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Gene: Jmjd6 MGI:1858910

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Gene Summary

Name:
jumonji domain containing 6
Synonyms:
PSR,  5730436I23Rik,  PtdSerR,  Ptdsr

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina blood vessel morphology Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 2.32×10-08
abnormal retina morphology Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 1.68×10-07
abnormal lens morphology Jmjd6tm1b(EUCOMM)Wtsi HET   Early adult 1.18×10-05
preweaning lethality, complete penetrance Jmjd6tm1b(EUCOMM)Wtsi HOM   Early adult 5.65×10-05
abnormal retina vasculature morphology Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 3.91×10-09
increased total body fat amount Jmjd6tm1a(EUCOMM)Wtsi HET Early adult 3.87×10-05
preweaning lethality, complete penetrance Jmjd6tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
increased NK cell number Jmjd6tm1a(EUCOMM)Wtsi HET Early adult 1.42×10-06
increased startle reflex Jmjd6tm1b(EUCOMM)Wtsi HET   Early adult 3.26×10-05
abnormal motor coordination/balance Jmjd6tm1b(EUCOMM)Wtsi HET   Early adult 4.91×10-05
decreased mean platelet volume Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 9.38×10-07

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Electrocardiogram (ECG)

Waveform Image

20 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Jmjd6 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 Jmjd6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Anophthalmia, V... OMIM:615524
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... OMIM:243150
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh... ORPHA:1354
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Abnormal lower lip morphology, Congenital diaphragmatic hern... ORPHA:1166
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Anophthalmia, Ventricular septal defect, Neonatal death, Cryptor... OMIM:601186
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormal lung lobation, Abnorma... ORPHA:3378
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Congenital Rubella Syndrome
Type I diabetes mellitus, Intrauterine growth retardation, Splenomegaly, Abnormality of the pulmo... ORPHA:290
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Renal cyst, Double outlet right ve... OMIM:231060
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Microphthalmia, Pericardia... OMIM:613885
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Periorbital edema, Rectal prolapse, Gastroesophageal reflux, Multiple bladder... OMIM:613177
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Gastroesophageal reflux, Long philtrum, Recurrent respirator... OMIM:618316
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Trisomy 1Q
Multicystic kidney dysplasia, Camptodactyly of finger, Increased nuchal translucency, Narrow mout... ORPHA:261344
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Long philtrum, Intrauterine growth retardation, O... OMIM:617022
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Death in childhood, Ventricular septal defect, Pulmonary artery atresia, Lef... OMIM:613759
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Anophthalmia, Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, ... ORPHA:77298
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Hypospadias, Intrauterine growth retardation, Leukopenia, Polyhydramnios, Cryptorchid... OMIM:301056
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocyt... ORPHA:49827
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor, Ragged-red muscle fibers, Dysphagia, G... OMIM:613561
Dextrocardia
Webbed neck, Meckel diverticulum, Pancreatic hypoplasia, Abnormal lung lobation, Intestinal malro... ORPHA:1666
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Anomalous origin of left coronary artery from ... OMIM:618845
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Anophthalmia, Perineal fist... ORPHA:2538
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly OMIM:611638
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Abnormal heart morphology, Intrauterine growth reta... OMIM:214110
Myh9-Related Disease
Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, I... ORPHA:182050
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Intestinal malrotation, Abnormal heart morphology, Abnormal ... ORPHA:244
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Intrauterine growth reta... ORPHA:2470
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Microcytic anemia, Ascites, Abnorm... ORPHA:90308
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Pallor, Splenomegaly, Abnormal hemoglobin, Polyhydramnios, Hydrocephalus, Anemia... ORPHA:163596
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d... OMIM:616188
Syndromic Diarrhea
Lymphopenia, Dry skin, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Atrial s... ORPHA:84064
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... OMIM:619657
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Acute Peripheral Arterial Occlusion
Stroke, Leukocytosis, Limb muscle weakness, Pallor ORPHA:90064
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Myopathy, Neutropenia, Recurrent low... OMIM:612541
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Mic... ORPHA:567
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Ventri... OMIM:612946
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Aniso... OMIM:615631
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Noonan Syndrome With Multiple Lentigines
Webbed neck, Hypospadias, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterin... ORPHA:500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm... OMIM:619313
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Cry... ORPHA:2189
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Polyhydramnios, High palate, Arthrogryposis multiplex... OMIM:615731
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Plagiocephaly, Frontal bossing, Ventricular septal defect, Thin upper lip vermilion,... OMIM:618330
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Median cleft palate, Conotruncal defect, Hypoplasia of the thymus,... ORPHA:40366
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Prominent occiput, Encephalocele, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
German Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Lymphedema, Open mouth, Cryptorchidism, Orofacial c... ORPHA:2077
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Decreased response to growth hormone stimulation t... OMIM:609053
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Ventricular sep... ORPHA:401935
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Splenomegaly,... ORPHA:848
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Cerebrooculonasal Syndrome
Tessier cleft, Hypoplasia of penis, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia... ORPHA:66625
Congenital Heart Block
Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Pleural effusion, Patent for... ORPHA:60041
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Congenital pulmonary airway malformation, Jejunoileal ulceration, Intes... ORPHA:436252
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Tetralogy Of Fallot
Tetralogy of Fallot, Intrauterine growth retardation, Cryptorchidism, Thin vermilion border, Doli... ORPHA:3303
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Narrow mouth, Brachycephaly, Microphthalmia, Short stature, High palate, Growth delay ORPHA:2528
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Ventricular... OMIM:253300
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231226
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... ORPHA:1208
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Holoprosencephaly
Abnormality of the spleen, Anophthalmia, Congenital diaphragmatic hernia, Ventricular septal defe... ORPHA:2162
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Frontal bossing, Horseshoe kidney, Cryptorchidism, Ventricular septal defect,... OMIM:218350
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Webbed neck, Cleft lip, Decreased response to growth hormone stimulat... OMIM:618223
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg... OMIM:620210
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Generalized limb muscle atrophy, Microcytic anemia, Sideroblastic anemia, Pap... OMIM:600462
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231214
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Leishmaniasis
Abnormal oral mucosa morphology, Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abno... ORPHA:507
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Microphthalmia ORPHA:3434
Microphthalmia With Limb Anomalies
Camptodactyly of 2nd-5th fingers, Cleft upper lip, Frontal bossing, Postnatal growth retardation,... OMIM:206920
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... ORPHA:124
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Ventricular septal defect, Small thenar eminence, Neutropenia, Atria... OMIM:105650
Non-Distal Duplication 10Q
Cryptorchidism, Brachycephaly, Everted lower lip vermilion, Short stature, High palate, Frontal b... ORPHA:1695
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Recurrent aphthous stomatitis, Decreased circulatin... OMIM:612782
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Tetralogy of Fallot, Crossed fused renal ec... ORPHA:2919
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Cryptorchidism, Abnormality of the pulmonary artery, Abnormal mit... ORPHA:1131
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Short philtr... ORPHA:94066
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Pallor, Splenomegaly, Aganglionic megacolon, Achalasia, Lympha... ORPHA:3386
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Thin upper lip vermilion, Persistent left superior vena cava... ORPHA:3304
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Atrial septal defect... OMIM:190685
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Dry skin, Open mouth, Ventricular septal defect, Everted lower lip... OMIM:280000
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, T... ORPHA:1913
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Cleft upper lip, Persist... OMIM:612561
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper... ORPHA:1104
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... ORPHA:2515
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Short st... ORPHA:1388
Chromosome 3Pter-P25 Deletion Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Atrioventricular canal defec... OMIM:613792
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Congenital Heart Defects And Ectodermal Dysplasia
Widely spaced teeth, Atrioventricular canal defect, Dry skin, Premature loss of primary teeth, Mi... OMIM:617364
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Scaphocephaly, Renal tubular dysfunction, Double outlet right ventricle, Atrial s... OMIM:614886
Treacher-Collins Syndrome
Open bite, Narrow mouth, Cryptorchidism, Encephalocele, Microphthalmia, High palate, Rectovaginal... ORPHA:861
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ... OMIM:265380
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Bresek Syndrome
Renal hypoplasia, Plagiocephaly, Decreased testicular size, Intrauterine growth retardation, Vesi... ORPHA:85284
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia, Ventricular septal defect OMIM:614326
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Intellectual Developmental Disorder, Autosomal Recessive 73
Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Dolicho... OMIM:619717
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... ORPHA:2970
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Cyclic Vomiting Syndrome
Cardiomyopathy, Growth delay, Gastrointestinal dysmotility, Pallor OMIM:500007
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Pallor, Intr... ORPHA:3226
Esophageal Atresia
Esophagitis, Abnormal gastrointestinal tract morphology, Ventricular septal defect, Dysphagia, Du... ORPHA:1199
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Polyhydramnios, Ventricular sept... ORPHA:3405
8Q12 Microduplication Syndrome
Gastroesophageal reflux, Long philtrum, Narrow mouth, Vesicoureteral reflux, Ventricular septal d... ORPHA:228399
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weakness, Patent fo... ORPHA:477817
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Dysp... OMIM:618494
Methimazole Embryofetopathy
Intrauterine growth retardation, Calvarial skull defect, Abnormality of the thyroid gland, Abnorm... ORPHA:1923
Feingold Syndrome Type 2
Short stature, Ventricular septal defect, Jejunal atresia ORPHA:391646
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s... OMIM:614576
3C Syndrome
Aortic valve stenosis, Postnatal growth retardation, Abnormal mitral valve morphology, Ventricula... ORPHA:7
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Hereditary Folate Malabsorption
Gastroesophageal reflux, Skeletal muscle atrophy, Recurrent respiratory infections, Pancytopenia,... ORPHA:90045
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Cornelia De Lange Syndrome 2
Gastroesophageal reflux, Downturned corners of mouth, Hypertrophic cardiomyopathy, Postnatal grow... OMIM:300590
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Plagiocephaly, Camptodactyly of finger, Intrauterine ... ORPHA:272
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border, Shor... ORPHA:411986
Atelis Syndrome 1
Carious teeth, Long philtrum, Dry skin, Leukopenia, Ventricular septal defect, Hypothyroidism, At... OMIM:620184
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Prominent median palatal ... OMIM:147250
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Postnatal growth retardatio... OMIM:605627
Walker-Warburg Syndrome
Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ... ORPHA:899
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Increased circulating IgE level, Tortuous cerebral a... OMIM:619472
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Renal cyst, Atrial sep... OMIM:611134
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Peripheral pulmonary artery stenosis, Delayed er... ORPHA:2712
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han... ORPHA:536516
Charge Syndrome
Lymphopenia, Postnatal growth retardation, Unilateral microphthalmos, Anophthalmia, Cryptorchidis... OMIM:214800
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Webbed neck, Hydranencephaly, Truncus arteriosus, Ventricular septal d... OMIM:601355
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, E... ORPHA:261120
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dext... ORPHA:99776
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Skull asymmetry, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth ... OMIM:612938
Immunodeficiency 42
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Plagiocephaly, Skeletal muscle atrophy, Upper limb muscle weakness, Lo... ORPHA:1143
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Xk Aprosencephaly Syndrome
Narrow mouth, Ventricular septal defect, Atrial septal defect, Microphthalmia, Polyhydramnios, An... ORPHA:3469
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Abnormal pulmonary valve morphology, Thin upper lip ver... ORPHA:137634
Digeorge Syndrome
Ovarian cyst, Ventricular septal defect, High palate, Patent ductus arteriosus, High, narrow pala... OMIM:188400
Adams-Oliver Syndrome 4
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ... OMIM:615297
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Oligohydramnios, Renal insufficiency, ... ORPHA:1909
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Abnormal lung lobation, Intrauterine growth retardation, Abnorm... ORPHA:2516
Maternal Phenylketonuria
Hypoplastic left heart, Long philtrum, Abnormal heart morphology, Tetralogy of Fallot, Intrauteri... ORPHA:2209
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Intrauterine growth retardation, Crossed fused renal ectopia, Ventricu... OMIM:618142
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... ORPHA:991
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Non-m... ORPHA:2476
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy, Ventricular septal defect OMIM:614876
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Cryptorchidism,... OMIM:206900
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Unilateral cleft lip, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth reta... OMIM:616897
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Plagiocephaly, Downturned corners of mouth, Bilateral microphth... ORPHA:369891
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th... ORPHA:90322
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Peripheral pulmonary artery stenosis, Downturned corners of mouth, Tetralogy of Fall... ORPHA:163956
X-Linked Sideroblastic Anemia
Anemia, Pallor, Splenomegaly ORPHA:75563
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Irregular dentition, Cryptorchidism, Encephalocele, Small thenar eminence, Microphtha... OMIM:619148
Potocki-Shaffer Syndrome
Downturned corners of mouth, Parietal foramina, Brachycephaly, Hypothyroidism, Delayed puberty, M... ORPHA:52022
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Intestinal malrotation, Atriove... OMIM:605376
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, Reticulocytosis, Iso... OMIM:611590
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Pallor, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, De... OMIM:615234
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Dolichocephaly, Coarctation of aorta, Transpositi... ORPHA:261243
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Decreased muscle mass, Cleft soft palate, Ventricular septal defect, Eosino... OMIM:615582
Cat Eye Syndrome
Ventricular septal defect, Atrial septal defect, Rectal atresia, Microphthalmia, Anal atresia, Pa... OMIM:115470
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue... ORPHA:564
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Death in infancy, Lymphedema, Ascites, Pancreatic lymphangiectasis, S... OMIM:235255
Even-Plus Syndrome
Severe short stature, Renal hypoplasia, Oligohydramnios, Vesicoureteral reflux, Patent foramen ov... OMIM:616854
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
8P23.1 Duplication Syndrome
Long philtrum, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septal defect, Hydronephro... ORPHA:251076
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus tota... OMIM:249270
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Abnormality of the urethra, Intrauterine growth retardation, Oligohydramnios, Turric... ORPHA:2145
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Abnormal heart m... ORPHA:404440
Fanconi Anemia, Complementation Group B
Aplastic anemia, Optic disc hypoplasia, Abnormal lung lobation, Hypogonadism, Intrauterine growth... OMIM:300514
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Frontal bossing, Intrauterine growth ... OMIM:612863
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Alobar holoprosencephaly, Semilobar holoprosence... OMIM:301043
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Tetralogy of Fallot, Hypogonadism, Cryptorchidism,... ORPHA:3306
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Microphthalmia, Syndromic 2
Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Contractur... OMIM:300166
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Rheumatic Fever
Erythema, Abnormal heart valve morphology, Abnormal pleura morphology, Pallor, Abnormal aortic va... ORPHA:3099
Pierpont Syndrome
Widely spaced teeth, Excessive wrinkling of palmar skin, Cryptorchidism, Thin upper lip vermilion... ORPHA:487825
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Ventricular septal defect, Microphthalmia, Ecto... OMIM:613730
Fg Syndrome Type 1
Facial wrinkling, Open mouth, Cryptorchidism, Mitral valve prolapse, Progressive flexion contract... ORPHA:93932
Li-Campeau Syndrome
Long philtrum, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Gastrointestinal ... OMIM:619189
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B... ORPHA:371428
Gómez-López-Hernández Syndrome
Turricephaly, Brachycephaly, Hydrocephalus, Short stature, Thin vermilion border ORPHA:1532
Distal Deletion 15Q
Multicystic kidney dysplasia, Postnatal growth retardation, Congenital diaphragmatic hernia, Cryp... ORPHA:1596
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Elliptocytosis, Atten... OMIM:616959
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the musculature, Plagiocephaly, Long philtrum, Camptodactyly o... ORPHA:1101
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Asc... ORPHA:1667
Charge Syndrome
Postnatal growth retardation, Narrow mouth, Anophthalmia, Cryptorchidism, Micropenis, Microphthal... ORPHA:138
Peters Plus Syndrome
Multicystic kidney dysplasia, Postnatal growth retardation, Cryptorchidism, Anal atresia, Hypospa... ORPHA:709
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect, Microphthalmia, Fac... OMIM:614526
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Pulmo... OMIM:208530
Lessel-Kreienkamp Syndrome
Gastroesophageal reflux, Dental malocclusion, Plagiocephaly, Scaphocephaly, Open mouth, Patent fo... OMIM:619149
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Cryptorchidism, Tracheoesophageal fistula, Esophag... ORPHA:3412
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Trigonocephaly, Ventricular septal defect, Sagittal craniosynostosis... OMIM:314320
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Widely spaced teeth, Supernumerary nipple, Trigonocephaly, Thick vermilion borde... OMIM:612530
Emanuel Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Cryptorchidism, Delayed eruption of prima... OMIM:609029
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Lambert Syndrome
Intrauterine growth retardation, Wide mouth, Branchial anomaly, Ventricular septal defect, Decrea... ORPHA:1296
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Plummer-Vinson Syndrome
Narrow mouth, Pallor, Intra-oral hyperpigmentation, Iron deficiency anemia, Esophageal web, Hypoc... ORPHA:54028
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... OMIM:617021
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone st... OMIM:618624
Pierpont Syndrome
Widely spaced teeth, Prominent median palatal raphe, Cryptorchidism, Smooth philtrum, Brachycepha... OMIM:602342
Peripheral Cone Dystrophy
Pallor OMIM:609021
Waldenström Macroglobulinemia
Normocytic anemia, Gingival bleeding, Monoclonal immunoglobulin M proteinemia, Periorbital edema,... ORPHA:33226
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Oligohydramnios, Congenital d... ORPHA:139466
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... ORPHA:906
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Frank-Ter Haar Syndrome
Abnormally large globe, Dental malocclusion, Secundum atrial septal defect, Wide mouth, Gingival ... OMIM:249420
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Smooth ... OMIM:616652
Chromosome 15Q25 Deletion Syndrome
Webbed neck, Polysplenia, Cleft upper lip, Coronary artery fistula, Intrauterine growth retardati... OMIM:614294
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Intrauterine growth retardation, Polyhy... OMIM:615102
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Congenital diaphragmatic hernia, Cryptorchidism, Ventri... ORPHA:96170
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Plagiocephaly, Downturned corners of mouth, Intestinal malrotation, Cryp... ORPHA:457193
Pelger-Huet Anomaly
Abnormality of the dentition, Giant platelets, Umbilical hernia, Gingival overgrowth, Median clef... OMIM:169400
Adenylosuccinate Lyase Deficiency
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Flat occiput ORPHA:46
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Multiple suture craniosynostosis, Broad secondary alveolar ridge, Postnatal growth retardation, T... ORPHA:3369
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Increased mean corpuscular volume, Secundum atrial septal defect, Tetr... OMIM:612562
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Hypogonadism, Intrauterine... ORPHA:228390
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor, Dysphagia, Pseudobulbar paralysis OMIM:606353
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Umbilical hernia, Intrauterine growth retardation, Cryptorchidism,... OMIM:600325
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom... ORPHA:331206
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ... ORPHA:276556
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Webbed neck, Bilateral cryptorchid... OMIM:619542
Hardikar Syndrome
Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral cleft palate, Ventricular septal ... OMIM:301068
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Frontal bossin... OMIM:616331
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Beta-Thalassemia Intermedia
Cholelithiasis, Proximal tubulopathy, Skin ulcer, Extramedullary hematopoiesis, Persistence of he... ORPHA:231222
Roifman Syndrome
Recurrent pneumonia, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, In... OMIM:616651
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular... OMIM:617602
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Gastroesophageal reflux, Skeletal muscle atrophy, Postnatal growth retardation, Intrauterine grow... OMIM:615419
Coffin-Siris Syndrome 6
High, narrow palate, Gastroesophageal reflux, Plagiocephaly, Deep philtrum, Atrial septal defect,... OMIM:617808
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Persistent left superior vena cava... OMIM:314390
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Pentasomy X
Plagiocephaly, Camptodactyly of finger, Delayed puberty, Abnormal cardiac septum morphology, Shor... ORPHA:11
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Bifid uvula, High, narrow palate, Aortic valve stenosis, Delayed eruption o... ORPHA:2780
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pa... ORPHA:98870
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Congenital diaphragmatic hernia, Submucous cleft hard palate, Cryptorchidism, Hy... ORPHA:250999
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Umbilical hernia, Mitral... OMIM:618164
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Redundant neck skin, Ventricular septal de... OMIM:618652
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Ascites, Postnatal growth retardation, Hepato... ORPHA:1655
Degcags Syndrome
Chronic kidney disease, Oral-pharyngeal dysphagia, Hepatosplenomegaly, Pancytopenia, Protruding t... OMIM:619488
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Frontal bossing, Open mouth, Cryptorchidism, Patent foramen ovale, Brachycephaly, ... OMIM:616789
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Leukopenia... ORPHA:974
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... ORPHA:363705
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Gastroesophageal reflux, Plagiocephaly, Downturned corners of mouth, Thick upper lip vermilion, I... OMIM:617360
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Open mouth, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defec... ORPHA:453499
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Intrauterine growth retardation, Mic... OMIM:227645
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Ventricular septal de... OMIM:614815
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Micropenis, Microphthalmia, Short stat... OMIM:610125
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Patent foramen o... OMIM:606003
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial se... OMIM:235510
Fraser Syndrome 1
Tessier cleft, Renal hypoplasia, Dental crowding, Dental malocclusion, Cleft upper lip, Bilateral... OMIM:219000
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypospadias, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Intrauteri... ORPHA:251071
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Gastroesophageal reflux, Skeletal muscle atrophy, Plagiocephaly, Recurrent res... OMIM:618603
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Cryptorchidism, Abnormal palate morphology, Aplasia/Hypoplasia of the lens, ... ORPHA:1381
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
3P25.3 Microdeletion Syndrome
High, narrow palate, Skeletal muscle atrophy, Downturned corners of mouth, Knee flexion contractu... ORPHA:435638
Abetalipoproteinemia
Ataxia, Acanthocytosis, Retinopathy, Retinal degeneration OMIM:200100
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital... ORPHA:1335
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Intrauterine growth retardation, Cleft soft palate, Increased nuch... OMIM:620183
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Downturned corners of mouth, Ventricular septal defect, Microphthalmia, Short philtru... ORPHA:93267
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Unilateral renal agenesis, Plagiocephaly, Muscular ventricular septal defect, Submuc... OMIM:619227
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Focal Dermal Hypoplasia
Erythema, Multicystic kidney dysplasia, Open bite, Congenital diaphragmatic hernia, Ventricular s... ORPHA:2092
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Peripheral pulmonary artery stenosis, Plagiocephaly, Tented upper lip vermilion, V... OMIM:614749
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Dry skin, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Cryptorchidism, Hip cont... OMIM:619503
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Open mouth, Cryp... ORPHA:500159
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:301310
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Intestinal... OMIM:614701
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Atrial septal defect, Short philtrum, Widel... OMIM:608227
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Brachycephaly... OMIM:309545
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Cryptorchidism, Ventricular septal de... OMIM:201000
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response, Impaired vibration sensation in t... ORPHA:320406
Cornelia De Lange Syndrome 5
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Hypogon... OMIM:300882
Monosomy 18P
Tooth malposition, Webbed neck, Carious teeth, Downturned corners of mouth, Lymphedema, Hypodonti... ORPHA:1598
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Frontal bossing, Ascites, Villous atrophy, Splenomegaly, Brachycephaly, Atrial sep... OMIM:608776
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Umbilical hernia, Intrauterine growth retardation, Narrow mou... OMIM:615834
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteriorly placed anus, Ventricular septal defect, Aortic valve pro... OMIM:619980
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Edema, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal... ORPHA:329971
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Alobar holoprosencephaly, Decreased testicular size, Cryptorchidism, Brachycephaly... OMIM:615433
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Anemic pallor, Micropenis, Neutropenia, Microphthalmia, Leukemia, E... OMIM:227646
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Dental crowding, Gastroesophag... OMIM:619769
Filippi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Serrated incisors, Abnormal dental... OMIM:272440
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Achondrogenesis, Type Ii
Abnormally large globe, Disproportionate short-limb short stature, Edema, Long philtrum, Brachyce... OMIM:200610
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Chylothorax, Skin ulcer, Long philtrum, Lymphedema, Dry skin, Pleural effus... ORPHA:2526
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Skeletal muscle atrophy, Increased nuchal translucency, Polyhydramnios, Thin upper... OMIM:618862
Giant Cell Arteritis
Vasculitis, Skin ulcer, Double outlet right ventricle with subpulmonary ventricular septal defect... ORPHA:397
Doors Syndrome
Aspiration pneumonia, Short lingual frenulum, Open mouth, Adrenal hyperplasia, High palate, Gastr... ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Plagiocephaly, Umbilical hernia, Intrauterine growth retardation, Open mouth... OMIM:617751
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Polycythemia, Ascites, Pallor, Perimembranous v... OMIM:606812
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Ventricular septal defect, Ectopic anus, Spina bifi... ORPHA:2345
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Narrow mouth, Death in infancy, Br... ORPHA:1790
Adams-Oliver Syndrome 6
Renal hypoplasia, Calvarial skull defect, Splenomegaly, Truncus arteriosus, Ventricular septal de... OMIM:616589
Holoprosencephaly 14
Cleft lip, Alobar holoprosencephaly, Proboscis, Ventricular septal defect, Median cleft upper lip... OMIM:619895
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra... OMIM:604757
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Intestinal malrotation, Ureteral agenesis, Oligohydr... OMIM:617666
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Long philtrum, Supernumerary nipple, Abnormal heart morphology, Submucous cleft ha... ORPHA:457279
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dental crowding, Brachycephaly, Hypomimic face, Short stature, Recurrent respiratory infections ORPHA:320385
Cockayne Syndrome Type 1
Abnormality of the dentition, Male hypogonadism, Foot joint contracture, Widely spaced primary te... ORPHA:90321
Fryns Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Cryptorchidism, Microphthalmia, An... ORPHA:2059
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Disproportionate short-limb short stature, Intrauterine growth retardatio... ORPHA:2772
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral l... OMIM:611812
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Long philtrum, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Thin u... OMIM:617452
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Congenital diaphragmatic hernia, Cryptorchidism, Micropenis, Atria... ORPHA:363528
Verheij Syndrome
Renal hypoplasia, Branchial cyst, Long philtrum, Intrauterine growth retardation, Ventricular sep... OMIM:615583
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Cleft upper lip, Brachycephaly, Dysplastic pulmonary valve, Clef... OMIM:300958
Pearson Marrow-Pancreas Syndrome
Erythema, Sideroblastic anemia, Pancytopenia, Death in childhood, Neutropenia, 3-Methylglutaric a... OMIM:557000
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Trigonocephaly, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal ... OMIM:618506
Down Syndrome
Narrow mouth, Open mouth, Acute megakaryocytic leukemia, Protruding tongue, Ventricular septal de... ORPHA:870
Acquired Partial Lipodystrophy
Lymphocytosis, Lipoatrophy ORPHA:79087
Clark-Baraitser Syndrome
Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Thin upper lip vermilion, Sh... OMIM:617752
2Q32Q33 Microdeletion Syndrome
Dental crowding, Long philtrum, Decreased testicular size, Narrow mouth, Oligodontia, Brachycepha... ORPHA:251019
Kleefstra Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Micropeni... ORPHA:261494
Noonan Syndrome 8
Webbed neck, Hypertrophic cardiomyopathy, Pleural effusion, Polyhydramnios, Cryptorchidism, Ventr... OMIM:615355
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Fanconi Anemia, Complementation Group E