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Gene: Arnt MGI:88071

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Arntem1(IMPC)H HET Early adult 1.22×10-09
preweaning lethality, complete penetrance Arntem1(IMPC)H HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput, Bradycardia ORPHA:2898
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly, Occipital encephalocele OMIM:614416
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Brachycephaly, Growth delay ORPHA:2528
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocepha... ORPHA:272
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Craniodigital-Intellectual Disability Syndrome
Short stature, Spina bifida occulta, Brachycephaly ORPHA:1514
Non-Distal Duplication 10Q
Short stature, Brachycephaly, Frontal bossing ORPHA:1695
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing OMIM:600325
Intellectual Developmental Disorder, Autosomal Dominant 26
Short stature, Brachycephaly, Intrauterine growth retardation, Umbilical hernia OMIM:615834
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput OMIM:618736
Potocki-Shaffer Syndrome
Hypertension, Brachycephaly, Delayed puberty, Parietal foramina ORPHA:52022
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Craniosynostosis ORPHA:171839
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Brach... OMIM:300590
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Intrauterine growth retardation, Calvarial skull defect, Encephalocele,... ORPHA:228390
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Brachycephaly, Hydrocephalus, Short stature, Abnormal shape of the occiput, F... OMIM:218350
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Brachycephaly, Alobar holoprosencephaly, Plagiocephaly OMIM:615433
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Unilambdoid synostosis OMIM:618577
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly ORPHA:320385
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Turricephaly, Brachycephaly, Short stature, Craniosynostosis ORPHA:2145
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly OMIM:615031
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Brachycephaly OMIM:309541
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly OMIM:618774
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Trigonocephaly, Brachycephaly, Sho... OMIM:613792
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Brachycephaly, Intrauterine growth retardation, Spina bifida ORPHA:1327
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Short stature, Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Intrauterine growth retardation OMIM:620688
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly OMIM:615419
Cooper-Jabs Syndrome
Short stature, Brachycephaly, Frontal bossing, Umbilical hernia ORPHA:1488
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Brachycephaly ORPHA:93950
Pierpont Syndrome
Short stature, Brachycephaly OMIM:602342
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Short stature, Cloverleaf skull OMIM:602849
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... OMIM:604757
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput OMIM:618672
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Intrauterine growth retardation, Prominent occiput, Brachycephaly, Hydroce... OMIM:220210
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly ORPHA:93262
Pseudodiastrophic Dysplasia
Severe short stature, Brachycephaly, Rhizomelia, Frontal bossing OMIM:264180
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Frontal bossing OMIM:616801
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing ORPHA:207
Pontocerebellar Hypoplasia, Type 3
Short stature, Brachycephaly OMIM:608027
Pierpont Syndrome
Brachycephaly ORPHA:487825
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing OMIM:219150
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Brachycephaly, Short stature,... ORPHA:1292
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Clark-Baraitser Syndrome
Dolichocephaly, Brachycephaly OMIM:617752
Grant Syndrome
Short stature, Brachycephaly, Frontal bossing ORPHA:2097
Laurence-Moon Syndrome
Short stature, Brachycephaly ORPHA:2377
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... ORPHA:261529
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Brachycephaly, Plagiocephaly, Umbilical hernia ORPHA:369891
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Brachycephaly, Congestive heart failure ORPHA:70472
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Brachycephaly, Growth delay, Pulmonic stenosis OMIM:179613
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Brachycephaly, Flat occiput ORPHA:2511
Menkes Disease
Short stature, Brachycephaly, Intrauterine growth retardation, Intracranial hemorrhage OMIM:309400
Varicose Veins
Varicose veins OMIM:192200
Craniofrontonasal Dysplasia
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:1520
Cornelia De Lange Syndrome 5
Short stature, Postnatal growth retardation, Brachycephaly OMIM:300882
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Brachycephaly, Short stature, Dolichocephaly, Frontal bossing OMIM:619721
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, H... ORPHA:459061
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Richieri-Costa/Guion-Almeida Syndrome
Short stature, Spina bifida occulta, Brachycephaly OMIM:268850
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Short stature, Craniosynostosis, Holoprosencephaly ORPHA:2163
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Aortic valve stenosis, Facial hyperostosis, Thickened calvaria, Brachycepha... ORPHA:2780
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Short stature, Brachycephaly, Plagiocephaly OMIM:618862
Trichohepatoenteric Syndrome 1
Thrombocytosis, Splenomegaly, Increased mean platelet volume OMIM:222470
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:53271
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Brachycephaly ORPHA:1387
Bardet-Biedl Syndrome 8
Brachycephaly OMIM:615985
2Q32Q33 Microdeletion Syndrome
Short stature, Brachycephaly, Growth delay ORPHA:251019
Gomez-Lopez-Hernandez Syndrome
Skull asymmetry, Turricephaly, Brachycephaly, Short stature, Craniosynostosis OMIM:601853
Monosomy 18P
Short stature, Brachycephaly, Holoprosencephaly, Hypertension ORPHA:1598
8Q12 Microduplication Syndrome
Brachycephaly ORPHA:228399
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Fetal Trimethadione Syndrome
Brachycephaly, Intrauterine growth retardation ORPHA:1913
Chopra-Amiel-Gordon Syndrome
Short stature, Postnatal growth retardation, Brachycephaly OMIM:619504
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Frontonasal Dysplasia 2
Parietal foramina, Intrauterine growth retardation, Calvarial skull defect, Encephalocele, Anteri... OMIM:613451
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Frontal bossing OMIM:617364
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Frontal bossing, Mitral regurgitation OMIM:615539
Gorlin-Chaudhry-Moss Syndrome
Short stature, Coronal craniosynostosis, Brachycephaly, Umbilical hernia ORPHA:2095
German Syndrome
Short stature, Dolichocephaly, Brachycephaly ORPHA:2077
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Kleefstra Syndrome Due To A Point Mutation
Short stature, Brachycephaly, Plagiocephaly, Umbilical hernia ORPHA:261652
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Intrauterine growth retardation OMIM:618142
Frontofacionasal Dysplasia
Short stature, Brachycephaly, Encephalocele ORPHA:1791
Even-Plus Syndrome
Severe short stature, Brachycephaly OMIM:616854
Williams-Beuren Region Duplication Syndrome
Short stature, Brachycephaly, Hydrocephalus OMIM:609757
Desanto-Shinawi Syndrome
Brachycephaly OMIM:616708
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Frontal bossing, Brachyturricephaly OMIM:607597
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Telangiectasia, Brachycephaly, Hydrocephalus, Frontal bossing OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly OMIM:615761
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:616789
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Chromosome 2Q37 Deletion Syndrome
Short stature, Brachycephaly, Arrhythmia OMIM:600430
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Frontal bossing OMIM:615828
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Brachycephaly, Hydrocephalus OMIM:109120
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
2Q23.1 Microdeletion Syndrome
Short stature, Brachycephaly, Growth delay ORPHA:228402
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Alagille Syndrome
Frontal bossing, Intrauterine growth retardation, Brachycephaly, Telangiectasia of the skin, Dela... ORPHA:52
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Short stature, Brachycephaly, Intrauterine growth retardation, Flat occiput OMIM:617452
Pde4D Haploinsufficiency Syndrome
Hypotension, Postnatal growth retardation, Intrauterine growth retardation, Thickened calvaria, B... ORPHA:439822
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Sagittal ... OMIM:201000
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... OMIM:123500
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Brachycephaly, Arrhy... ORPHA:254346
Xq28 (MECP2) duplication
Brachycephaly DECIPHER:45
Cerebellar Ataxia-Hypogonadism Syndrome
Short stature, Brachycephaly ORPHA:1173
ERI1-related disease
Tricuspid regurgitation, Trigonocephaly, Intrauterine growth retardation, Brachycephaly, Pulmonar... OMIM:608739
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Short stature, Brachycephaly, Intrauterine growth retardation, Flat occiput ORPHA:505237
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly OMIM:613174
Al Kaissi Syndrome
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly OMIM:617694
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:618430
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Hallermann-Streiff Syndrome
Frontal bossing, Thin calvarium, Scaphocephaly, Proportionate short stature, Telangiectasia, Pari... OMIM:234100
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly, Growth delay ORPHA:3306
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Arrhythmia, Br... ORPHA:500
Achondrogenesis, Type Ii
Disproportionate short-limb short stature, Brachycephaly, Disproportionate short-trunk short stat... OMIM:200610
Chromosome 17P13.1 Deletion Syndrome
Plagiocephaly, Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Spina bifida OMIM:613776
Larsen-Like Syndrome
Short stature, Brachycephaly, Frontal bossing OMIM:608545
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Brachycephaly, Intrauterine growth retardation OMIM:616897
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Frontal bossing, Anterior plagiocephaly ORPHA:163649
Kleefstra Syndrome 2
Plagiocephaly, Growth delay OMIM:617768
Acromelic Frontonasal Dysplasia
Brachycephaly, Meningocele, Encephalocele ORPHA:1827
Band Heterotopia
Plagiocephaly, Hydrocephalus OMIM:600348
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Kury-Isidor Syndrome
Brachycephaly, Growth delay, Frontal bossing OMIM:619762
Smith-Magenis Syndrome
Short stature, Brachycephaly OMIM:182290
Trisomy 20P
Plagiocephaly, Umbilical hernia, Brachycephaly, Spina bifida, Dolichocephaly, Frontal bossing ORPHA:261318
X-Linked Intellectual Disability, Wilson Type
Brachycephaly, Growth delay ORPHA:85290
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly OMIM:300958
9P13 Microdeletion Syndrome
Short stature, Brachycephaly, Umbilical hernia ORPHA:324313
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Plagiocephaly, Frontal bossing OMIM:618330
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Mesomelic short stature, Dolichocephaly ORPHA:2633
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly OMIM:218000
Chromosome 13Q33-Q34 Deletion Syndrome
Trigonocephaly, Encephalocele, Brachycephaly, Short stature, Anencephaly, Pulmonic stenosis OMIM:619148
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Pentasomy X
Short stature, Plagiocephaly, Delayed puberty ORPHA:11
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Neonatal death, Hydrocephalus, Growth delay ORPHA:85284
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Distal Deletion 10Q
Postnatal growth retardation, Brachycephaly, Craniosynostosis, Short stature, Spina bifida occult... ORPHA:96148
Ritscher-Schinzel Syndrome 4
Short stature, Brachycephaly, Plagiocephaly OMIM:619435
Lujan-Fryns Syndrome
Brachycephaly ORPHA:776
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Disproportionate short-limb short ... OMIM:618644
Lig4 Syndrome
Brachycephaly, Telangiectasia of the skin, Growth delay, Biparietal narrowing ORPHA:99812
Intellectual Developmental Disorder, Autosomal Dominant 48
Intrauterine growth retardation, Plagiocephaly, Umbilical hernia OMIM:617751
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Smith-Magenis Syndrome
Short stature, Brachycephaly, Delayed puberty, Frontal bossing ORPHA:819
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Distal Deletion 3P
Short stature, Brachycephaly, Intrauterine growth retardation, Umbilical hernia ORPHA:1620
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Frontal bossing OMIM:608776
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly OMIM:618828
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Brachycephaly OMIM:301041
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... OMIM:603116
Uruguay Faciocardiomusculoskeletal Syndrome
Hypertrophic cardiomyopathy, Brachyturricephaly, Mitral regurgitation, Cardiomyopathy OMIM:300280
Contractural Arachnodactyly, Congenital
Scaphocephaly, Mitral regurgitation, Brachycephaly, Dolichocephaly, Frontal bossing OMIM:121050
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Acrofrontofacionasal Dysostosis 2
Short stature, Brachycephaly OMIM:239710
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly OMIM:612513
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Frontal bossing OMIM:608688
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
49,Xxxxy Syndrome
Short stature, Brachycephaly, Holoprosencephaly, Pulmonary embolism ORPHA:96264
Cerebrooculonasal Syndrome
Proboscis, Postnatal growth retardation, Encephalocele, Brachycephaly, Hydrocephalus, Craniosynos... OMIM:605627
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Short stature, Craniosynostosis OMIM:618265
Antley-Bixler Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly ORPHA:83
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Encephalocele, Exencephaly, Flat occiput ORPHA:2211
Warburg Micro Syndrome 4
Short stature, Severe postnatal growth retardation, Brachycephaly OMIM:615663
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Frontal bossing OMIM:207410
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Brachycephaly, Neonatal death OMIM:619859
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Brachycephaly, Growth delay OMIM:300260
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis ORPHA:93258
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short stature, Brachycephaly, Lobar holoprosencephaly, Skull asymmetry OMIM:614701
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly OMIM:263210
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Telangiectasia, Brachycephaly, Growth delay, Abnormal parietal bone morphology ORPHA:247262
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Houge-Janssens Syndrome 3
Plagiocephaly, Frontal bossing, Umbilical hernia OMIM:618354
Hyperparathyroidism, Transient Neonatal
Brachycephaly, Communicating hydrocephalus, Frontal bossing, Umbilical hernia OMIM:618188
Acrofrontofacionasal Dysostosis
Short stature, Brachycephaly ORPHA:1784
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:617296
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Growth delay, Flat occiput ORPHA:2707
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Brachycephaly ORPHA:364028
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Brachycephaly, Growth delay, Flat occiput ORPHA:96147
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Intrauterine growth retardation, Mild postnatal growth... OMIM:101800
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Brachycephaly OMIM:619995
Baller-Gerold Syndrome
Brachyturricephaly, Frontal bossing, Intrauterine growth retardation, Brachycephaly, Short statur... ORPHA:1225
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Brachycephaly, Plagiocephaly, Hydrocephalus ORPHA:500055
20Q11.2 Microduplication Syndrome
Trigonocephaly, Brachycephaly, Growth delay, Severe intrauterine growth retardation ORPHA:363659
Lessel-Kreienkamp Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing, Pulmonic stenosis OMIM:619149
Martsolf Syndrome 1
Cardiomyopathy, Congestive heart failure, Brachycephaly, Short stature, Cardiac arrest OMIM:212720
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea OMIM:110100
Cleidocranial Dysplasia
Short stature, Spina bifida occulta, Brachycephaly, Frontal bossing ORPHA:1452
Osteogenesis Imperfecta, Type Xii
Short stature, Brachyturricephaly OMIM:613849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Brachycephaly, Restrictive cardiomyopathy OMIM:615398
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Short stature, Brachycephaly ORPHA:562528
De Barsy Syndrome
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly, S... ORPHA:2962
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Brachycephaly, Growt... ORPHA:261349
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Congenital Disorder Of Glycosylation, Type Iit
Short stature, Brachycephaly OMIM:618885
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Mitral regurgitation, Proporti... OMIM:608328
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly, Hydrocephalus, Shor... OMIM:257300
Adenylosuccinase Deficiency
Brachycephaly, Growth delay OMIM:103050
Apert Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, Rhizomelic arm shorten... OMIM:101200
Warburg Micro Syndrome 3
Postnatal growth retardation, Brachycephaly OMIM:614222
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly OMIM:620073
Cerebrooculonasal Syndrome
Brachycephaly ORPHA:66625
Raine Syndrome
Plagiocephaly, Brachyturricephaly, Neonatal death, Brachycephaly, Hydrocephalus, Short stature OMIM:259775
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Postnatal growth retardation, Brachycephaly OMIM:614800
Apert Syndrome
Brachyturricephaly, Frontal bossing, Hydrocephalus, Hypertension, Acrobrachycephaly, Cloverleaf s... ORPHA:87
Acrodysostosis
Short stature, Brachycephaly, Frontal bossing ORPHA:950
Stevenson-Carey Syndrome
Brachycephaly OMIM:611961
Humeroradial Synostosis
Brachycephaly OMIM:236400
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Postnatal growth retardation, Brachycephaly, Frontal bossing OMIM:156200
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Growth delay OMIM:308350
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput OMIM:618797
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Brachycephaly ORPHA:404440
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia ORPHA:500159
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Proportionate short stature, Brachycephaly, Short st... OMIM:277600
Craniofrontonasal Syndrome
Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Short stature, Frontal bossing OMIM:304110
Marshall Syndrome
Short stature, Brachycephaly, Frontal bossing, Thickened calvaria ORPHA:560
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
3P25.3 Microdeletion Syndrome
Brachycephaly, Pulmonic stenosis ORPHA:435638
Coffin-Siris Syndrome 6
Short stature, Plagiocephaly, Frontal bossing OMIM:617808
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
6Q25 Microdeletion Syndrome
Short stature, Plagiocephaly ORPHA:251056
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly ORPHA:94066
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cranial hyperostosis, Umbilical hernia, Mitral regurgitation, Thickened cal... ORPHA:309282
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Hydrocephalus, Cranial asymmetry, Short stature, Growth delay OMIM:614886
Osteogenesis Imperfecta, Type Xi
Short stature, Brachycephaly OMIM:610968
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Plagiocephaly ORPHA:544469
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Brachycephaly, Craniosynostosis ORPHA:1790
White-Sutton Syndrome
Short stature, Brachycephaly, Intrauterine growth retardation OMIM:616364
Momo Syndrome
Short stature, Brachycephaly, Frontal bossing ORPHA:2563
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Pulmonic stenosis, Cranial asymmetry ORPHA:137634
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Plagiocephaly OMIM:618821
48,Xxxy Syndrome
Brachycephaly, Pulmonary embolism ORPHA:96263
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Brachycephaly, Hydrocephalus, Short stature, Craniosynostosis, Frontal bossing OMIM:245600
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Brachycephaly, Short stature, Frontal bossing, Pulmonic stenosis OMIM:610759
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly, Growth delay OMIM:617798
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Momo Syndrome
Brachycephaly, Frontal bossing OMIM:157980
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Atrioventricular block, Hypertension ORPHA:371428
Lig4 Syndrome
Telangiectasia, Brachycephaly OMIM:606593
Neurofaciodigitorenal Syndrome
Short stature, Brachycephaly, Intrauterine growth retardation, Plagiocephaly ORPHA:2673
Angelman Syndrome
Brachycephaly, Flat occiput OMIM:105830
Pfeiffer Syndrome
Coronal craniosynostosis, Brachyturricephaly, Hydrocephalus, Cloverleaf skull OMIM:101600
Cartilage-Hair Hypoplasia
Rhizomelia, Spinal dysraphism, Disproportionate short-limb short stature, Cardiomyopathy, Brachyc... ORPHA:175
Hunter-Macdonald Syndrome
Aortic regurgitation, Umbilical hernia, Mitral regurgitation, Brachycephaly, Short stature, Hyper... OMIM:611962
Trisomy 9P
Brachycephaly ORPHA:236
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Brachycephaly, Frontal bossing OMIM:257850
Beck-Fahrner Syndrome
Brachycephaly OMIM:618798
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Saethre-Chotzen Syndrome
Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:794
Kleefstra Syndrome
Short stature, Brachycephaly, Arrhythmia ORPHA:261494
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Aymé-Gripp Syndrome
Plagiocephaly, Postnatal growth retardation, Brachycephaly, Hydrocephalus, Short stature, Cranios... ORPHA:1272
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Umbilical hernia, Dolichocephaly, Hydrocephalus, Craniosynostosis, Frontal bo... OMIM:182212
Dysostosis, Stanescu Type
Short stature, Brachycephaly ORPHA:1798
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Adnp Syndrome
Plagiocephaly, Umbilical hernia, Trigonocephaly, Brachycephaly, Short stature ORPHA:404448
Warburg Micro Syndrome 2
Postnatal growth retardation, Brachycephaly OMIM:614225
Congenital Disorder Of Glycosylation, Type Iia
Short stature, Postnatal growth retardation, Brachycephaly OMIM:212066
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short stature, Plagiocephaly OMIM:618089
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly, Intrauterine growth retardation OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
9Q33.3Q34.11 Microdeletion Syndrome
Telangiectasia, Epistaxis, Brachycephaly, Plagiocephaly ORPHA:495818
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Oxycephaly, Trigonocephaly, Scaphocephaly,... OMIM:614188
Hoxha-Aliu Syndrome
Brachycephaly OMIM:620662
Cree Impaired Intellectual Development Syndrome
Brachycephaly OMIM:606851
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Brachycephaly, Delayed puberty, Mild postnatal growth retardation ORPHA:456312
Down Syndrome
Short stature, Brachycephaly, Delayed puberty, Umbilical hernia ORPHA:870
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Intrauterine growth retardation, Prominent occiput, Short stature, Spina bifida oc... OMIM:617360
Loeys-Dietz Syndrome 5
Mitral regurgitation, Brachycephaly, Short stature, Dolichocephaly, Growth delay OMIM:615582
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Intrauterine growth retardation, Plagiocephaly, Hydrocephalus OMIM:619833
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Intrauterine growth retardation, Plagiocephaly, Frontal bossing ORPHA:371364
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Brachycephaly OMIM:156400
19P13.13 Microdeletion Syndrome
Dolichocephaly, Brachycephaly ORPHA:357001
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing ORPHA:85199
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Brachycephaly, Hydrocephalus, Craniosynostosis, Short stature, Dolichoceph... ORPHA:96121
Baller-Gerold Syndrome
Severe short stature, Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachyturricephaly, ... OMIM:218600
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Fg Syndrome Type 1
Plagiocephaly, Umbilical hernia, Prominent occiput, Pulmonary arterial hypertension, Hydrocephalu... ORPHA:93932
Cerebrofaciothoracic Dysplasia
Short stature, Brachycephaly ORPHA:1394
Hamamy Syndrome
Craniosynostosis, Brachycephaly, Prolonged QRS complex, Mitral regurgitation OMIM:611174
Kleefstra Syndrome 1
Brachycephaly OMIM:610253
Duplication Of The Pituitary Gland
Short stature, Brachyturricephaly, Encephalocele ORPHA:314621
Cartilage-Hair Hypoplasia
Brachycephaly, Neonatal short-limb short stature, Absent pubertal growth spurt OMIM:250250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short stature, Brachycephaly, Thickened calvaria OMIM:309583
Fontaine Progeroid Syndrome
Coronal craniosynostosis, Umbilical hernia, Tricuspid regurgitation, Intrauterine growth retardat... OMIM:612289
Houge-Janssens Syndrome 2
Plagiocephaly, Hydrocephalus OMIM:616362
Sweeney-Cox Syndrome
Brachycephaly, Flat occiput OMIM:617746
Fucosidosis
Brachycephaly ORPHA:349
Aromatase Deficiency
Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea ORPHA:91
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Frontal bossing, Turricephaly, Brachycephaly, Delayed puberty, Hydrocephalus, Stillbirth, Cranios... ORPHA:95699
Treacher-Collins Syndrome
Brachycephaly, Branchial fistula, Encephalocele, Frontal bossing ORPHA:861
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Brachycephaly, Hydrocephalus, Aqueductal stenosis, Frontal bossing OMIM:619512
Frontofacionasal Dysplasia
Cranium bifidum occultum, Hypoplasia of the frontal bone, Brachycephaly OMIM:229400
White-Sutton Syndrome
Short stature, Brachycephaly ORPHA:468678
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing ORPHA:420179
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Brachycephaly OMIM:300968
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Plagiocephaly, Frontal bossing, Umbilical hernia OMIM:280000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Short stature, Brachycephaly, Frontal bossing OMIM:259600
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Spina bifida occulta, Plagiocephaly OMIM:619227
Ring Chromosome 7 Syndrome
Plagiocephaly, Brachycephaly, Severe intrauterine growth retardation, Short stature, Heart murmur... ORPHA:1449
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short stature, Brachycephaly, Frontal bossing OMIM:616728
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Frontal bossing, Parietal bossing, Hydroce... OMIM:610828
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Hallermann-Streiff Syndrome
Brachycephaly, Congestive heart failure, Frontal bossing, Proportionate short stature ORPHA:2108
Gorlin Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus ORPHA:377
Osteogenesis Imperfecta
Aortic regurgitation, Rhizomelia, Umbilical hernia, Intrauterine growth retardation, Prominent oc... ORPHA:666
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Plagiocephaly, Flat occiput OMIM:619383
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Dolichocephaly ORPHA:1101
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Brachycephaly, Restrictive cardiomyopathy ORPHA:369837
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly OMIM:618268
Branchioskeletogenital Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly, Umbilical hernia ORPHA:1299
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing OMIM:619293
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachycephaly, Growth delay OMIM:601353
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Brachycephaly, Plagiocephaly OMIM:301072
Kaufman Oculocerebrofacial Syndrome
Short stature, Brachycephaly OMIM:244450
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short stature, Postnatal growth retardation, Brachycephaly, Craniosynostosis OMIM:213980
Arthrogryposis And Ectodermal Dysplasia
Short stature, Brachycephaly OMIM:601701
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Brachycephaly, Pulmonic stenosis OMIM:618223
Galloway-Mowat Syndrome 4
Short stature, Plagiocephaly OMIM:617730
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Short stature, Postnatal growth retardation, Brachycephaly, Delayed puberty OMIM:616263
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... ORPHA:572333
Cornelia De Lange Syndrome 1
Short stature, Brachycephaly, Intrauterine growth retardation OMIM:122470
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Growth delay, Anterior plagiocephaly, Left unicoronal synostosis OMIM:614749
Alg9-Cdg
Tricuspid regurgitation, Brachycephaly, Rhizomelia, Frontal bossing ORPHA:79328
Peters Plus Syndrome
Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, Postnatal growth retarda... ORPHA:709
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Brachycephaly, Frontal bossing ORPHA:1236
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Brachycephaly, Decreased calvarial ossification, Frontal bossing, Neonatal death OMIM:617925
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... OMIM:101400
Intellectual Disability-Strabismus Syndrome
Short stature, Intrauterine growth retardation, Plagiocephaly ORPHA:363528
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Brachycephaly OMIM:601776
Turnpenny-Fry Syndrome
Aortic regurgitation, Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Frontal boss... OMIM:618371
Intellectual Developmental Disorder, Autosomal Dominant 29
Brachycephaly, Frontal bossing OMIM:616078
Thrombocytopenia-Absent Radius Syndrome
Short stature, Brachycephaly, Spina bifida OMIM:274000
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Growth delay OMIM:619188
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posterior plagiocephaly, Umbilical hernia, Scaphocephaly, Brachycephaly, Dolichocephaly, Frontal ... OMIM:620330
Acromelic Frontonasal Dysostosis
Parietal foramina, Brachycephaly, Encephalocele OMIM:603671
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Turricephaly, Intraventricular hemorrhage, Hydrocephalus, Frontal bossing OMIM:613603
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Craniosynostosis, Plagiocephaly, Growth delay ORPHA:457193
Carpenter Syndrome 2
Umbilical hernia, Tricuspid regurgitation, Trigonocephaly, Oxycephaly, Brachycephaly, Craniosynos... OMIM:614976
Specc1L-Related Hypertelorism Syndrome
Brachycephaly, Arrhythmia, Umbilical hernia ORPHA:1519
Osteopetrosis With Renal Tubular Acidosis
Plagiocephaly, Thickened calvaria, Brachycephaly, Pulmonary arterial hypertension, Short stature ORPHA:2785
Autosomal Recessive Faciodigitogenital Syndrome
Short stature, Brachycephaly, Frontal bossing ORPHA:1974
Frank-Ter Haar Syndrome
Brachycephaly, Growth delay, Flat occiput OMIM:249420
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Acrofrontofacionasal Dysostosis 1
Short stature, Brachycephaly OMIM:201180
Ayme-Gripp Syndrome
Short stature, Craniofacial asymmetry, Brachycephaly, Pericarditis OMIM:601088
Doors Syndrome
Sirenomelia, Prominent occiput, Anterior plagiocephaly, Brachycephaly, Sagittal craniosynostosis,... ORPHA:79500
Noonan Syndrome 13
Plagiocephaly, Mitral regurgitation OMIM:619087
Coffin-Siris Syndrome 1
Plagiocephaly, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, B... OMIM:135900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Frontal bossing OMIM:619720
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Growth delay, Cranial asymmetry OMIM:163200
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Brachycephaly, Pulmonary arterial hypertension, Delayed puberty... ORPHA:2072
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Postnatal growth retardation, Mitral regurgitation, Brachycephaly, Short... OMIM:619127
Roberts Syndrome
Postnatal growth retardation, Brachycephaly, Craniosynostosis, Severe intrauterine growth retarda... ORPHA:3103
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Plagiocephaly, Mitral regurgitation, Sinus bradycardia OMIM:261990
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Plagiocephaly ORPHA:251061
Anauxetic Dysplasia 3
Severe short stature, Plagiocephaly OMIM:618853
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly ORPHA:521445
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Brachyturricephaly ORPHA:93260
Dihydropyrimidinase Deficiency
Plagiocephaly, Growth delay OMIM:222748
Distal Deletion 12Q
Short stature, Brachycephaly, Growth delay, Frontal bossing ORPHA:96149
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Postnatal growth retardation, Plagiocephaly, Flat occiput ORPHA:300570
Common Variable Immunodeficiency
Vasculitis, Brachycephaly ORPHA:1572
Kbg Syndrome
Short stature, Brachycephaly OMIM:148050
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Plagiocephaly, Growth delay OMIM:615471
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Intrauterine growth retardation, Decreased heart rate variability, Dolichocephaly,... OMIM:619005
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Frontal bossing, Prominent occiput, Biparietal narrowing, Growth delay ORPHA:2612
X-Linked Intellectual Disability, Snyder Type
Short stature, Brachycephaly ORPHA:3063
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Intrauterine growth retardation, Plagiocephaly, Branchial anomaly ORPHA:453499
Intellectual Developmental Disorder, Autosomal Dominant 58
Short stature, Plagiocephaly OMIM:618106
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brachyturricephaly, Flat occiput OMIM:214100
Congenital Myopathy 13
Short stature, Brachycephaly OMIM:255995
Opitz-Kaveggia Syndrome
Plagiocephaly, Umbilical hernia, Hydrocephalus, Short stature, Frontal bossing OMIM:305450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short stature, Brachycephaly, Growth delay OMIM:619950
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly OMIM:608980
Monosomy 9P
Trigonocephaly, Brachycephaly, Calvarial skull defect ORPHA:261112
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Brachycephaly OMIM:263520
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Hydrocephalus OMIM:617822
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short stature, Trigonocephaly, Brachycephaly, Craniosynostosis OMIM:309590
Joubert Syndrome 1
Occipital myelomeningocele, Plagiocephaly OMIM:213300
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Growth delay, Frontal bossing OMIM:617193
Gapo Syndrome
Frontal bossing, Plagiocephaly, Growth delay, Umbilical hernia OMIM:230740
Au-Kline Syndrome
Plagiocephaly, Dolichocephaly, Sagittal craniosynostosis, Lipomyelomeningocele, Craniosynostosis,... OMIM:616580
14Q22Q23 Microdeletion Syndrome
Short stature, Brachycephaly ORPHA:264200
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Dolichocephaly, Plagiocephaly ORPHA:2215
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly, Proportionate short stature OMIM:227330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Right-to-left shunt, Neonatal death, Brachycephaly, Pulmonary arterial hypertension, Pulmonary in... OMIM:265380
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short stature, Brachycephaly, Intrauterine growth retardation, Frontal bossing OMIM:617157
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Dolichocephaly, Plagiocephaly, Frontal bossing ORPHA:457279
Congenital Disorder Of Deglycosylation 1
Brachycephaly OMIM:615273
Developmental And Epileptic Encephalopathy 84