488
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly OMIM:614416
Varicose Veins
Varicose veins OMIM:192200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Microcephaly, Brachycephaly OMIM:615419
Richieri-Costa/Guion-Almeida Syndrome
Microcephaly, Spina bifida occulta, Short stature, Brachycephaly OMIM:268850
Chopra-Amiel-Gordon Syndrome
Short stature, Brachycephaly, Postnatal growth retardation, Midface retrusion, Microcephaly OMIM:619504
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Short stature, Brachycephaly, Holoprosencephaly, Craniosynostosis, Microcephaly ORPHA:2163
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Hydrocephalus, Turricephaly, Brachycephaly ORPHA:93262
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Brachycephaly, Trigonocephaly, Scaphocephaly, Hydrocephalus, Sagittal craniosynost... ORPHA:459061
Craniofrontonasal Dysplasia
Plagiocephaly, Brachycephaly, Craniosynostosis, Frontal bossing, Hypoplasia of the corpus callosu... ORPHA:1520
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Lissencephaly, Intrauterine growth retardation, Microcephaly, Brachycephaly OMIM:618142
Even-Plus Syndrome
Dysplastic corpus callosum, Brachycephaly, Severe short stature, Midface retrusion, Agenesis of c... OMIM:616854
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Muenke Syndrome
Plagiocephaly, Midface retrusion, Coronal craniosynostosis, Brachycephaly OMIM:602849
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... OMIM:612474
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Monosomy 18P
Hypertension, Short stature, Brachycephaly, Holoprosencephaly, Microcephaly ORPHA:1598
Desanto-Shinawi Syndrome
Midface retrusion, Hypoplasia of the corpus callosum, Brachycephaly OMIM:616708
Cornelia De Lange Syndrome 5
Microcephaly, Postnatal growth retardation, Short stature, Brachycephaly OMIM:300882
German Syndrome
Midface retrusion, Dolichocephaly, Short stature, Brachycephaly ORPHA:2077
Chromosome 2Q37 Deletion Syndrome
Midface retrusion, Arrhythmia, Short stature, Brachycephaly OMIM:600430
Laurence-Moon Syndrome
Short stature, Brachycephaly ORPHA:2377
2Q32Q33 Microdeletion Syndrome
Microcephaly, Growth delay, Short stature, Brachycephaly ORPHA:251019
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Hepatospleno... OMIM:607330
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Short stature, Brachycephaly OMIM:109120
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Microcephaly, Short stature, Brachycephaly OMIM:309541
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Muenke Syndrome
Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Short stature, Brachycephaly, Midface retrusion, Umbilical hernia ORPHA:369891
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Abnormal cortical gyration, Large fontanelles, Brachycephaly, Pachygyria, Macrogyri... ORPHA:2211
Gorlin Syndrome
Frontal bossing, Cerebral calcification, Hydrocephalus, Brachycephaly ORPHA:377
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Postnatal growth retardation, Short stature, Brachycephaly OMIM:614800
Al Kaissi Syndrome
Intrauterine growth retardation, Short stature, Brachycephaly, Postnatal growth retardation, Hypo... OMIM:617694
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume OMIM:222470
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Craniosynostosis, Frontal bossing, Turricephaly, Agenesis of corpus callosum OMIM:613174
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
X-Linked Intellectual Disability, Wilson Type
Dilation of lateral ventricles, Growth delay, Microcephaly, Brachycephaly ORPHA:85290
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Brachycephaly, Frontal bossing, Coronal craniosynostosis, Agenes... ORPHA:228390
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Large fontanelles, Brachycephaly, Anterior pituita... ORPHA:1827
Williams-Beuren Region Duplication Syndrome
Short stature, Brachycephaly, Hydrocephalus, Decreased response to growth hormone stimulation tes... OMIM:609757
Carpenter Syndrome 1
Short stature, Brachycephaly, Pulmonic stenosis, Aplasia/Hypoplasia of the corpus callosum, Cereb... OMIM:201000
Otofacioosseous-Gonadal Syndrome
Frontal bossing, Wormian bones, Short stature, Brachycephaly OMIM:601976
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Disproportionate short-limb short ... OMIM:618644
Xq28 (MECP2) duplication
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly OMIM:300958
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Cerebral cortical hemiatrophy, Growth delay, Brachycephaly, Aortic regurgitation, C... ORPHA:96147
8Q12 Microduplication Syndrome
Brachycephaly ORPHA:228399
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Umbilical hernia, Short stature, Brachycephaly ORPHA:2095
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Cdags Syndrome
Brachycephaly, Parietal foramina, Frontal bossing, Delayed cranial suture closure, Coronal cranio... OMIM:603116
Bardet-Biedl Syndrome 8
Brachycephaly OMIM:615985
2Q23.1 Microdeletion Syndrome
Microcephaly, Growth delay, Short stature, Brachycephaly ORPHA:228402
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Agenesis of corpus callosum, Brachycephaly, Frontal bossing, Hydrocephalus, Midfa... OMIM:612582
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Mitral regurgitation, Brachycephaly, Aortic regurgitation, Crani... ORPHA:254346
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Intrauterine growth retardation, Short stature, Brachycephaly, Aplasia/Hypoplasia o... ORPHA:505237
Acrofrontofacionasal Dysostosis 2
Microcephaly, Wide anterior fontanel, Short stature, Brachycephaly OMIM:239710
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Intrauterine growth retardation, Short stature, Brachycephaly, Hypoplasia of the co... OMIM:617452
Acrofrontofacionasal Dysostosis
Midface retrusion, Cerebral cortical atrophy, Short stature, Brachycephaly ORPHA:1784
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopituitarism, Brachycephaly OMIM:603671
Larsen-Like Syndrome
Frontal bossing, Wide anterior fontanel, Short stature, Brachycephaly OMIM:608545
Pde4D Haploinsufficiency Syndrome
Thickened calvaria, Intrauterine growth retardation, Brachycephaly, Frontal bossing, Postnatal gr... ORPHA:439822
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:616789
Alagille Syndrome
Hypertension, Intrauterine growth retardation, Brachycephaly, Telangiectasia of the skin, Frontal... ORPHA:52
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Brachycephaly, F... OMIM:617296
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachycephaly, Anterior plagiocephaly, Abnormality of cranial sutures, Frontal bossing, Wide ante... ORPHA:163649
Smith-Magenis Syndrome
Midface retrusion, Short stature, Brachycephaly OMIM:182290
Hallermann-Streiff Syndrome
Telangiectasia, Hypertension, Brachycephaly, Pulmonary arterial hypertension, Proportionate short... OMIM:234100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Brachycephaly OMIM:218000
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Microcephaly, Brachycephaly OMIM:608776
White-Sutton Syndrome
Short stature, Brachycephaly, Cerebral atrophy, Midface retrusion, Hypoplasia of the corpus callo... OMIM:616364
Distal Monosomy 10Q
Short stature, Brachycephaly, Craniosynostosis, Frontal bossing, Cavum septum pellucidum, Postnat... ORPHA:96148
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Large fontanelles, Brachycephaly, Short stature, Neonatal deat... OMIM:259775
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Wormian bones, Micro... OMIM:616897
Inverted Duplicated Chromosome 15 Syndrome
Growth delay, Microcephaly, Brachycephaly ORPHA:3306
Lujan-Fryns Syndrome
Aplasia/Hypoplasia of the corpus callosum, Brachycephaly ORPHA:776
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Plagiocephaly, Midface retrusion, Frontal bossing, Brachycephaly OMIM:618430
Congenital Disorder Of Glycosylation, Type Iq
Polymicrogyria, Brachycephaly OMIM:612379
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly OMIM:615761
16P13.2 Microdeletion Syndrome
Plagiocephaly, Dilated third ventricle, Short stature, Brachycephaly, Cerebral white matter atrop... ORPHA:500055
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Aica-Ribosuria Due To Atic Deficiency
Frontal bossing, Brachycephaly OMIM:608688
Frontofacionasal Dysplasia
Midface retrusion, Hypoplasia of the corpus callosum, Short stature, Brachycephaly ORPHA:1791
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Growth delay, Short stature, Brachy... ORPHA:500
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Coronal craniosynostosis, ... OMIM:207410
Dysostosis, Stanescu Type
Short stature, Brachycephaly, Wormian bones, Cerebral calcification, Midface retrusion, Persisten... ORPHA:1798
Apert Syndrome
Hypertension, Brachyturricephaly, Cloverleaf skull, Large fontanelles, Acrobrachycephaly, Absent ... ORPHA:87
Humeroradial Synostosis With Craniofacial Anomalies
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:236410
Warburg Micro Syndrome 2
Brachycephaly, Postnatal growth retardation, Polymicrogyria, Secondary microcephaly, Hypoplasia o... OMIM:614225
Trisomy 20P
Plagiocephaly, Brachycephaly, Frontal bossing, Spina bifida, Dolichocephaly, Umbilical hernia ORPHA:261318
Cerebellar Ataxia-Hypogonadism Syndrome
Short stature, Brachycephaly ORPHA:1173
Lig4 Syndrome
Growth delay, Brachycephaly, Telangiectasia of the skin, Biparietal narrowing, Microcephaly ORPHA:99812
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Brachycephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the corpus callosum, Co... OMIM:612513
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Intrauterine growth retardation, Short stature, Brachycephaly,... OMIM:101800
Mesomelic Dysplasia, Nievergelt Type
Mesomelic short stature, Dolichocephaly, Brachycephaly ORPHA:2633
Adenylosuccinase Deficiency
Growth delay, Brachycephaly, Cerebral atrophy, Prominent metopic ridge, Microcephaly OMIM:103050
Nabais Sa-De Vries Syndrome, Type 1
Primary microcephaly, Simplified gyral pattern, Brachycephaly OMIM:618828
Smith-Magenis Syndrome
Short stature, Brachycephaly, Frontal bossing, Aplasia/Hypoplasia of the corpus callosum, Midface... ORPHA:819
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Short stature, Brachycephaly, Trigonocephaly, Pulmonic stenosis, Prominent metopic r... OMIM:619148
Martsolf Syndrome 1
Short stature, Brachycephaly, Cardiomyopathy, Cardiac arrest, Congestive heart failure, Microcephaly OMIM:212720
Pfeiffer Syndrome Type 1
Midface retrusion, Bicoronal synostosis, Brachycephaly, Aqueductal stenosis ORPHA:93258
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Microcephaly, Brachycephaly OMIM:263210
Distal Monosomy 3P
Intrauterine growth retardation, Short stature, Brachycephaly, Umbilical hernia, Microcephaly ORPHA:1620
20Q11.2 Microduplication Syndrome
Severe intrauterine growth retardation, Growth delay, Brachycephaly, Trigonocephaly, Prominent me... ORPHA:363659
Craniofrontonasal Syndrome
Agenesis of corpus callosum, Short stature, Brachycephaly, Frontal bossing, Coronal craniosynosto... OMIM:304110
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Wieacker-Wolff Syndrome, Female-Restricted
Microcephaly, Short stature, Brachycephaly OMIM:301041
Uruguay Faciocardiomusculoskeletal Syndrome
Brachyturricephaly, Cardiomyopathy, Mitral regurgitation OMIM:300280
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Hypoplasia of the corpus callosum, Cerebral atrophy, Brachycephaly OMIM:618797
Cleidocranial Dysplasia
Large fontanelles, Brachycephaly, Short stature, Wormian bones, Frontal bossing, Midface retrusio... ORPHA:1452
Ritscher-Schinzel Syndrome 4
Plagiocephaly, Premature anterior fontanel closure, Dysgenesis of the hippocampus, Short stature,... OMIM:619435
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, Growth delay, Microcephaly, Brachycephaly ORPHA:2707
Crouzon Syndrome
Brachycephaly, Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis, Lambdoidal c... OMIM:123500
De Barsy Syndrome
Intrauterine growth retardation, Short stature, Delayed closure of the anterior fontanelle, Brach... ORPHA:2962
Craniosynostosis-Fibular Aplasia Syndrome
Large fontanelles, Brachycephaly, Wormian bones, Midface retrusion, Microcephaly ORPHA:1533
Hunter-Macdonald Syndrome
Hypertension, Midface retrusion, Mitral regurgitation, Brachycephaly, Large fontanelles, Short st... OMIM:611962
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Cranial asymmetry, Delayed closure of the anterior fontanelle, Short stature, Scaph... OMIM:614886
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Lobar holoprosencephaly, Short stature, Brachycephaly, Skull asymmetry, Microcephaly OMIM:614701
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Antley-Bixler Syndrome
Brachycephaly, Craniosynostosis, Frontal bossing, Turricephaly, Delayed cranial suture closure ORPHA:83
Aymé-Gripp Syndrome
Plagiocephaly, Pericarditis, Large fontanelles, Brachycephaly, Short stature, Craniosynostosis, P... ORPHA:1272
Apert Syndrome
Brachyturricephaly, Midface retrusion, Large fontanelles, Megalencephaly, Acrobrachycephaly, Abse... OMIM:101200
Stevenson-Carey Syndrome
Hypoplasia of the corpus callosum, Brachycephaly OMIM:611961
Mosaic Variegated Aneuploidy Syndrome 1
Intrauterine growth retardation, Short stature, Brachycephaly, Cerebral hypoplasia, Postnatal gro... OMIM:257300
Cree Mental Retardation Syndrome
Large fontanelles, Brachycephaly OMIM:606851
Down Syndrome
Abnormality of the fontanelles or cranial sutures, Umbilical hernia, Brachycephaly ORPHA:870
Acrodysostosis
Midface retrusion, Short stature, Brachycephaly ORPHA:950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Cerebral atrophy, Brachycephaly OMIM:615398
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Brachycephaly, Pulmonic stenosis ORPHA:435638
X-Linked Intellectual Disability Due To Gria3 Mutations
Hypoplasia of the corpus callosum, Short stature, Brachycephaly ORPHA:364028
Baller-Gerold Syndrome
Brachyturricephaly, Intrauterine growth retardation, Growth delay, Short stature, Large fontanell... ORPHA:1225
2P15P16.1 Microdeletion Syndrome
Intrauterine growth retardation, Growth delay, Mitral regurgitation, Brachycephaly, Aortic regurg... ORPHA:261349
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency OMIM:110100
Cerebrofaciothoracic Dysplasia
Short stature, Brachycephaly, Midface retrusion, Hypoplasia of the corpus callosum, Cerebral cort... ORPHA:1394
Cerebrooculonasal Syndrome
Brachycephaly, Craniosynostosis, Proboscis, Frontal bossing, Hydrocephalus, Hypoplasia of the cor... OMIM:605627
Angelman Syndrome
Flat occiput, Secondary microcephaly, Cerebral cortical atrophy, Brachycephaly OMIM:105830
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Plagiocephaly, Brachycephaly, Parietal foramina, Frontal bossing, Wid... ORPHA:85199
Beck-Fahrner Syndrome
Periventricular leukomalacia, Microcephaly, Brachycephaly OMIM:618798
Sweeney-Cox Syndrome
Prominent metopic ridge, Midface retrusion, Wide anterior fontanel, Brachycephaly OMIM:617746
49,Xxxxy Syndrome
Arrhinencephaly, Short stature, Brachycephaly, Holoprosencephaly, Pulmonary embolism, Hypoplasia ... ORPHA:96264
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Midface retrusion, Craniosynostosis, Brachycephaly ORPHA:1790
Trisomy 9P
Microcephaly, Brachycephaly ORPHA:236
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Short stature, Delayed closure of the anterior fontanelle, Brachycephaly, Pulmonic... OMIM:610759
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Telangiectasia, Abnormal parietal bone morphology, Growth delay, Brachycephaly ORPHA:247262
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Partial agenesis of the corpus callosum, Large fontanelles, Brachycephaly, Frontal... OMIM:619512
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Brachycephaly, Frontal bossing, Scaphocephaly, Dolichocephaly OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Midface retrusion, Microcephaly, Brachycephaly OMIM:300260
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst, Short stature, Brachycephaly, Abnormal cerebral white matter morphology, Microcephaly OMIM:618885
Marshall Syndrome
Thickened calvaria, Short stature, Brachycephaly, Frontal bossing, Cerebral calcification ORPHA:560
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened calvaria, Mitral regurgitation, Brachycephaly, Aortic regu... ORPHA:309282
9Q33.3Q34.11 Microdeletion Syndrome
Plagiocephaly, Telangiectasia, Brachycephaly, Epistaxis, Prominent metopic ridge, Abnormal perive... ORPHA:495818
Kohlschutter-Tonz Syndrome-Like
Intrauterine growth retardation, Midface retrusion, Brachycephaly, Dilation of lateral ventricles... OMIM:619229
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Brachycephaly ORPHA:404440
Adnp Syndrome
Plagiocephaly, Short stature, Brachycephaly, Trigonocephaly, Focal white matter lesions, Cerebral... ORPHA:404448
Weill-Marchesani Syndrome 2
Mitral regurgitation, Brachycephaly, Short stature, Proportionate short stature, Pulmonic stenosi... OMIM:608328
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Short stature, Large fontanelles, Brachycephaly OMIM:257850
Trichohepatoneurodevelopmental Syndrome
Plagiocephaly, Brachycephaly, Abnormal corpus callosum morphology, Cerebral atrophy, Midface retr... OMIM:618268
Cerebrooculonasal Syndrome
Brachycephaly ORPHA:66625
Osteogenesis Imperfecta, Type Xi
Short stature, Brachycephaly OMIM:610968
White-Sutton Syndrome
Short stature, Brachycephaly, Subcortical cerebral atrophy, Midface retrusion, Hypoplasia of the ... ORPHA:468678
Kleefstra Syndrome
Short stature, Brachycephaly, Cerebral cortical atrophy, Arrhythmia, Agenesis of corpus callosum,... ORPHA:261494
Humeroradial Synostosis
Brachycephaly OMIM:236400
Weill-Marchesani Syndrome 1
Mitral regurgitation, Brachycephaly, Short stature, Proportionate short stature, Pulmonic stenosi... OMIM:277600
Kleefstra Syndrome 1
Midface retrusion, Microcephaly, Brachycephaly OMIM:610253
Dyggve-Melchior-Clausen Syndrome, X-Linked
Thickened calvaria, Disproportionate short-trunk short stature, Brachycephaly OMIM:304950
Momo Syndrome
Frontal bossing, Short stature, Brachycephaly ORPHA:2563
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Craniosynostosis, Frontal bossing, Wide anterior fontanel, Hydrocephalus, Dol... OMIM:182212
19P13.13 Microdeletion Syndrome
Hypoplasia of the frontal lobes, Dolichocephaly, Corpus callosum atrophy, Brachycephaly ORPHA:357001
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Congenital Disorder Of Glycosylation, Type Iia
Microcephaly, Postnatal growth retardation, Short stature, Brachycephaly OMIM:212066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Hypertension, Sclerotic cranial sutures, Brachycephaly ORPHA:371428
Saethre-Chotzen Syndrome
Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis, Delayed cranial suture closure ORPHA:794
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Short stature, Brachycephaly, Neonatal death, Pulmonary arterial... OMIM:612289
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Short stature, Brachycephaly, Progressive microcephaly, Midface retrusion, Delayed puberty, Micro... OMIM:616263
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Delayed cranial suture closure, Umbilical hernia, Large fontanelles, Brachycephaly OMIM:601776
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly OMIM:156610
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:2248
7Q11.23 Microduplication Syndrome
Growth delay, Short stature, Brachycephaly, Craniosynostosis, Simplified gyral pattern, Hydroceph... ORPHA:96121
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Brachyturricephaly OMIM:607597
Multicentric Osteolysis, Nodulosis, And Arthropathy
Short stature, Delayed closure of the anterior fontanelle, Brachycephaly, Frontal bossing, Wide c... OMIM:259600
Duplication Of The Pituitary Gland
Brachyturricephaly, Short stature, Abnormal hypothalamus morphology, Abnormality of the pituitary... ORPHA:314621
Pfeiffer Syndrome
Coronal craniosynostosis, Brachyturricephaly, Hydrocephalus, Cloverleaf skull OMIM:101600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Short stature, Brachycephaly, Rhizomelia, Craniosynostosis, Frontal bossing, Hydrocephalus, Midfa... OMIM:245600
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cerebral white matter hypoplasia, Short stature, Brachycephaly, Frontal bossing, Hypoplasia of th... OMIM:616728
Momo Syndrome
Frontal bossing, Brachycephaly OMIM:157980
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Short stature, Brachycephaly OMIM:300968
Loeys-Dietz Syndrome 5
Growth delay, Short stature, Mitral regurgitation, Brachycephaly, Midface retrusion, Dolichocephaly OMIM:615582
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Short stature, Brachycephaly, Pulmonic ste... OMIM:618223
Down Syndrome
Short stature, Brachycephaly OMIM:190685
Cartilage-Hair Hypoplasia
Absent pubertal growth spurt, Neonatal short-limb short stature, Brachycephaly OMIM:250250
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Hypoplasia of the corpus callosum, Cerebral atrophy, Growth delay, Brachycephaly OMIM:601353
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Mild postnatal growth retardation, Secondary microcephaly, Delayed puberty, Brachycephaly ORPHA:456312
Cartilage-Hair Hypoplasia
Brachycephaly, Rhizomelia, Disproportionate short-limb short stature, Cardiomyopathy, Heart block... ORPHA:175
Hamamy Syndrome
Craniosynostosis, Mitral regurgitation, Brachycephaly OMIM:611174
Neurofaciodigitorenal Syndrome
Plagiocephaly, Intrauterine growth retardation, Short stature, Brachycephaly ORPHA:2673
Ayme-Gripp Syndrome
Pericarditis, Short stature, Brachycephaly, Craniofacial asymmetry, Delayed cranial suture closur... OMIM:601088
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension, Elevated circulating follicle stimulating hormone level, Brachycephaly, Craniosynos... ORPHA:95699
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Brachycephaly OMIM:156400
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Short stature, Brachycephaly, Craniosynostosis, Postnatal growth retardation, Decreased response ... OMIM:213980
Alg9-Cdg
Brachycephaly, Rhizomelia, Tricuspid regurgitation, Frontal bossing, Wide anterior fontanel, Prog... ORPHA:79328
Thrombocytopenia-Absent Radius Syndrome
Cavum septum pellucidum, Spina bifida, Short stature, Brachycephaly OMIM:274000
Hallermann-Streiff Syndrome
Brachycephaly, Proportionate short stature, Frontal bossing, Abnormality of the fontanelles or cr... ORPHA:2108
Osteopetrosis With Renal Tubular Acidosis
Plagiocephaly, Thickened calvaria, Short stature, Brachycephaly, Pulmonary arterial hypertension,... ORPHA:2785
Camptodactyly Syndrome, Guadalajara, Type I
Intrauterine growth retardation, Short stature, Brachycephaly, Wormian bones, Midface retrusion, ... OMIM:211910
Turnpenny-Fry Syndrome
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Aortic regurgitation, Frontal boss... OMIM:618371
Arthrogryposis And Ectodermal Dysplasia
Microcephaly, Short stature, Brachycephaly OMIM:601701
Frank-Ter Haar Syndrome
Flat occiput, Growth delay, Brachycephaly, Wormian bones, Wide anterior fontanel, Delayed cranial... OMIM:249420
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Large posterior fontanelle, Decreased calvarial ossification, Brachycephaly, Neonatal death, Fron... OMIM:617925
Treacher-Collins Syndrome
Branchial fistula, Midface retrusion, Frontal bossing, Brachycephaly ORPHA:861
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Plagiocephaly, Cerebral atrophy, Frontal bossing, Brachycephaly OMIM:280000
Kaufman Oculocerebrofacial Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Short stature, Brachycephaly OMIM:244450
Osteogenesis Imperfecta
Cerebral hemorrhage, Intrauterine growth retardation, Growth delay, Large fontanelles, Brachyceph... ORPHA:666
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Microcephaly, Brachycephaly ORPHA:521445
48,Xxxy Syndrome
Pulmonary embolism, Brachycephaly ORPHA:96263
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thickened calvaria, Short stature, Brachycephaly OMIM:309583
Branchioskeletogenital Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis, Umbilical hernia, Microcephaly ORPHA:1299
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Brachyturricephaly, Hypoplastic olfactory lobes, Widely patent fontanelles and sutu... OMIM:214100
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Microcephaly, Brachycephaly ORPHA:1236
Peters Plus Syndrome
Intrauterine growth retardation, Short stature, Brachycephaly, Rhizomelia, Disproportionate short... ORPHA:709
Fucosidosis
Brachycephaly ORPHA:349
Carpenter Syndrome 2
Brachycephaly, Trigonocephaly, Craniosynostosis, Oxycephaly, Frontal bossing, Midface retrusion, ... OMIM:614976
Saethre-Chotzen Syndrome
Plagiocephaly, Short stature, Brachycephaly, Skull asymmetry, Oxycephaly, Parietal foramina, Coro... OMIM:101400
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Ring Chromosome 7 Syndrome
Plagiocephaly, Severe intrauterine growth retardation, Short stature, Brachycephaly, Holoprosence... ORPHA:1449
Doors Syndrome
Arrhinencephaly, Sirenomelia, Brachycephaly, Anterior plagiocephaly, Frontal bossing, Polymicrogy... ORPHA:79500
Distal Monosomy 12Q
Growth delay, Short stature, Brachycephaly, Frontal bossing, Pituitary adenoma, Wide anterior fon... ORPHA:96149
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Craniosynostosis, Brachycephaly ORPHA:369837
Baller-Gerold Syndrome
Brachyturricephaly, Bicoronal synostosis, Short stature, Hydrocephalus, Polymicrogyria, Coronal c... OMIM:218600
Coffin-Siris Syndrome 1
Plagiocephaly, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Short st... OMIM:135900
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies
Brachycephaly OMIM:600159
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Oligomenorrhea, Streak ovary, Female infertility, Premature ovarian insuffi... ORPHA:572333
Cornelia De Lange Syndrome 1
Microcephaly, Intrauterine growth retardation, Short stature, Brachycephaly OMIM:122470
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Brachycephaly OMIM:142625
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Growth delay, Brachycephaly, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, H... ORPHA:2072
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Dilation of lateral ventricles, Pachygyria, Tricuspid regurgitation, Brachycephaly OMIM:263520
Pfeiffer Syndrome Type 3
Brachyturricephaly, Midface retrusion, Aqueductal stenosis ORPHA:93260
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, Megalencephaly, Short stature, Brachycephaly ORPHA:3063
Roberts Syndrome
Severe intrauterine growth retardation, Brachycephaly, Craniosynostosis, Postnatal growth retarda... ORPHA:3103
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Agenesis of corpus callosum, Short stature, Brachycephaly ORPHA:264200
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short stature, Brachycephaly, Trigonocephaly, Craniosynostosis, Cerebral atrophy, Hypoplasia of t... OMIM:309590
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral regurgitation, Brachycephaly, Short stature, Tricuspid regurgitation, Frontal bossing, Pos... OMIM:619127
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Umbilical hernia, Brachycephaly ORPHA:1519
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Noncompaction cardiomyopathy, Growth delay, Brachycephaly, Delayed closur... OMIM:607872
Monosomy 9P
Brachycephaly, Trigonocephaly, Calvarial skull defect, Agenesis of corpus callosum, Microcephaly ORPHA:261112
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Short stature, Brachycephaly ORPHA:1974
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
X-Linked Intellectual Disability, Armfield Type
Midface retrusion, Cerebral cortical atrophy, Short stature, Brachycephaly ORPHA:85276
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly, Small basal ganglia, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcep... OMIM:610442
1P36 Deletion Syndrome
Dilated cardiomyopathy, Telangiectasia, Midface retrusion, Short stature, Brachycephaly, Frontal ... ORPHA:1606
Acrofrontofacionasal Dysostosis 1
Short stature, Brachycephaly OMIM:201180
Common Variable Immunodeficiency
Vasculitis, Brachycephaly ORPHA:1572
Congenital Disorder Of Deglycosylation 1
Microcephaly, Brachycephaly OMIM:615273
Frontofacionasal Dysplasia
Midface retrusion, Hypoplasia of the frontal bone, Brachycephaly OMIM:229400
Faciodigitogenital Syndrome, Autosomal Recessive
Proportionate short stature, Brachycephaly OMIM:227330
Aspartylglucosaminuria
Thickened calvaria, Short stature, Mitral regurgitation, Brachycephaly, Cerebral atrophy, Microce... OMIM:208400
Chime Syndrome
Cerebral cortical atrophy, Brachycephaly ORPHA:3474
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly OMIM:608980
Renpenning Syndrome 1
Microcephaly, Cerebral atrophy, Short stature, Brachycephaly OMIM:309500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cloverleaf skull, Brachycephaly, Craniosynostosis, Frontal bossing, Midface retrusion, Microcephaly OMIM:201750
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Brachycephaly, Neonatal death, Pulmonary arterial hypertension, Right-to... OMIM:265380
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Brachyturricephaly, Hemiballismus ORPHA:522077
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Brachyturricephaly, Intrauterine growth retardation, Postnatal growth retardation, Diffuse cerebr... ORPHA:83617
Microphthalmia, Syndromic 6
Plagiocephaly, Brachycephaly, Abnormal cerebral white matter morphology, Aplasia/Hypoplasia of th... OMIM:607932
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Brachycephaly, Craniosynostosis, Stillbirth, Postnatal gr... OMIM:268300
Cornelia De Lange Syndrome
Intrauterine growth retardation, Severe postnatal growth retardation, Short stature, Brachycephal... ORPHA:199
Elsahy-Waters Syndrome
Midface retrusion, Brachycephaly OMIM:211380
Viss Syndrome
Epidural hemorrhage, Short stature, Brachycephaly, Pulmonary arterial hypertension, Frontal bossi... OMIM:619472
Turner Syndrome
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99228
Monosomy X
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Female infertility, Primary amenorrhea, Premature ovarian insufficiency ORPHA:99413
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal cortical gyration, Short stature, Brachycephaly, Cardiomyopathy, Hypoplasia of the corpu... ORPHA:480880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Brachycephaly, Decreased response to growth hormone stimulation test, Frontal bossing, Small pitu... OMIM:619503
Primrose Syndrome
Short stature, Brachycephaly, Cerebral calcification, Midface retrusion, Hypoplasia of the corpus... OMIM:259050

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 Arnt

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 Arnt.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The circadian gene Arntl2 on distal mouse chromosome 6 controls thymocyte apoptosis. Mammalian genome : official journal of the International Mammalian Genome Society (September 2016) Arntl2tm1a(KOMP)Wtsi 27671790

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MGI Allele Allele Type Produced
Arnttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arntem1(IMPC)H Indel Mice
Arnttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arnttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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