Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Arntem1(IMPC)H HET Early adult 9.55×10-07
increased mean platelet volume Arntem1(IMPC)H HET Early adult 6.29×10-11
preweaning lethality, complete penetrance Arntem1(IMPC)H HOM   Early adult 0.00

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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
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