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Gene: Arnt MGI:88071

Gene Summary

Name:

aryl hydrocarbon receptor nuclear translocator

Synonyms:

Hif1b, ESTM42, D3Ertd557e, bHLHe2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Arnt^em1(IMPC)H	HOM	Early adult	0.00
increased mean corpuscular volume	Arnt^em1(IMPC)H	HET	Early adult	9.55×10^-07
increased mean platelet volume	Arnt^em1(IMPC)H	HET	Early adult	6.29×10^-11

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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.

Human diseases associated with Arnt (0 diseases)
Human diseases predicted to be associated with Arnt (517 diseases)

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	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
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
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
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
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 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:125520
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Gómez-López-Hernández Syndrome	Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Midface retrusion	ORPHA:1532
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Brachycephaly, Flat occiput, Bradycardia	ORPHA:2898
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Short stature, Brachycephaly	ORPHA:2528
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Adenylosuccinate Lyase Deficiency	Flat occiput, Brachycephaly	ORPHA:46
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterine...	ORPHA:272
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus	OMIM:614432
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Short stature, Brachycephaly	ORPHA:1514
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Non-Distal Duplication 10Q	Frontal bossing, Short stature, Brachycephaly	ORPHA:1695
Intellectual Developmental Disorder, Autosomal Dominant 26	Umbilical hernia, Short stature, Brachycephaly, Intrauterine growth retardation	OMIM:615834
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Intrauterine growth retardation	OMIM:600325
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis	OMIM:618736
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Potocki-Shaffer Syndrome	Parietal foramina, Hypertension, Brachycephaly, Delayed puberty	ORPHA:52022
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brac...	OMIM:218350
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Midface retrusion	OMIM:618577
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Craniosynostosis, Hydrocephalus, Brachycephaly, Umbilical hernia	ORPHA:171839
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly	OMIM:264470
Cornelia De Lange Syndrome 2	Short stature, Postnatal growth retardation, Brachycephaly, Intrauterine growth retardation, Hype...	OMIM:300590
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Coronal craniosyn...	ORPHA:228390
Potocki-Shaffer Syndrome	Parietal foramina, Turricephaly, Brachycephaly	OMIM:601224
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion	OMIM:618774
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Camptodactyly Syndrome, Guadalajara Type 1	Short stature, Spina bifida, Brachycephaly, Intrauterine growth retardation, Midface retrusion	ORPHA:1327
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Alobar holoprosencephaly, Brachycephaly, Dolichocephaly	OMIM:615433
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Intrauterine growth retardation	ORPHA:2145
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
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
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Pseudodiastrophic Dysplasia	Frontal bossing, Severe short stature, Rhizomelia, Brachycephaly, Midface retrusion	OMIM:264180
Pierpont Syndrome	Short stature, Brachycephaly, Midface retrusion	OMIM:602342
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Short stature, Brachycephaly, Craniosynostosis	ORPHA:314575
Crouzon Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Mi...	ORPHA:207
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Short stature, Postnatal growth retardation, Brachycephaly, Growth delay, Dolichoce...	OMIM:613792
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly	OMIM:615419
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cooper-Jabs Syndrome	Umbilical hernia, Frontal bossing, Brachycephaly, Short stature	ORPHA:1488
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul...	ORPHA:229
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly	ORPHA:93950
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Brachycephaly, Prominent occiput, Pulmonic stenosis, Intrauterine growth retardati...	OMIM:220210
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly	OMIM:618672
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly	ORPHA:93262
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Brachycephaly, Growth delay, Pulmonic stenosis, Midface retrusion	OMIM:179613
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Frontal bossing, Brachycephaly, Intrauterine growth retardation	OMIM:616801
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Varicose Veins	Varicose veins	OMIM:192200
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Brachycephaly, Midface retrusion	ORPHA:1387
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Brachycephaly, Plagiocephaly, Umbilical hernia, Midface retrusion	ORPHA:369891
Pontocerebellar Hypoplasia, Type 3	Short stature, Brachycephaly	OMIM:608027
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Short stature, Brachycephaly, Biparietal narrowing, Umbilical hernia, Intrauteri...	ORPHA:1292
Pierpont Syndrome	Brachycephaly	ORPHA:487825
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Short stature, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion	OMIM:619721
Fetal Trimethadione Syndrome	Intrauterine growth retardation, Brachycephaly, Midface retrusion	ORPHA:1913
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Intrauterine growth retardation	OMIM:219150
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Skull asymmetry, Midface retrusion	OMIM:601853
Laurence-Moon Syndrome	Short stature, Brachycephaly	ORPHA:2377
Clark-Baraitser Syndrome	Brachycephaly, Dolichocephaly	OMIM:617752
Grant Syndrome	Frontal bossing, Short stature, Brachycephaly	ORPHA:2097
Muenke Syndrome	Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion	OMIM:602849
Chopra-Amiel-Gordon Syndrome	Postnatal growth retardation, Short stature, Brachycephaly, Midface retrusion	OMIM:619504
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Brachycephaly	ORPHA:70472
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis	OMIM:126320
German Syndrome	Short stature, Brachycephaly, Dolichocephaly, Midface retrusion	ORPHA:2077
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Brachycephaly	OMIM:618603
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Mitral regurgitation, Brachycephaly, Midface retrusion	OMIM:615539
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Flat occiput, Brachycephaly	ORPHA:2511
Menkes Disease	Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Brachycephaly	OMIM:309400
Desanto-Shinawi Syndrome	Brachycephaly, Midface retrusion	OMIM:616708
Cornelia De Lange Syndrome 5	Postnatal growth retardation, Short stature, Brachycephaly	OMIM:300882
Even-Plus Syndrome	Severe short stature, Brachycephaly, Midface retrusion	OMIM:616854
Frontofacionasal Dysplasia	Encephalocele, Short stature, Brachycephaly, Midface retrusion	ORPHA:1791
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachycephaly, Trigonocep...	ORPHA:459061
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Craniofrontonasal Dysplasia	Plagiocephaly, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:1520
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Short stature, Brachycephaly	OMIM:268850
Osteopathia Striata-Cranial Sclerosis Syndrome	Frontal bossing, Flat occiput, Severe short stature, Facial hyperostosis, Brachycephaly, Aortic v...	ORPHA:2780
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Short stature, Brachycephaly, Midface retrusion	OMIM:600430
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly, Holoprosencephaly	ORPHA:2163
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Muenke Syndrome	Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly	ORPHA:53271
Kleefstra Syndrome Due To A Point Mutation	Short stature, Brachycephaly, Plagiocephaly, Umbilical hernia, Midface retrusion	ORPHA:261652
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Short stature, Brachycephaly	OMIM:618862
2Q32Q33 Microdeletion Syndrome	Growth delay, Short stature, Brachycephaly	ORPHA:251019
Monosomy 18P	Hypertension, Holoprosencephaly, Short stature, Brachycephaly	ORPHA:1598
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly, Telangiectasia, Umbilical hernia, Midface retrusion	OMIM:612582
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
8Q12 Microduplication Syndrome	Brachycephaly	ORPHA:228399
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost...	OMIM:123500
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Brachycephaly	OMIM:617364
Gorlin-Chaudhry-Moss Syndrome	Umbilical hernia, Coronal craniosynostosis, Short stature, Brachycephaly	ORPHA:2095
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Frontonasal Dysplasia 2	Encephalocele, Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Intrau...	OMIM:613451
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, Frontal bossing, Brachycephaly, Midface retrusion	OMIM:618430
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Brachyturricephaly, Ethmoidal encephalocele	OMIM:607597
Carpenter Syndrome 1	Short stature, Sagittal craniosynostosis, Brachycephaly, Pulmonic stenosis, Lambdoidal craniosyno...	OMIM:201000
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Short stature, Brachycephaly	OMIM:609757
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Vulto-Van Silfhout-De Vries Syndrome	Frontal bossing, Brachycephaly	OMIM:615828
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Intrauterine growth retardation, Brachycephaly	OMIM:618142
Smith-Magenis Syndrome	Short stature, Brachycephaly, Midface retrusion	OMIM:182290
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Short stature, Brachycephaly	OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:616789
Inverted Duplicated Chromosome 15 Syndrome	Growth delay, Frontal bossing, Brachycephaly	ORPHA:3306
2Q23.1 Microdeletion Syndrome	Growth delay, Short stature, Brachycephaly	ORPHA:228402
Alagille Syndrome	Frontal bossing, Telangiectasia of the skin, Brachycephaly, Hypertension, Delayed puberty, Intrau...	ORPHA:52
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Intrauterine growth retardation, Flat occiput, Short stature, Brachycephaly	OMIM:617452
Pde4D Haploinsufficiency Syndrome	Frontal bossing, Postnatal growth retardation, Brachycephaly, Hypotension, Intrauterine growth re...	ORPHA:439822
Gorlin Syndrome	Frontal bossing, Hydrocephalus, Brachycephaly	ORPHA:377
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Craniosynostosis, Brachycephaly, Mitral regurgitation, Intrauterine growth ...	ORPHA:254346
Al Kaissi Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Short stature, Brachycephaly	OMIM:617694
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Intrauterine growth retardation, Flat occiput, Short stature, Brachycephaly	ORPHA:505237
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Craniosynostosis	OMIM:613174
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Hallermann-Streiff Syndrome	Frontal bossing, Spina bifida, Proportionate short stature, Scaphocephaly, Brachycephaly, Telangi...	OMIM:234100
Achondrogenesis, Type Ii	Frontal bossing, Disproportionate short-trunk short stature, Brachycephaly, Stillbirth, Dispropor...	OMIM:200610
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Short stature, Myocardial infarction, Brachycephaly, Growth delay, Hypertrop...	ORPHA:500
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Larsen-Like Syndrome	Frontal bossing, Short stature, Brachycephaly	OMIM:608545
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, Intrauterine growth reta...	OMIM:618644
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Spina bifida, Hydrocephalus, Brachycephaly, Plagiocephaly, Umbilical hernia	OMIM:613776
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Anterior plagiocephaly, Frontal bossing, Brachycephaly	ORPHA:163649
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Kury-Isidor Syndrome	Growth delay, Frontal bossing, Brachycephaly	OMIM:619762
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Brachycephaly	OMIM:616897
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Lambdoidal craniosy...	OMIM:603116
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Brachycephaly	OMIM:608776
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Brachycephaly	ORPHA:1827
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly	OMIM:300958
Trisomy 20P	Frontal bossing, Spina bifida, Brachycephaly, Plagiocephaly, Dolichocephaly, Umbilical hernia	ORPHA:261318
X-Linked Intellectual Disability, Wilson Type	Growth delay, Brachycephaly	ORPHA:85290
9P13 Microdeletion Syndrome	Umbilical hernia, Short stature, Brachycephaly	ORPHA:324313
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Brachycephaly, Bicoronal synostosis, Midface retrusion	ORPHA:93258
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Mesomelic Dysplasia, Nievergelt Type	Mesomelic short stature, Brachycephaly, Dolichocephaly	ORPHA:2633
Smith-Magenis Syndrome	Frontal bossing, Short stature, Brachycephaly, Delayed puberty, Midface retrusion	ORPHA:819
Acrofrontofacionasal Dysostosis	Short stature, Brachycephaly, Midface retrusion	ORPHA:1784
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Short stature, Anencephaly, Brachycephaly, Pulmonic stenosis, Trigonocephaly	OMIM:619148
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly	OMIM:218000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto...	OMIM:207410
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Osteogenesis Imperfecta, Type Xii	Brachyturricephaly, Short stature, Midface retrusion	OMIM:613849
Distal Deletion 10Q	Frontal bossing, Short stature, Craniosynostosis, Postnatal growth retardation, Brachycephaly, Sp...	ORPHA:96148
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Lujan-Fryns Syndrome	Brachycephaly	ORPHA:776
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Short stature, Brachycephaly	OMIM:619435
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Flat occiput, Brachycephaly, Growth delay, Aortic valve stenosis, Midface r...	ORPHA:96147
Lig4 Syndrome	Growth delay, Telangiectasia of the skin, Brachycephaly, Biparietal narrowing	ORPHA:99812
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Short stature, Hydrocephalus, Brachycephaly, Disproportionate ...	OMIM:101800
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Brachycephaly	OMIM:301041
Distal Deletion 3P	Umbilical hernia, Short stature, Brachycephaly, Intrauterine growth retardation	ORPHA:1620
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly	OMIM:618828
Acrofrontofacionasal Dysostosis 2	Short stature, Brachycephaly	OMIM:239710
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Short stature, Brachycephaly	OMIM:612513
49,Xxxxy Syndrome	Holoprosencephaly, Short stature, Brachycephaly, Pulmonary embolism	ORPHA:96264
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Short stature, Brachycephaly	OMIM:615663
Uruguay Faciocardiomusculoskeletal Syndrome	Cardiomyopathy, Mitral regurgitation, Brachyturricephaly, Hypertrophic cardiomyopathy	OMIM:300280
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Postnatal growth retardation, Hydroc...	OMIM:605627
Cleidocranial Dysplasia	Frontal bossing, Short stature, Brachycephaly, Spina bifida occulta, Midface retrusion	ORPHA:1452
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Short stature, Brachycephaly	OMIM:619859
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Contractural Arachnodactyly, Congenital	Frontal bossing, Scaphocephaly, Brachycephaly, Mitral regurgitation, Dolichocephaly	OMIM:121050
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Brachycephaly, Craniosynostosis	ORPHA:83
Acrodysostosis	Short stature, Brachycephaly, Midface retrusion	ORPHA:950
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, Midface retrusion	OMIM:300260
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Skull asymmetry, Short stature, Brachycephaly, Lobar holoprosencephaly	OMIM:614701
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly	OMIM:263210
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Postnatal growth retardation, Hydrocephalus, Brachycephaly, Pulmonic stenosis, Int...	OMIM:257300
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Brachycephaly, Flat occiput, Exencephaly	ORPHA:2211
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Brachycephaly	OMIM:608688
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Down Syndrome	Umbilical hernia, Brachycephaly	ORPHA:870
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Telangiectasia, Plagiocephaly, Growth delay, Abnormal parietal bone morphology	ORPHA:247262
Apert Syndrome	Frontal bossing, Cloverleaf skull, Hydrocephalus, Hypertension, Acrobrachycephaly, Brachyturricep...	ORPHA:87
Apert Syndrome	Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, Brachycephaly, Rhizomelic arm shorten...	OMIM:101200
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion	ORPHA:1790
Oculocerebrofacial Syndrome, Kaufman Type	Growth delay, Flat occiput, Brachycephaly	ORPHA:2707
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Umbilical hernia, Frontal bossing, Brachycephaly	OMIM:618188
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Brachycephaly	ORPHA:364028
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Brachycephaly	OMIM:619995
Raine Syndrome	Short stature, Hydrocephalus, Brachycephaly, Plagiocephaly, Neonatal death, Brachyturricephaly, M...	OMIM:259775
Baller-Gerold Syndrome	Frontal bossing, Short stature, Brachycephaly, Growth delay, Intrauterine growth retardation, Bra...	ORPHA:1225
20Q11.2 Microduplication Syndrome	Trigonocephaly, Severe intrauterine growth retardation, Growth delay, Brachycephaly	ORPHA:363659
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Frontal bossing, Brachycephaly	OMIM:617296
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Short stature, Brachycephaly	ORPHA:562528
Intellectual Developmental Disorder, Autosomal Dominant 1	Frontal bossing, Short stature, Postnatal growth retardation, Brachycephaly, Midface retrusion	OMIM:156200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Brachycephaly, Lambdoidal craniosynostosis	OMIM:615398
Martsolf Syndrome 1	Short stature, Cardiac arrest, Congestive heart failure, Brachycephaly, Cardiomyopathy	OMIM:212720
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Hydrocephalus, Short stature, Brachycephaly	ORPHA:500055
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Brachycephaly, Growth delay, Mitral regurgitation, Intrauterine growth reta...	ORPHA:261349
Adenylosuccinase Deficiency	Growth delay, Brachycephaly	OMIM:103050
Hunter-Macdonald Syndrome	Aortic regurgitation, Short stature, Brachycephaly, Hypertension, Mitral regurgitation, Umbilical...	OMIM:611962
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Congestive heart failure, Broad skull, Brachycephaly,...	OMIM:608328
De Barsy Syndrome	Short stature, Postnatal growth retardation, Brachycephaly, Umbilical hernia, Intrauterine growth...	ORPHA:2962
Warburg Micro Syndrome 3	Postnatal growth retardation, Brachycephaly	OMIM:614222
Congenital Disorder Of Glycosylation, Type Iit	Short stature, Brachycephaly	OMIM:618885
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Short stature, Brachycephaly	OMIM:614800
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Stevenson-Carey Syndrome	Brachycephaly	OMIM:611961
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Broad skull, Brachycephaly, Mitral regurgitation, Pul...	OMIM:277600
Craniofrontonasal Syndrome	Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Coronal craniosynostosis	OMIM:304110
Dysostosis, Stanescu Type	Short stature, Brachycephaly, Midface retrusion	ORPHA:1798
3P25.3 Microdeletion Syndrome	Brachycephaly, Pulmonic stenosis	ORPHA:435638
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly	ORPHA:404440
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Marshall Syndrome	Frontal bossing, Thickened calvaria, Brachycephaly, Short stature	ORPHA:560
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Frontal bossing, Short stature, Rhizomelia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midfa...	OMIM:245600
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Communicating hydrocephalus, Craniosynostosis, Cranial hyperostosis, Brachy...	ORPHA:309282
White-Sutton Syndrome	Intrauterine growth retardation, Short stature, Brachycephaly	OMIM:616364
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly	OMIM:610968
48,Xxxy Syndrome	Brachycephaly, Pulmonary embolism	ORPHA:96263
Momo Syndrome	Frontal bossing, Short stature, Brachycephaly	ORPHA:2563
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Brachycephaly, Midface retrusion	OMIM:619229
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Pfeiffer Syndrome	Hydrocephalus, Coronal craniosynostosis, Cloverleaf skull, Brachyturricephaly	OMIM:101600
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Short stature, Brachycephaly, Plagiocephaly, Pulmonic stenosis	OMIM:610759
Craniosynostosis And Dental Anomalies	Frontal bossing, Turricephaly, Flat occiput, Short stature, Sagittal craniosynostosis, Scaphoceph...	OMIM:614188
Momo Syndrome	Frontal bossing, Brachycephaly	OMIM:157980
Angelman Syndrome	Flat occiput, Brachycephaly	OMIM:105830
Duplication Of The Pituitary Gland	Encephalocele, Brachyturricephaly, Short stature, Midface retrusion	ORPHA:314621
Loeys-Dietz Syndrome 5	Short stature, Brachycephaly, Growth delay, Mitral regurgitation, Dolichocephaly, Midface retrusion	OMIM:615582
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Posterior plagiocephaly, Brachycephaly	OMIM:617798
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Brachycephaly, Atrioventricular block	ORPHA:371428
Neurofaciodigitorenal Syndrome	Plagiocephaly, Intrauterine growth retardation, Short stature, Brachycephaly	ORPHA:2673
Kleefstra Syndrome 1	Brachycephaly, Midface retrusion	OMIM:610253
Cerebrofaciothoracic Dysplasia	Short stature, Brachycephaly, Midface retrusion	ORPHA:1394
Trisomy 9P	Brachycephaly	ORPHA:236
Lig4 Syndrome	Brachycephaly, Telangiectasia	OMIM:606593
Beck-Fahrner Syndrome	Brachycephaly	OMIM:618798
Oculodentodigital Dysplasia, Autosomal Recessive	Frontal bossing, Short stature, Brachycephaly	OMIM:257850
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Frontofacionasal Dysplasia	Cranium bifidum occultum, Brachycephaly, Hypoplasia of the frontal bone, Midface retrusion	OMIM:229400
Cartilage-Hair Hypoplasia	Rhizomelia, Heart block, Brachycephaly, Spinal dysraphism, Cardiomyopathy, Disproportionate short...	ORPHA:175
Saethre-Chotzen Syndrome	Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis	ORPHA:794
Aymé-Gripp Syndrome	Pericarditis, Short stature, Craniosynostosis, Postnatal growth retardation, Hydrocephalus, Brach...	ORPHA:1272
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Short stature, Brachycephaly	OMIM:212066
Warburg Micro Syndrome 2	Postnatal growth retardation, Brachycephaly	OMIM:614225
Acromelic Frontonasal Dysostosis	Encephalocele, Brachycephaly, Parietal foramina	OMIM:603671
Kleefstra Syndrome	Arrhythmia, Short stature, Brachycephaly	ORPHA:261494
Sweeney-Cox Syndrome	Flat occiput, Brachycephaly, Midface retrusion	OMIM:617746
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Craniosynostosis, Hydrocephalus, Dolichocephaly, Umbilical hernia, Brachyturrice...	OMIM:182212
Adnp Syndrome	Short stature, Brachycephaly, Plagiocephaly, Trigonocephaly, Umbilical hernia	ORPHA:404448
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Mild postnatal growth retardation, Brachycephaly, Delayed puberty	ORPHA:456312
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Brachycephaly	OMIM:156400
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Brachycephaly, Epistaxis, Telangiectasia	ORPHA:495818
7Q11.23 Microduplication Syndrome	Short stature, Craniosynostosis, Hydrocephalus, Brachycephaly, Growth delay, Dolichocephaly, Aort...	ORPHA:96121
Baller-Gerold Syndrome	Turricephaly, Severe short stature, Short stature, Sagittal craniosynostosis, Craniosynostosis, H...	OMIM:218600
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Frontal bossing, Brachycephaly, Midface retrusion	ORPHA:861
19P13.13 Microdeletion Syndrome	Brachycephaly, Dolichocephaly	ORPHA:357001
Fontaine Progeroid Syndrome	Turricephaly, Tricuspid regurgitation, Short stature, Craniosynostosis, Hydrocephalus, Brachyceph...	OMIM:612289
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosynostosis	ORPHA:85199
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
White-Sutton Syndrome	Short stature, Brachycephaly, Midface retrusion	ORPHA:468678
Hamamy Syndrome	Mitral regurgitation, Prolonged QRS complex, Brachycephaly, Craniosynostosis	OMIM:611174
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Aqueductal stenosis, Hydrocephalus, Brachycephaly, Plagiocephaly, Midface retrusion	OMIM:619512
Cree Mental Retardation Syndrome	Brachycephaly	OMIM:606851
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Frontal bossing, Turricephaly, Craniosynostosis, Hydrocephalus, Brachycephaly, Hypertension, Stil...	ORPHA:95699
Cartilage-Hair Hypoplasia	Absent pubertal growth spurt, Neonatal short-limb short stature, Brachycephaly	OMIM:250250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thickened calvaria, Brachycephaly, Short stature	OMIM:309583
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Short stature, Postnatal growth retardation, Brachycephaly, Delayed puberty, Midface retrusion	OMIM:616263
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Brachycephaly	OMIM:300968
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Fucosidosis	Brachycephaly	ORPHA:349
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Brachycephaly, Midface retrusion	OMIM:618268
Multicentric Osteolysis, Nodulosis, And Arthropathy	Frontal bossing, Short stature, Brachycephaly	OMIM:259600
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Plagiocephaly, Umbilical hernia, Frontal bossing, Brachycephaly	OMIM:280000
Ring Chromosome 7 Syndrome	Short stature, Brachycephaly, Heart murmur, Plagiocephaly, Holoprosencephaly, Severe intrauterine...	ORPHA:1449
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Short stature, Brachycephaly	OMIM:616728
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly	OMIM:156610
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Brachycephaly, Craniosynostosis	ORPHA:369837
Osteogenesis Imperfecta	Aortic regurgitation, Short stature, Rhizomelia, Cerebral hemorrhage, Hydrocephalus, Brachycephal...	ORPHA:666
Ayme-Gripp Syndrome	Pericarditis, Short stature, Brachycephaly, Craniofacial asymmetry, Midface retrusion	OMIM:601088
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Short stature, Brachycephaly	OMIM:301072
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Growth delay, Brachycephaly	OMIM:601353
Branchioskeletogenital Syndrome	Umbilical hernia, Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:1299
Kaufman Oculocerebrofacial Syndrome	Short stature, Brachycephaly	OMIM:244450
Hallermann-Streiff Syndrome	Congestive heart failure, Frontal bossing, Brachycephaly, Proportionate short stature	ORPHA:2108
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
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Postnatal growth retardation, Short stature, Brachycephaly, Craniosynostosis	OMIM:213980
Carpenter Syndrome 2	Frontal bossing, Tricuspid regurgitation, Craniosynostosis, Oxycephaly, Brachycephaly, Trigonocep...	OMIM:614976
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Brachyturricephaly, Midface retrusion	ORPHA:93260
Cornelia De Lange Syndrome 1	Intrauterine growth retardation, Short stature, Brachycephaly	OMIM:122470
Alg9-Cdg	Frontal bossing, Tricuspid regurgitation, Rhizomelia, Brachycephaly	ORPHA:79328
Thrombocytopenia-Absent Radius Syndrome	Short stature, Brachycephaly, Spina bifida	OMIM:274000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Brachycephaly	ORPHA:1236
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Frontal bossing, Decreased calvarial ossification, Brachycephaly	OMIM:617925
Osteopetrosis With Renal Tubular Acidosis	Short stature, Brachycephaly, Plagiocephaly, Pulmonary arterial hypertension, Thickened calvaria	ORPHA:2785
Saethre-Chotzen Syndrome	Short stature, Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Skull asymmetry, Lamb...	OMIM:101400
Congenital Myopathy 13	Short stature, Brachycephaly, Midface retrusion	OMIM:255995
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Brachycephaly	OMIM:616078
Peters Plus Syndrome	Frontal bossing, Short stature, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Brachyce...	ORPHA:709
Specc1L-Related Hypertelorism Syndrome	Umbilical hernia, Arrhythmia, Brachycephaly	ORPHA:1519
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Brachycephaly, Mitral regurgitation, Umbilical hernia	OMIM:601776
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Short stature, Brachycephaly	ORPHA:1974
Frank-Ter Haar Syndrome	Growth delay, Flat occiput, Brachycephaly	OMIM:249420
Turnpenny-Fry Syndrome	Aortic regurgitation, Frontal bossing, Brachycephaly, Plagiocephaly, Mild short stature, Intraute...	OMIM:618371
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Scaphocephaly, Brachycephaly, Posterior plagiocephaly, Dolichocephaly, Umbilical...	OMIM:620330
Doors Syndrome	Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Sirenomelia, Prominent occiput, Spina ...	ORPHA:79500
Coffin-Siris Syndrome 1	Frontal bossing, Short stature, Postnatal growth retardation, Brachycephaly, Plagiocephaly, Umbil...	OMIM:135900
Acrofrontofacionasal Dysostosis 1	Short stature, Brachycephaly	OMIM:201180
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Hydrocephalus, Brachycephaly, Growth delay, Delayed puberty, Pu...	ORPHA:2072
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Tricuspid regurgitation, Short stature, Postnatal growth retardation, Brachyceph...	OMIM:619127
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Roberts Syndrome	Postnatal growth retardation, Severe intrauterine growth retardation, Brachycephaly, Craniosynost...	ORPHA:3103
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly	ORPHA:521445
Distal Deletion 12Q	Growth delay, Frontal bossing, Short stature, Brachycephaly	ORPHA:96149
Kbg Syndrome	Short stature, Brachycephaly	OMIM:148050
X-Linked Intellectual Disability, Snyder Type	Short stature, Brachycephaly	ORPHA:3063
Common Variable Immunodeficiency	Vasculitis, Brachycephaly	ORPHA:1572
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Brachyturricephaly	OMIM:214100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Trigonocephaly, Short stature, Brachycephaly, Craniosynostosis	OMIM:309590
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Monosomy 9P	Trigonocephaly, Calvarial skull defect, Brachycephaly	ORPHA:261112
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Growth delay, Short stature, Brachycephaly	OMIM:619950
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Midface retrusion	OMIM:615273
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Brachycephaly	OMIM:263520
14Q22Q23 Microdeletion Syndrome	Short stature, Brachycephaly	ORPHA:264200
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Proportionate short stature	OMIM:227330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Right-to-left shunt, Neonatal death, Pulmonary arterial hypertension, Pulmonary in...	OMIM:265380
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short stature, Brachycephaly, Intrauterine growth retardation	OMIM:617157
X-Linked Intellectual Disability, Armfield Type	Short stature, Brachycephaly, Midface retrusion	ORPHA:85276
1P36 Deletion Syndrome	Frontal bossing, Short stature, Dilated cardiomyopathy, Brachycephaly, Telangiectasia, Midface re...	ORPHA:1606
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Intrauterine growth retardation, Pa...	OMIM:264090
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Frontal bossing, Turricephaly, Brachycephaly, Prominent occiput	OMIM:612474
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Frontal bossing, Hydrocephalus, Dilated cardiomyopathy, Brachycepha...	OMIM:607872
Chime Syndrome	Brachycephaly	ORPHA:3474
Roberts-Sc Phocomelia Syndrome	Craniosynostosis, Postnatal growth retardation, Hydrocephalus, Frontal encephalocele, Brachycepha...	OMIM:268300
Down Syndrome	Short stature, Brachycephaly	OMIM:190685
Turner Syndrome Due To Structural X Chromosome Anomalies	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99413
Turner Syndrome	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:881
Mosaic Monosomy X	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99228
Monosomy X	Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	ORPHA:99226
Cornelia De Lange Syndrome	Short stature, Brachycephaly, Severe postnatal growth retardation, Delayed puberty, Intrauterine ...	ORPHA:199
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Brachyturricephaly	ORPHA:522077
Viss Syndrome	Frontal bossing, Epidural hemorrhage, Short stature, Brachycephaly, Umbilical hernia, Dolichoceph...	OMIM:619472
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Brachycephaly	OMIM:610442
Renpenning Syndrome 1	Short stature, Brachycephaly	OMIM:309500
Elsahy-Waters Syndrome	Brachycephaly, Midface retrusion	OMIM:211380
Aspartylglucosaminuria	Mitral regurgitation, Thickened calvaria, Brachycephaly, Short stature	OMIM:208400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Frontal bossing, Portal hypertension, Brachycephaly, Ischemic stroke, Dolichocephaly	OMIM:619503
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Craniosynostosis, Brachycephaly, Hypertension, Midface retrusion	OMIM:201750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Coronal craniosynostosis, Brachytu...	ORPHA:83617
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Short stature, Brachycephaly, Delayed puberty	ORPHA:480880
Microphthalmia, Syndromic 6	Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion	OMIM:607932
Primrose Syndrome	Brachycephaly, Short stature, Midface retrusion, Delayed puberty	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)	Arntl2^{tm1a(KOMP)Wtsi}	27671790

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Arnt^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Arnt^em1(IMPC)H	Indel	Mice
Arnt^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Arnt^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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