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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
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
abnormal retina vasculature morphology Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 1.67×10-08
abnormal retina blood vessel morphology Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 8.06×10-08
abnormal retina morphology Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 1.69×10-07
abnormal lens morphology Jmjd6tm1b(EUCOMM)Wtsi HET   Early adult 3.07×10-05
preweaning lethality, complete penetrance Jmjd6tm1b(EUCOMM)Wtsi HOM   Early adult 5.65×10-05
decreased mean platelet volume Jmjd6tm1b(EUCOMM)Wtsi HET Early adult 9.66×10-07
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

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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 Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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Electrocardiogram (ECG)

Waveform Image

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Immunophenotyping

Panel A FCS file(s)

6 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
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Death in childhood, Death in infancy, Ps... OMIM:243150
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... ORPHA:1354
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft ... ORPHA:1166
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Ad... OMIM:220210
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Pulmonary artery at... OMIM:601186
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Diabetic Embryopathy
Ureteral duplication, Frontal bossing, Ventricular septal defect, Cryptorchidism, Hydrocephalus, ... ORPHA:1926
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology OMIM:105805
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Midface retrusion, Ventricular septal defect, Abnormality of the dentit... OMIM:179613
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Median cleft lip, A... ORPHA:3378
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Right aortic a... OMIM:231060
Congenital Rubella Syndrome
Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, Anemia, Aplasia... ORPHA:290
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Adrenal hypoplasia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prol... OMIM:613177
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Short stature, Intestinal malrotation, Submucous c... ORPHA:3426
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal defect, Hypospadia... OMIM:618316
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Trisomy 1Q
Frontal bossing, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Camptodac... ORPHA:261344
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Short stature, Thoracic aortic aneurysm, Asplenia, Intes... OMIM:619657
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Narrow p... OMIM:617022
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Polyhydramnios, Leukopenia, Pulmonary artery atresia, Vesicoureteral reflux,... OMIM:301056
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... OMIM:617241
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... ORPHA:77298
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Pallor, Dys... OMIM:613561
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... OMIM:613759
Dextrocardia
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of the spleen, Hydrocep... ORPHA:1666
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Short stature, Ventricular septal defect, Megaloblastic anemia, Stroke, Pallor... ORPHA:49827
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro... OMIM:618845
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Myh9-Related Disease
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... ORPHA:182050
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous i... ORPHA:90308
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Palpebral edema, Dolichocephaly, Cryptorchidism, Cleft palate, Abnormal heart morph... OMIM:214110
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ... ORPHA:163596
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Colitis, Hypoplasia of the thymus, Hepatoblastoma, Atrial... ORPHA:84064
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hy... ORPHA:2470
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal lung lobation,... ORPHA:2538
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... ORPHA:244
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Acute Peripheral Arterial Occlusion
Leukocytosis, Stroke, Limb muscle weakness, Pallor ORPHA:90064
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the great art... OMIM:306955
22Q11.2 Deletion Syndrome
Impaired T cell function, Polyhydramnios, Anorectal anomaly, Abnormal lung lobation, Abnormal aor... ORPHA:567
Scimitar Syndrome
Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal... ORPHA:185
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... OMIM:615731
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... OMIM:615631
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Cryp... ORPHA:401935
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Aplasia... ORPHA:40366
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Hydrolethalus
Anophthalmia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencep... ORPHA:2189
Isolated Dandy-Walker Malformation
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia, Tetralogy of Fallot ORPHA:217
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Short stature, Abnormal pulmonary valve morpho... ORPHA:500
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Short stature, Thick lower lip vermilion, Ren... OMIM:612946
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Optic nerve hypoplasia, Decreased response to growth ho... OMIM:609053
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Endoca... ORPHA:60041
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, ... ORPHA:848
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Short stature, Decreased response to growth hormone st... OMIM:618223
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Pallor, Thrombocytopenia ORPHA:517
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... ORPHA:436252
Kallmann Syndrome-Heart Disease Syndrome
Short stature, Hypogonadotropic hypogonadism, Short lingual frenulum, Anomalous origin of left co... ORPHA:2326
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hypoplasi... ORPHA:231226
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... OMIM:270100
Holoprosencephaly
Hypoplasia of penis, Flat occiput, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of ... ORPHA:2162
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Dolichocephaly, Intrauterine growth retardation, Tetralogy... ORPHA:3303
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent respiratory infections, Ventricular septal defect, Sho... OMIM:620210
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Brachycephaly, Widely spaced teeth, High palate, Solitary medi... ORPHA:66625
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Pallor,... ORPHA:124
Beta-Thalassemia Major
Extramedullary hematopoiesis, Pallor, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate pr... ORPHA:231214
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short stature,... OMIM:618330
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... OMIM:600462
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft, Microphthalmia ORPHA:3434
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... ORPHA:1208
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Splenomegaly, Skin... ORPHA:507
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Postnatal growth retar... OMIM:206920
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenu... ORPHA:2919
Diamond-Blackfan Anemia 1
Reticulocytopenia, High palate, Pallor, Neutropenia, Atrial septal defect, Spina bifida occulta, ... OMIM:105650
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Hypospadias, Ventricular septal defect, Short stature, Pyloric stenosis, Patent ... OMIM:218350
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Short philtrum, Widely spaced teeth, Subvalvular aortic stenosis, Cleft lip, Pulmo... OMIM:280000
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
X-Linked Mandibulofacial Dysostosis
Short stature, Cryptorchidism, Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Ab... ORPHA:1131
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate... ORPHA:3304
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Cleft palate, Glossoptosis, At... ORPHA:1388
Down Syndrome
Redundant neck skin, Brachycephaly, Atrial septal defect, Atrioventricular canal defect, Hypothyr... OMIM:190685
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Patent du... OMIM:612561
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... ORPHA:2515
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
American Trypanosomiasis
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Splenomegaly, Lymphadenopathy, Card... ORPHA:3386
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Treacher-Collins Syndrome
Hypoplasia of penis, Brachycephaly, Glossoptosis, Hypoplasia of the thymus, High palate, Encephal... ORPHA:861
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
German Syndrome
Short stature, Camptodactyly of finger, Lymphedema, Cryptorchidism, Brachycephaly, Dysphagia, Oro... ORPHA:2077
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia OMIM:614326
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Patent ductus arteriosus, Scaphocephaly, Cranial asymmetry, Hydrocephalus, Growth ... OMIM:614886
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Widely spaced teeth, Dolichoc... OMIM:619717
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Fetal Trimethadione Syndrome
Ventricular septal defect, Hypospadias, Brachycephaly, High palate, Transposition of the great ar... ORPHA:1913
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Abnormal aortic mor... ORPHA:3405
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Polyhydramnios, Abnormality of the thyroid gland, Esophag... ORPHA:1923
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Gastrointestinal dysmotility, Pallor OMIM:500007
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Smooth philtrum, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular s... ORPHA:477817
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytos... ORPHA:3226
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect, Short stature ORPHA:391646
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Non-midline clef... ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Pancytopenia, Peau d'orange, Ventricular septal defect, Impaired T cell functio... OMIM:614576
Esophageal Atresia
Maternal diabetes, Polyhydramnios, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, G... ORPHA:1199
X-Linked Intellectual Disability, Nascimento Type
Deep philtrum, Downturned corners of mouth, Neutropenia, Vesicoureteral reflux, Micropenis, Paten... ORPHA:163956
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, High, narrow palate, Orofacial cleft, Abnormal tricuspid... ORPHA:7
Prune Belly Syndrome
Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dysplasia, Cryptorchidism, Patent... ORPHA:2970
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Cleft palate, Growth delay, Aplasia/Hypoplasia of t... ORPHA:1727
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Paten... OMIM:618494
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Solitary Median Maxillary Central Incisor
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Cleft upper l... OMIM:147250
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Bronchiectasis, Anemia, Leukopenia, High palate, Long p... OMIM:620184
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... ORPHA:411986
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... OMIM:612158
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage,... ORPHA:99931
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Flat occiput, Redundant neck skin, Polyhydramnios, Lymphedema, High palate, Protein-losing entero... OMIM:235255
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Recurrent respiratory infections, Eosinophilia, Megaloblas... ORPHA:90045
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Spasticity of facial muscles, Pallor, Dysphagia, Difficulty in tongue mov... OMIM:606353
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Exaggerated cupid's bow, Patent ductus arteriosus, Deep philtrum, High... ORPHA:261120
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... OMIM:605627
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Webbed neck, Hydranencephaly,... OMIM:601355
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atr... OMIM:214800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus... ORPHA:94066
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Microphthalmia, An... ORPHA:3469
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... ORPHA:2712
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... OMIM:612938
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr... OMIM:615297
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Ca... ORPHA:1909
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Cryptorchidism, Hydrocephalus, Submuc... ORPHA:899
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Renal insufficiency, Purpura, Abnormality of neut... ORPHA:33226
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Brachycephaly, High palate, Atrial septal defe... OMIM:615582
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect, Death in infancy OMIM:614876
Immunodeficiency 9
Death in infancy, Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, ... OMIM:612782
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Pagod Syndrome
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Short stature, Congenital diaphrag... ORPHA:991
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... ORPHA:2476
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ... OMIM:619472
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Hypospadias, Ventricular septal defect, Short... OMIM:206900
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... OMIM:605376
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Mosaic Trisomy 9
Hypoplasia of penis, Polyhydramnios, Asplenia, Abnormal lung lobation, Hydrops fetalis, High pala... ORPHA:99776
16P13.11 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Transposition of the great art... ORPHA:261243
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... OMIM:608978
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Thick vermilion border, Pulmonic stenosis, Long... ORPHA:251076
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos... OMIM:611590
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasia of the primary teeth,... ORPHA:90322
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... OMIM:301043
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Aplastic anemia, Optic disc hypoplasia, Hypergonadot... OMIM:300514
Cat Eye Syndrome
Vesicoureteral reflux, Atrial septal defect, Short stature, Patent ductus arteriosus, Total anoma... OMIM:115470
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... ORPHA:824
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Charge Syndrome
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Gastroesophageal reflux, Holoprosencephaly, Ve... ORPHA:138
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus... OMIM:249270
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Hypogonadism, Pallor, Poikilocytos... OMIM:615234
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Type I diabetes mellitus, Pallor, Hyperinsulinemic hypoglycemia, Excessive insu... ORPHA:276575
Wolcott-Rallison Syndrome
Renal insufficiency, Short stature, Neonatal insulin-dependent diabetes mellitus, Chronic kidney ... ORPHA:1667
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
King-Denborough Syndrome
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Bilateral c... OMIM:619542
Combined Oxidative Phosphorylation Deficiency 31
Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... OMIM:617228
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Short stature, Sagittal craniosynostosis, High palate, Broad alveolar ... OMIM:314320
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Brachycephaly, Mitral valv... ORPHA:371428
Lambert Syndrome
Ventricular septal defect, Hypospadias, Decreased circulating antibody level, Wide mouth, Branchi... ORPHA:1296
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Abnormal pleura morphology, Myocarditis, Recurrent... ORPHA:3099
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Type I diabetes mellitus, Pallor, Hyperinsulinemic hypoglyce... ORPHA:276580
Li-Campeau Syndrome
Ventricular septal defect, Short stature, Hypothyroidism, Patent ductus arteriosus, Gastrointesti... OMIM:619189
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... OMIM:616652
Microphthalmia, Syndromic 2
Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of... OMIM:300166
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Short stature, Impaired T cell function, Cryptorch... OMIM:192430
Chromosome 6Q24-Q25 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Dysplas... OMIM:612863
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Intrauter... OMIM:616276
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Hypochromic microcytic ane... ORPHA:54028
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... OMIM:618624
Distal Deletion 15Q
Flat occiput, Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal aortic arch morpho... ORPHA:1596
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Micr... OMIM:613730
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Ventricular... OMIM:612530
8Q12 Microduplication Syndrome
Ventricular septal defect, Brachycephaly, Vesicoureteral reflux, Gastroesophageal reflux, Everted... ORPHA:228399
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Redundant neck skin, Abnormall... OMIM:249420
Peripheral Cone Dystrophy
Pallor OMIM:609021
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Flat occiput, Ventricular septal defect, Dextrocardia, Congenital diaphragmati... OMIM:614294
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Redundant neck skin, Polyhydra... ORPHA:1655
Emanuel Syndrome
Dental crowding, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial se... OMIM:609029
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... ORPHA:139466
Vacterl With Hydrocephalus
Anophthalmia, Polyhydramnios, Spina bifida, Aqueductal stenosis, Esophageal atresia, Cryptorchidi... ORPHA:3412
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Short stature, Postnatal growth retardation, Multiple suture craniosyn... ORPHA:3369
Peters Plus Syndrome
Ureteral duplication, Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary... ORPHA:709
Congenital Heart Defects And Ectodermal Dysplasia
Frontal bossing, Premature loss of primary teeth, Brachycephaly, Widely spaced teeth, Thin skin, ... OMIM:617364
Tyshchenko Syndrome
Short stature, Ventricular septal defect, Supernumerary nipple, Polyhydramnios, High, narrow pala... OMIM:615102
Pelger-Huet Anomaly
Frontal bossing, Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils... OMIM:169400
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Sm... OMIM:614526
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Flat occiput, Short stature, Postnatal growth retardation, Cryptorchidi... OMIM:613792
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... ORPHA:231222
Emanuel Syndrome
Multiple joint contractures, Redundant neck skin, Dental crowding, Congenital diaphragmatic herni... ORPHA:96170
Diamond-Blackfan Anemia 7
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum... OMIM:612562
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse pancr... ORPHA:276556
Robinow Syndrome, Autosomal Dominant 2
Frontal bossing, Thin upper lip vermilion, Short stature, Cleft soft palate, Dental crowding, Abn... OMIM:616331
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, High, narrow palate, Crypto... ORPHA:1101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defec... OMIM:616651
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Cryptorchidism, Bilateral microphthalmos, Brachycephaly... ORPHA:369891
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Renal hypoplasia, C... ORPHA:85284
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... OMIM:210250
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Ureth... OMIM:314390
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Crypto... ORPHA:3306
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Atria... OMIM:617602
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Severe short stature, Facial palsy, Fac... ORPHA:2780
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Short statu... OMIM:301068
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... OMIM:618164
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Deep philtrum, H... OMIM:606003
Abetalipoproteinemia
Ataxia, Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Optic Atrophy 1
Pallor OMIM:165500
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Horseshoe kidney, Renal cyst, Cleft palate, L... OMIM:614815
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ... ORPHA:98870
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Hypospadias, Dental crowding, C... OMIM:219000
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Short stature, Hypergonadotropic hypogonadism, Ectopic k... OMIM:227645
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... ORPHA:329971
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent du... OMIM:618652
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Short stature, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, ... ORPHA:250999
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Rhizomelia, Ventricular septal defect, Downturned corners of m... ORPHA:93267
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Flexion contracture, Brachy... OMIM:616897
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse... OMIM:235510
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylg... OMIM:557000
8P23.1 Microdeletion Syndrome
Short stature, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteri... ORPHA:251071
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Bicuspid aortic valve, Short stature, Cleft soft palate, Abnormality of the dent... OMIM:618529
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... ORPHA:1335
Degcags Syndrome
Polyhydramnios, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficienc... OMIM:619488
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cry... ORPHA:404440
Even-Plus Syndrome
Severe short stature, Vesicoureteral reflux, Renal hypoplasia, Brachycephaly, High palate, Hypodo... OMIM:616854
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... ORPHA:272
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Abnormal palate... ORPHA:1381
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... OMIM:619980
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending ... OMIM:619503
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... OMIM:620183
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect,... OMIM:619227
Holoprosencephaly 14
Frontal bossing, Median cleft lip, Ventricular septal defect, Proboscis, Alobar holoprosencephaly... OMIM:619895
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Short stature, Intestinal malrotation, Velopharyngeal insufficiency, Su... OMIM:614701
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t... ORPHA:320406
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Frontal bossing, Thin upper lip vermilion, Bicuspid aortic valve... ORPHA:457279
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d... OMIM:619769
Fanconi Anemia, Complementation Group D2
Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Short s... OMIM:227646
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic a... ORPHA:2345
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Brachycephaly, Anteriorly placed anus, High pala... OMIM:619148
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Edema, Lymphedema, Skin ulcer, Pleural effusion, Thick vermil... ORPHA:2526
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Gastroesophageal reflux, Multicystic kid... ORPHA:2092
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Polyhydramnios, Brachycephaly, Nephrocalcinosis, Dow... ORPHA:79500
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary art... OMIM:611812
Giant Cell Arteritis
Glossitis, Renal insufficiency, Pericarditis, Diabetes insipidus, Abnormal pleura morphology, Med... ORPHA:397
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... OMIM:618506
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, E... ORPHA:974
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Short stature, Optic nerve h... OMIM:615583
Adams-Oliver Syndrome 6
Ventricular septal defect, Splenomegaly, Esophageal varix, Renal hypoplasia, Truncus arteriosus, ... OMIM:616589
Fraser Syndrome 2
Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplasia, Ureteral age... OMIM:617666
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short stature, Craniosynostosis, Intestinal ... ORPHA:457193
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... OMIM:616920
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Cerebrocostomandibular Syndrome
Polyhydramnios, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Ga... OMIM:117650
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Dental crowding, Polyhydramni... OMIM:300990
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreas... ORPHA:300298
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Decreased calvarial ossification,... ORPHA:2772
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary v... ORPHA:137634
Fumarase Deficiency
Frontal bossing, Necrotizing enterocolitis, Increased urine succinate level, Polyhydramnios, Elev... OMIM:606812
Cockayne Syndrome Type 1
Renal insufficiency, Anophthalmia, Foot joint contracture, Proteinuria, Delayed eruption of prima... ORPHA:90321
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch... ORPHA:2059
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Anophthalmia, Congenital diaphragma... ORPHA:2556
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Abnormality of the anterior ... ORPHA:75389
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis ORPHA:79087
Noonan Syndrome 8
Ventricular septal defect, Short stature, Polyhydramnios, Cryptorchidism, Patent ductus arteriosu... OMIM:615355
Filippi Syndrome
Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Thin vermilion border, S... OMIM:272440
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic kidney, Crypt... OMIM:600901
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Intracranial hemorrhage, Colitis, Pallor, N... ORPHA:3260
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Aganglionic megacolon ORPHA:895
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Short stature, Dental crowding, Pierre-Robin sequence, Anterior open-bi... OMIM:617877
Carpenter Syndrome 1
Brachycephaly, High palate, Atrial septal defect, Spina bifida occulta, Short stature, Sagittal c... OMIM:201000
Burn-Mckeown Syndrome
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cleft upper lip, Renal hypop... OMIM:608572
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Chorea, Exaggerated startle response, Dystonia ORPHA:309246
Fg Syndrome Type 1
Dental crowding, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal defect, Hypospa... ORPHA:93932
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Short stature, Polyhydr... OMIM:617360
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral refl... OMIM:616894
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Short stature, Craniosynostosis, Abnormality of the urethra, Brachycephaly, Cleft p... ORPHA:2145
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oligodontia, Hi... ORPHA:453499
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Edema, Pericardial effusion, Brachycephaly, Hepatosplenomegaly, Wide mouth, Abno... OMIM:608776
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate... ORPHA:435638
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... ORPHA:2257
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Microphthalmia, Leukemia, Smooth philtrum OMIM:602501
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... OMIM:252011
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Cryptorchidism, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted ... OMIM:616789
Orofaciodigital Syndrome V
Frontal bossing, Recurrent respiratory infections, Median cleft lip, Ventricular septal defect, A... OMIM:174300
Craniosynostosis 2
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... OMIM:604757
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic kidney, Crypt... OMIM:227650
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Leukoc... ORPHA:2331
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W... OMIM:617635
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal defect, Cryptorchi... OMIM:618950
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Dental crowding, Abnormal lung lobation, Orofacial cleft, Uret... ORPHA:2052
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Neonatal death, Patent foramen ovale,... OMIM:269860
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... OMIM:618067
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Short stature, Proteinuria, Minimal chang... OMIM:618348
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten... ORPHA:2306
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Intracranial hemorrhage, Increased circulating Ig... ORPHA:284227
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Myopathy, Increased variability in muscle fiber diamet... OMIM:616816
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like episode, Renal ... ORPHA:137675
Lessel-Kreienkamp Syndrome
Frontal bossing, Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Scaph... OMIM:619149
Eec Syndrome
Hypospadias, Short stature, Decreased response to growth hormone stimulation test, Abnormal denta... ORPHA:1896
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylglutaric aciduria, ... OMIM:246450
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short philtru... OMIM:601808
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short stature, C... OMIM:600987
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Splenomegaly... ORPHA:98849
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Ataxia, Optic atrophy, Increased mean platelet volume OMIM:616737
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Joubert Syndrome 15
Micropenis, Exencephaly, Nephronophthisis OMIM:614464
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Cryptorchidism, Brac... ORPHA:228390
Infection-Related Hemolytic Uremic Syndrome
Anuria, Edema, Intestinal perforation, Gastrointestinal infarctions, Pallor, Nephrotic range prot... ORPHA:544482
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Flexion contracture, Brachycephaly, Downturned corners of mouth, H... OMIM:264090
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:619314
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Natal tooth, Ventricular septal defect, Short stature, Proteinuria, Sagittal cr... OMIM:616901
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Sagitt... OMIM:618027
Desmosterolosis
Frontal bossing, Severe short stature, Intestinal malrotation, Splenomegaly, Patent ductus arteri... ORPHA:35107
Fibular Hemimelia
Anophthalmia, Craniosynostosis, Spina bifida, Abnormal heart morphology, Thrombocytopenia ORPHA:93323
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia ORPHA:276608
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... ORPHA:139471
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum ORPHA:398156
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... OMIM:600001
Coffin-Siris Syndrome 11
Frontal bossing, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, ... OMIM:618779
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal reflux, Short p... OMIM:300967
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... OMIM:600460
Sepsis In Premature Infants
Petechiae, Edema, Splenomegaly, Leukocytosis, Gastrointestinal dysmotility, Oliguria, Enterocolit... ORPHA:90051
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Chromosome 1P36 Deletion Syndrome, Proximal
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular cana... OMIM:619343
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Short stature, Abnormality of the philtrum, Non-midline cleft lip, Abn... ORPHA:1770
Trisomy 18
Congenital diaphragmatic hernia, Holoprosencephaly, Atrial septal defect, Short stature, Spina bi... ORPHA:3380
Mosaic Trisomy 1
Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic her... ORPHA:1692
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,... ORPHA:500159
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Polyh... OMIM:605275
Acrocardiofacial Syndrome
Death in infancy, Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosi... ORPHA:2008
Ataxia-Telangiectasia
Decreased circulating IgG level, Diabetes mellitus, Short stature, Female hypogonadism, Decreased... OMIM:208900
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Death in infancy, Aplasia/Hypoplasia of the tongue, Trigonoceph... ORPHA:1790
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Po... OMIM:300963
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
15Q14 Microdeletion Syndrome
Ventricular septal defect, Short stature, Abnormality of the dentition, Cleft palate, Short philt... ORPHA:261190
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... ORPHA:3097
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia ORPHA:1203
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Hyposp... ORPHA:1708
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spinal dysra... OMIM:617660
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Spina b... ORPHA:1393
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Cryp... OMIM:244300
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Lateral Meningocele Syndrome
Decreased muscle mass, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Shor... OMIM:130720
Bohring-Opitz Syndrome
Polyhydramnios, Flexion contracture, Gastroesophageal reflux, Vesicoureteral reflux, Atrial septa... OMIM:605039
Seckel Syndrome 9
Recurrent respiratory infections, Short stature, Ventricular septal defect, Congenital diaphragma... OMIM:616777
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Short stature, Trigonocephaly, Hypogonadotropic h... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... OMIM:617751
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus ... OMIM:601927
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Probo... ORPHA:141099
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal pulmonary valve morphology,... ORPHA:667
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Flat occiput, Abnormal testis morphology, Protruding to... ORPHA:96147
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia OMIM:613839
Opitz Gbbb Syndrome
Smooth philtrum, Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Hypospadia... OMIM:300000
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Frontal bossing, Short stature, Abnormal heart valve m... ORPHA:1340
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Chromosome 5Q12 Deletion Syndrome
Frontal bossing, Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosu... OMIM:615668
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Comp... OMIM:264480
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Rhizomelia, Ventricular septal defect, Short stature, Craniosynostosis, Dolichoc... OMIM:614114
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth ORPHA:83473
Costello Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Redundant skin, Abnormal dental enamel ... ORPHA:3071
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Antiphospholipid Syndrome, Familial
Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl... OMIM:107320
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... OMIM:608670
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submuc... ORPHA:2250
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Narrow m... ORPHA:1780
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Brachycephaly, Renal cyst... ORPHA:261494
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft up... OMIM:612582
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
De Barsy Syndrome
Decreased muscle mass, Brachycephaly, Prominent veins on trunk, High palate, Emphysema, Short sta... ORPHA:2962
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Short stature, Cryptorchidism,... OMIM:617452
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Vesicoureteral reflux, Cleft pa... OMIM:614749
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Severe short stature, Hypospadias, Precocio... ORPHA:2588
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft... ORPHA:563609
Kury-Isidor Syndrome
Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Brachycephaly, Growth del... OMIM:619762
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Optic nerve hypoplasia, Disproportionate short stature, Flexion contracture, Submucou... OMIM:222765
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Pallor, Poikilocytosis... OMIM:300908
Orofaciodigital Syndrome Xix
Frontal bossing, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow mouth, Narrow ... OMIM:620107
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Asce... ORPHA:141127
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Polyhydramn... OMIM:300998
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Severe short stature, Ventricular septal defect, Short ... OMIM:270450
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Cleft upper lip, Abnormality ... ORPHA:96167
Microphthalmia With Limb Anomalies
Frontal bossing, Death in infancy, Short stature, Macrodontia, Cleft upper lip, Venous insufficie... ORPHA:1106
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial sept... OMIM:615279
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernumerary nipple, C... ORPHA:217346
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Polyhydramnios, Downturned corners of mouth, Gastroesophageal reflux, Atrial sept... OMIM:620186
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Growth delay, Distal amyotrophy, High palate, Pallor, Increased v... OMIM:617675
Jansen-De Vries Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Pariet... OMIM:617450
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... OMIM:618021
Monosomy 18P
Short stature, Lymphedema, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mout... ORPHA:1598
Achondrogenesis, Type Ii
Frontal bossing, Edema, Abnormally large globe, Polyhydramnios, Disproportionate short-trunk shor... OMIM:200610
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Pulmonary carcinoid tumor, Intrac... ORPHA:363618
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum OMIM:620393
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Facial hypotonia, Short stature, Dispr... ORPHA:85194
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Congenital Tracheomalacia
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Esophag... ORPHA:95430
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Short stature, Cryptorchidism, Scaphocephaly, Cleft palate... OMIM:617164
Jacobsen Syndrome
Abnormality of the anus, Long philtrum, Death in infancy, Multicystic kidney dysplasia, Short sta... ORPHA:2308
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,... OMIM:614424
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent for... OMIM:617506
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemia, Pallor, Hyperinsulinem... ORPHA:324575
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Ventricular septal defect, Hypospadias, Postnatal growth retardation, Cryptorchi... ORPHA:494344
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior... OMIM:601357
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Op... OMIM:147800
Contractural Arachnodactyly, Congenital
Hip contracture, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Dolichocephal... OMIM:121050
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Eleva... ORPHA:94080
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu... ORPHA:79474
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... ORPHA:167635
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurr... OMIM:602450
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Turricephaly, Polyhydramnios, Type 1 muscle fiber atrophy, ... OMIM:619036
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Ogden Syndrome
Frontal bossing, Torticollis, Everted upper lip vermilion, Ventricular septal defect, Postnatal g... ORPHA:276432
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Frontal bossing, Ventricular septal defect, Short stature, Sagi... OMIM:609942
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Abnormal urinary color ORPHA:90037
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Flat occiput, Limb joint contracture, Ventricular septal defect, Short ... ORPHA:505237
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... ORPHA:284169
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Inc... OMIM:618504
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Thick lower ... OMIM:619103
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary ven... OMIM:617478
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Short stature, Hypospadias, Erythroid hypoplasia, R... OMIM:612528
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Congenital diaphragmatic hernia, Anteriorly placed anus, Olig... OMIM:305600
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothy... OMIM:601005
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Sagittal craniosynostosis, Trigonocephaly, Hydrocephalus, Scaphocephaly, Brachycep... ORPHA:459061
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... ORPHA:2328
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Frontal bossing, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidi... ORPHA:261250
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis, Trigonocephaly, Craniosynostosis, Cleft palate, Plagioc... OMIM:618265
Cooper-Jabs Syndrome
Frontal bossing, Short stature, Ventricular septal defect, Camptodactyly of finger, Congenital di... ORPHA:1488
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... OMIM:620113
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Filippi Syndrome
Frontal bossing, Severe short stature, Ventricular septal defect, Short stature, Supernumerary ni... ORPHA:3255
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... ORPHA:2876
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Atrial septal defect, Spin... OMIM:300373
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Edema, Leukocytosis, Dilated cardiomyopathy, Dehydration, Leukopenia, 3-Methylglutaric... ORPHA:20
3Q29 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft p... ORPHA:251038
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri... OMIM:194380
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Ganglioneuromatosis, El... ORPHA:653
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Short stature, Splenomegaly, Hydrocephalus, Chronic kidney disease, Or... OMIM:615630
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplas... ORPHA:264200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Noonan Syndrome 9
Hydroureter, Short stature, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulm... OMIM:616559
Trichohepatoenteric Syndrome 1
Frontal bossing, Villous atrophy, Ventricular septal defect, Short stature, Increased mean platel... OMIM:222470
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Agang... ORPHA:2473
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Frontal bossing, Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, ... ORPHA:2256
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Mor... OMIM:613309
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Bra... ORPHA:254346
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Intrauterine growth retardation, Bifid uvula, Abnormal penis... ORPHA:2461
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Fanconi Anemia
Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, Sh... ORPHA:84
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo... OMIM:239300
Teebi Hypertelorism Syndrome 1
Frontal bossing, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Short stature,... OMIM:145420
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola... OMIM:258900
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormality of the philtrum, Polyhydramnios, Spina bifida, Flexion contr... ORPHA:2671
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... ORPHA:1507
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature, Cleft upper lip, Cleft palate, High palate OMIM:609654
Teebi-Shaltout Syndrome
Turricephaly, Ureteral stenosis, Ventricular septal defect, Short stature, Prominent palatine rid... OMIM:272950
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Recurrent respiratory infections, Severe short stature, V... ORPHA:3047
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Nephropathy, Oligohy... OMIM:208085
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Short stature, Craniosynostosis, Bilateral cryptorchid... ORPHA:314575
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Gastroesophageal... OMIM:611961
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Rena... OMIM:229850
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thrombocytopenia OMIM:246400
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Short stature, Polyhydramnios, Cryptorchidism, D... OMIM:610733
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsor... ORPHA:452
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Short stature, Brachycephaly, Dextrotransposition of the great arterie... OMIM:619995
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Pulmonary artery atresia, Atrial septal defect, Patent f... OMIM:212093
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arterios... OMIM:616564
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Redundant skin, Hypoplasia of the abdominal wall musculature, High, narrow... OMIM:612289
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Abnormally large globe, Hydr... OMIM:603387
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... OMIM:220500
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Short stature, Maternal diabetes, Panhypopituita... ORPHA:280200
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Apert Syndrome
Brachycephaly, Bifid uvula, Overriding aorta, Sagittal craniosynostosis, Esophageal atresia, Cryp... OMIM:101200
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Flexio... ORPHA:261537
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Frontal bossing, Thin upper lip vermilion, Hydroureter, Ventricular septal defect, Short stature,... OMIM:610759
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Alagille Syndrome
Frontal bossing, Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Brachyceph... ORPHA:52
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Vesicoureteral reflux, Atrial septal def... OMIM:610443
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Cardiofaciocutaneous Syndrome 1
Short stature, Polyhydramnios, Abnormality of the dentition, Open bite, Splenomegaly, Deep philtr... OMIM:115150
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... OMIM:618974
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery sten... ORPHA:85202
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Widely-spaced maxillary central incisors, Gastroesophageal reflux, Micropenis, Hypospadias, Diast... OMIM:301040
Gm1 Gangliosidosis
Frontal bossing, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of fi... ORPHA:354
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid... ORPHA:329224
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Enamel ... OMIM:619229
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Organic aciduria, Limb hypertonia ORPHA:99742
Cree Mental Retardation Syndrome
Hypospadias, Cleft soft palate, Cryptorchidism, Brachycephaly, Webbed neck OMIM:606851
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, High palate, Vesicoureteral reflux, Atrial septal defect, Patent... ORPHA:2745
Kagami-Ogata Syndrome
Frontal bossing, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent... OMIM:608149
Char Syndrome
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... ORPHA:46627
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorch... OMIM:257300
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Renal cyst, Pulmonary hypopla... OMIM:615636
Grange Syndrome
Ventricular septal defect ORPHA:79094
Zellweger Syndrome
Death in infancy, Multicystic kidney dysplasia, Flat occiput, Hypospadias, Ventricular septal def... ORPHA:912
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Sagittal craniosy... OMIM:615879
Baller-Gerold Syndrome
Frontal bossing, Short stature, Malabsorption, Abnormality of the ureter, Brachycephaly, Cleft pa... ORPHA:1225
Jacobsen Syndrome
U-Shaped upper lip vermilion, Recurrent respiratory infections, Flat occiput, Ventricular septal ... OMIM:147791
Okamoto Syndrome
Redundant neck skin, Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Pr... ORPHA:2729
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Flexio... ORPHA:261552
Zttk Syndrome
Unilateral lung agenesis, Flexion contracture, Downturned corners of mouth, High palate, Short ph... OMIM:617140
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Precocious puberty, Cleft palate, Growth de... ORPHA:447980
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Short stature, Camptodactyly of finger, Cryptorchidism, Submucous cleft ha... OMIM:114300
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Recurrent respiratory infections, Natal tooth, Hypospadias, Protrud... OMIM:610253
Dubowitz Syndrome
Abnormality of neutrophils, Rectal prolapse, High palate, Spina bifida occulta, Hypoparathyroidis... ORPHA:235
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, V... OMIM:274000
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Erythema, Brachyc... ORPHA:99812
Lambotte Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect, Narrow m... OMIM:245552
Intellectual Developmental Disorder, Autosomal Dominant 58
Facial hypotonia, Short stature, Dental crowding, Protruding tongue, Submucous cleft hard palate,... OMIM:618106
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Short stature, Eosinophilia, Supernumerary ni... OMIM:308300
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Radio-Tartaglia Syndrome
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Precocious... OMIM:619312
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Renal cyst, Stillbirth, Atrial septal defect OMIM:263630
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Frontal bossing, Scapular winging, Ventricular septal defect, Short stature, Patent ductus arteri... OMIM:618870
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Leukocytosis, F... OMIM:619321
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Pa... ORPHA:90033
Brachycephaly, Trichomegaly, And Developmental Delay
Flat occiput, Short stature, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ve... OMIM:617412
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, Neonatal death... OMIM:619167
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia ORPHA:99772
Rabson-Mendenhall Syndrome
Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, Atrial septal defect, A... ORPHA:769
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Horseshoe kidney, Cleft palate, Tongue nodules, Glossop... OMIM:311900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Camptodactyly, A... OMIM:301039
Lathosterolosis
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... OMIM:607330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:352665
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Anteriorly placed anus, Short stature, Hypospadias,... OMIM:305450
Ververi-Brady Syndrome
Thin upper lip vermilion, Short stature, Wide mouth, High palate, Transposition of the great arte... OMIM:617982
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Trigonocephaly, High, narrow pa... OMIM:158170
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Abnormality of the dentition, Precocious puberty, Thick lower lip ver... ORPHA:261652
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Epispadias, Conical incisor, Microdontia, Atrial septal defect, ... ORPHA:289
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia, Abnormality of the pulmonary artery ORPHA:1065
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Autoimmune t... ORPHA:1572
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:617798
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofa... OMIM:309800
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Facial palsy, Supernumerary nipple, Cleft upper lip, Postnatal growth ... OMIM:113620
Lymphedema-Distichiasis Syndrome
Diabetes mellitus, Proteinuria, Predominantly lower limb lymphedema, Cleft upper lip, Patent duct... ORPHA:33001
Meier-Gorlin Syndrome 7
Urethral stricture, Anteriorly placed anus, Copper beaten skull, High palate, Vesicoureteral refl... OMIM:617063
Warsaw Breakage Syndrome
Ventricular septal defect, Postnatal growth retardation, Wide mouth, High palate, Intrauterine gr... OMIM:613398
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Hypo... OMIM:309801
3Mc Syndrome 1
Ventricular septal defect, Diastasis recti, Supernumerary nipple, Dental crowding, Postnatal grow... OMIM:257920
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ... ORPHA:2969
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Cleft pa... OMIM:616449
Chime Syndrome
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... ORPHA:3474
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Brachycephaly, Renal cyst, ... OMIM:122470
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly, Brachycephaly, High palate, Long philt... OMIM:618798
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ... OMIM:619910
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... ORPHA:268261
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion contracture, ... OMIM:613870
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Cholelithiasis, Pericardial effusion, Normochromic anemia, Intrauterin... OMIM:618775
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Bra... OMIM:245600
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Short stature, Vesicoureteral reflux, Cleft palate, Atrial septal defe... OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Patent du... OMIM:617061
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of mouth, Gastroesophageal ... OMIM:619950
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft uppe... OMIM:100300
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Polyhydramnios, Compl... OMIM:236680
Senior-Loken Syndrome 8
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Pallor, Nephronophth... OMIM:616307
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Polyhydramnios,... OMIM:164280
Sweeney-Cox Syndrome
Flat occiput, Polyhydramnios, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Velop... OMIM:617746
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... OMIM:613001
Restrictive Dermopathy 1
Ureteral duplication, Adrenal hypoplasia, Polyhydramnios, Flexion contracture, Scaling skin, Atri... OMIM:275210
Hajdu-Cheney Syndrome
Downturned corners of mouth, Periodontitis, Long philtrum, Short stature, Hypospadias, Open bite,... ORPHA:955
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Vesicouretera... ORPHA:209905
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Pallor ORPHA:90036
Restrictive Dermopathy
Ureteral duplication, Multiple joint contractures, Polyhydramnios, Scaling skin, Atrial septal de... ORPHA:1662
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, H... OMIM:164210
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Absent gallbladder, Natal tooth, Hamartoma of tongue, Esophageal diverticulum, C... OMIM:617925
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B ly... OMIM:102700
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Prominent occiput, Cont... ORPHA:96123
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... OMIM:178600
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Unilateral renal agenesis, Carious teeth, Patent ductus arteriosus, Ve... OMIM:613680
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Short stature, Ventricular septal defect, Hypospadi... ORPHA:163979
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Submucous cleft hard palate, Prominent occiput, Unilatera... OMIM:619122
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Short stature, Trigonocephaly, Esophageal atresia, Deep philtrum, Clef... OMIM:610536
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Encephalocele, Flat occiput, Hypospadias, Epispadias, Brachycephaly, E... ORPHA:2211
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Rhizomelia, Short stature, Knee flexion contracture ORPHA:166016
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Cryptorchidism, Submucou... ORPHA:178303
C Syndrome
Ventricular septal defect, Short stature, Accessory oral frenulum, Cryptorchidism, Patent ductus ... OMIM:211750
Chops Syndrome
Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, High, narrow pa... OMIM:616368
Robinow Syndrome
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi... ORPHA:97360
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism, ... OMIM:607932
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Dental cro... ORPHA:79329
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Facial hypotonia, Exaggerated cupid's bow, Oral-pharyn... ORPHA:2131
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Postnatal ... ORPHA:96191
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Frontal bossing, Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crow... OMIM:309520
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu... OMIM:300855
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Dravet Syndrome
Pallor ORPHA:33069
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Retinitis Pigmentosa 51
Pallor OMIM:613464
Thoracoabdominal Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arteriosus, Hydrocep... OMIM:313850
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:276621
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Holoprosencephaly, Parietal bossing, Median cleft palate,... OMIM:610828
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atria... OMIM:613610
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Cleft soft palate, Polyhydramnios, Patent ductus arteriosus, Aortic rupt... OMIM:614557
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Short stature, Exag... ORPHA:261236
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, ... ORPHA:2143
Neu-Laxova Syndrome 1
Polyhydramnios, Swollen lip, Neonatal death, Patent foramen ovale, Spina bifida, Cleft upper lip,... OMIM:256520
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Flexion contracture, Abnormal medullary pyramid morphology, Gastroesop... ORPHA:79243
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Brachycephaly, Hydrops fetalis, Right ventricular dilata... ORPHA:79328
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... OMIM:619909
Weill-Marchesani Syndrome 2
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... OMIM:608328
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Raine Syndrome
Brachycephaly, High palate, Microdontia, Neonatal death, Death in infancy, Short stature, Gingiva... OMIM:259775
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Yunis-Varon Syndrome
Redundant neck skin, Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, High, narr... ORPHA:3472
Cohen Syndrome
Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormal... ORPHA:193
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Prominent occiput, Pulmonary hypoplasia, Dolichocephaly, Midface retru... OMIM:617895
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:29072
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Short stature, Cardiomeg... OMIM:614921
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Frontal bossing, Flat occiput, Ventricular septal defect, Dental crowding, Abnormality of upper l... ORPHA:251028
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis ORPHA:134
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... ORPHA:2753
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Supernumerary nipple, Selective tooth agenesis, Conical t... OMIM:106260
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Craniosynostosis, Abnormality of the e... ORPHA:166035
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Short stature, Hypogonadotropic hypogonadism, Esophageal atresia, Pulm... OMIM:301030
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, Brachycephaly, High palate, Parietal bossing, Spin... OMIM:234100
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... OMIM:126320
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, High, narrow palate, Abnormal lung lobation, Brachycephaly, Renal cys... ORPHA:369837
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Gas... ORPHA:818
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, Long philtrum, Microphthalmia OMIM:615877
Branchioskeletogenital Syndrome
Brachycephaly, Anteriorly placed anus, Downturned corners of mouth, Short philtrum, Premature los... ORPHA:1299
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrop... OMIM:613404
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperpla... ORPHA:263455
Stickler Syndrome, Type I
Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Mitral valve prolapse, Midface ... OMIM:108300
Woods Syndrome
Thin vermilion border, Ventricular septal defect, Supernumerary nipple OMIM:615236
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Malabsorption, Hypothyro... ORPHA:83471
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Ventricular septal defect, Hypospadias, Adrenal hypoplasia, Protruding tongue, Redu... OMIM:214100
Native American Myopathy
Skeletal muscle atrophy, Short stature, Submucous cleft soft palate, Cryptorchidism, Abnormality ... ORPHA:168572
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Crypt... OMIM:613884
Faciocardiorenal Syndrome
Narrow mouth, Cleft palate, Horseshoe kidney, Plagiocephaly, Hypodontia, Tricuspid valve prolapse... ORPHA:1973
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Dubowitz Syndrome
Delayed eruption of teeth, Aplastic anemia, Short stature, Hypospadias, Postnatal growth retardat... OMIM:223370
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia OMIM:248450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retardation, Large p... ORPHA:254534
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Gastroe... OMIM:618268
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia OMIM:603585
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Short stature, Hypospadias, Cleft soft palate, Cryptorchidism, ... ORPHA:2282
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Thin upper lip vermilion, Branchial fistula, Ventricular septal... ORPHA:261330
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, High, narrow palate, Crypt... ORPHA:2789
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Trache... ORPHA:268249
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Aplasia/Hypoplasia of t... ORPHA:1425
Distal Duplication 5Q
Hypospadias, Ventricular septal defect, Craniosynostosis, Dextrocardia, Short stature, Cryptorchi... ORPHA:96097
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... ORPHA:1344
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea... OMIM:263520
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... ORPHA:91347
Sandhoff Disease
Exaggerated startle response, Ataxia, Impaired temperature sensation, Hepatosplenomegaly, Cherry ... OMIM:268800
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... ORPHA:3455
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,... ORPHA:247691
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossop... ORPHA:3201
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Gastro... ORPHA:2152
Renpenning Syndrome 1
Brachycephaly, High palate, Short philtrum, Death in childhood, Atrial septal defect, Short statu... OMIM:309500
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Proportionate short stature, Unilateral... OMIM:613457
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arter... OMIM:617516
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Gastrointestinal dysmotility, Downturned corners of mouth, Gastroesopha... ORPHA:500150
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft lip, Cleft palate, Pulmonic stenosis, ... OMIM:619123
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia OMIM:253800
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Leukocytosis, Growth delay, ... OMIM:615673
Weill-Marchesani Syndrome 1
Short stature, Ventricular septal defect, Proportionate short stature, Broad skull, Patent ductus... OMIM:277600
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Thin upper lip vermilion, Optic disc hypoplasia, Ventricular septal defect, Exa... OMIM:619306
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Unilateral alveolar cleft of m... ORPHA:2751
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Short stature, Hypospadias, Flexion contracture, Submucous cleft hard palate, Generalized limb mu... OMIM:618891
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Exaggerated cupid's bow, High... ORPHA:464738
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short stature, Intestinal malrotation, Diast... OMIM:244450
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Optic atrophy, Increased mean platelet volume ORPHA:487796
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Craniosynostosis, Carious teeth, High, na... ORPHA:33364
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Renal insufficiency, Purpura, Proteinuria, Glomerulone... ORPHA:93126
Donnai-Barrow Syndrome
Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Intestinal malrotation, ... OMIM:222448
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature, Bilateral cryptorchidism, Patent ductus arteriosus, Rec... OMIM:300472
Duane-Radial Ray Syndrome
Anal stenosis, Ventricular septal defect, Facial palsy, Aganglionic megacolon, Optic disc hypopla... OMIM:607323
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... OMIM:618619
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Cleft soft palate, Polyhydramnios, Disproportionate short-trunk short statu... ORPHA:93316
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Brachycephaly, Orofacial cleft, Hi... OMIM:607872
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Marfan Syndrome
Skeletal muscle atrophy, Dental crowding, High, narrow palate, Increased axial length of the glob... ORPHA:558
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Optic nerve hypoplasia, Exaggerated startle response OMIM:617864
Toriello-Carey Syndrome
Short stature, Aganglionic megacolon, Postnatal growth retardation, Cryptorchidism, Patent ductus... ORPHA:3338
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... ORPHA:99095
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Patent du... OMIM:616975
Sotos Syndrome
Frontal bossing, Ventricular septal defect, High, narrow palate, Muscular ventricular septal defe... OMIM:117550
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol... OMIM:154500
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, Facial palsy, Redundant skin, Abnor... ORPHA:2658
Distal 22Q11.2 Microduplication Syndrome
Smooth philtrum, Frontal bossing, Branchial fistula, Ventricular septal defect, Camptodactyly of ... ORPHA:261337
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Short stature, Macrodontia, Protruding tongue, Postnatal growth retard... OMIM:212066
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Brachycephaly, High palate, Short philtr... ORPHA:96121
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Myhre Syndrome
Short philtrum, Atrial septal defect, Short stature, Pericardial effusion, Cryptorchidism, Patent... OMIM:139210
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate,... OMIM:602535
Holoprosencephaly 2
Median cleft lip and palate, Proboscis, Adrenal hypoplasia, Alobar holoprosencephaly, Submucous c... OMIM:157170
Stuve-Wiedemann Syndrome 1
Frontal bossing, Death in infancy, Pursed lips, Short stature, Carious teeth, Elbow flexion contr... OMIM:601559
Distal Deletion 3P
Short stature, Cryptorchidism, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin ver... ORPHA:1620
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Ventricular septal defect, Short stature, Congenital diaphragmatic hern... OMIM:618454
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Limb-Mammary Syndrome
Absent nipple, Psoriasiform dermatitis, Cleft hard palate, Cleft lip, Cleft palate, Bilateral bre... ORPHA:69085
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short statu... OMIM:300712
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Hydrocephalus, Peripheral pulmonary v... OMIM:273395
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature, Duodenal atresia ORPHA:3004
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Conical tooth, Brachycephaly, High palate, Short... OMIM:135900
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Dysphagia ORPHA:13
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, High, narrow pala... OMIM:180849
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor... ORPHA:980
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Proportionate short stature, Abnor... ORPHA:488618
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Hepa... ORPHA:1465
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, High,... ORPHA:373
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Alzahrani-Kuwahara Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Coronary sinus enlargement, Hypospadia... OMIM:619268
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Submucous cleft hard palate, Enuresis nocturna, Plagioceph... OMIM:619680
Codas Syndrome
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Ventricular septal defect, Ab... ORPHA:1458
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Lymphedema, High, narrow palate, High palate, Atrial septal def... OMIM:163950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Short stature, Craniosynostosis, E... OMIM:178110
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Foot jo... ORPHA:444072
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Meester-Loeys Syndrome
Frontal bossing, Aortic dissection, Short stature, Dolichocephaly, Gingival overgrowth, Mitral va... OMIM:300989
Arboleda-Tham Syndrome
Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners of mouth, Gastroesoph... OMIM:616268
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity, Eosinophilic infiltration of the es... OMIM:609192
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology... ORPHA:904
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Short stature, Bifid uvula OMIM:601492
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Brachycephaly, Vesicoureteral reflux, Micropenis, Patent for... ORPHA:96149
Whim Syndrome
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... ORPHA:51636
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Brachycephaly, Knee flexion contracture, High pala... OMIM:614976
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Short stature, Pyloric s... ORPHA:3138
Kabuki Syndrome 1
Premature thelarche, High palate, Atrial septal defect, Micropenis, Recurrent aspiration pneumoni... OMIM:147920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Brachycephaly, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepatos... ORPHA:2072
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga... ORPHA:466791
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Trigonocephaly, Short stature, Cryptorchidism... ORPHA:251014
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Atrial septa... OMIM:312870
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Abnormal lung lobation, ... ORPHA:508488
Smith-Lemli-Opitz Syndrome
Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Gastroesophage... OMIM:270400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, High palate ORPHA:52055
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Torticollis, Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledoch... OMIM:619480
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... OMIM:606232
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Holoprosence... ORPHA:672
Campomelic Dysplasia
Irregular dentition, Polyhydramnios, High palate, Neonatal short-limb short stature, Hypospadias,... OMIM:114290
Brachydactyly, Type B1
Ventricular septal defect, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint ... OMIM:113000
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Postnatal growth reta... OMIM:616145
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Short stature, Hypospadias, Pulmonary arter... OMIM:235730
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Diabetes mellitus, Short stature, Abnormal dental enamel morphology, Cle... OMIM:601701
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Arthro... OMIM:614961
Larsen Syndrome
Frontal bossing, Ventricular septal defect, Short stature, Cleft upper lip, Cryptorchidism, Cleft... OMIM:150250
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... ORPHA:2519
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Congenital... OMIM:301044
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Optic disc hypoplasia, Proportionate... ORPHA:79345
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Pol... ORPHA:464311
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Short philtrum, Smooth p... ORPHA:293725
Cdags Syndrome
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina... OMIM:603116
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contractu... ORPHA:96334
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Ventricular septal defect, Hypospadias, Palpebral edema, Splenomegaly, Cryptorc... OMIM:614866
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Polyhydram... OMIM:620025
Meier-Gorlin Syndrome 5
Short stature, Cryptorchidism, Submucous cleft hard palate, Birth length less than 3rd percentile... OMIM:613805
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Tolchin-Le Caignec Syndrome
Diastasis recti, Precocious puberty, Scaphocephaly, Oxycephaly, Submucous cleft hard palate, Card... OMIM:618971
Osteopetrosis With Renal Tubular Acidosis
Brachycephaly, Leukopenia, High palate, Short stature, Persistence of primary teeth, Secondary hy... ORPHA:2785
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Renal cyst, Knee flexion contracture, Gastroesophageal reflux, Short philtru... OMIM:210710
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... OMIM:243800
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Polyhydramnios, Hydrocephalus, Renal corticomedul... OMIM:219730
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Recurrent upper respiratory tract infections, Severe postnatal growth ... ORPHA:3078
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... ORPHA:2369
Schilbach-Rott Syndrome
Short stature, Hypospadias, Submucous cleft hard palate, Narrow mouth, Bifid uvula OMIM:164220
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... OMIM:175050
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Orofacial cleft, Downturned corners of mouth, Gastroesophageal reflux, Sho... OMIM:194190
Mosaic Trisomy 20
Ventricular septal defect, Cryptorchidism, Cleft lip, Dysplastic tricuspid valve, Horseshoe kidne... ORPHA:1724
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Short stature, Polyhydramnios, Broad skull,... OMIM:600373
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Supernumerary ... OMIM:619194
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Dysmetria, Hepatosplenomegaly, Dystonia, Che... ORPHA:845
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Brachycephaly, High palate, Widely spaced teeth, Microdontia, Atrial septa... OMIM:612474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular se... ORPHA:508498
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, Craniosynostosis... ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Precocious puberty, Cryptorchidism, Brachycephaly, Micropenis OMIM:620073
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Cataract OMIM:620327
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Unilateral renal agenesis, Precocious puberty, Ebstein anomaly of the tri... OMIM:608980
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cryptorchidism, Patent ductu... OMIM:620024
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Ventricular septal defect, Short stature, Hypospadias, Unilateral re... ORPHA:464306
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal diabetes, Rectal fistula... ORPHA:49
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Distal Deletion 19P
Ventricular septal defect, Cleft palate, Decreased circulating antibody level, Short philtrum, Tr... ORPHA:96129
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Diets-Jongmans Syndrome
Thin upper lip vermilion, Hypospadias, Short stature, Ventricular septal defect, Congenital diaph... OMIM:618846
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sex... OMIM:194050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Muscular dystr... OMIM:253280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal s... OMIM:619534
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Abnorma... ORPHA:369929
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Po... OMIM:192350
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short stature OMIM:609166
Chromosome 16P13.3 Duplication Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Ventricular septal defect... OMIM:613458
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Baller-Gerold Syndrome
Brachycephaly, Anteriorly placed anus, High palate, Spina bifida occulta, Bifid uvula, Short stat... OMIM:218600
Cleft Soft Palate
Cleft soft palate OMIM:119570
Acrofacial Dysostosis 1, Nager Type
Short stature, Ventricular septal defect, Unilateral renal agenesis, Congenital diaphragmatic her... OMIM:154400
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Polyhydramnios, Dolichocephaly,... ORPHA:459070
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Dysphagia, Gastr... ORPHA:506
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Brachycephaly, Knee flexion contracture, High palate, Atrial septal defect, Wrist... OMIM:268300
Gm2-Gangliosidosis, Ab Variant
Chorea, Exaggerated startle response, Dystonia OMIM:272750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Frontal bossing, Ventricular septal defect, Short stature, Craniosynostosis, Renal cyst, Horsesho... OMIM:250410
Renal Agenesis
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... ORPHA:411709
Coffin-Siris Syndrome 12
Frontal bossing, Short stature, Facial palsy, Hypospadias, Celiac disease, Cryptorchidism, Veloph... OMIM:619325
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... OMIM:619991
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Vesicoureteral reflux, Atrial se... ORPHA:353281
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Flexion contracture, Erythema, Growth delay, High palate, Gastroesopha... OMIM:614653
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pneumonia, Pericardial effusion, Dila... ORPHA:26793
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Ventricular septal defect, Trigonocephaly, Hamartoma of ton... OMIM:615948
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Brachycephal... ORPHA:1519
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Pedal edema,... OMIM:617107
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... OMIM:612292
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Mitral valve calcification, Short stature, Elevated hemoglobin A1c, Proteinuria,... OMIM:619127
Costello Syndrome
Renal insufficiency, Redundant neck skin, Ventricular septal defect, Short stature, Rhabdomyosarc... OMIM:218040
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Abnormality of dental color, Short stature, Precocious puberty, Cranial asymme... OMIM:163200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Flexion contracture, Increased axi... OMIM:154700
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Pallor ORPHA:348
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly, Lymphadenopa... OMIM:619418
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Short stature, Intestinal malrotation, Cryptorchidism, Pa... OMIM:102500
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Short stature, Dysphagia OMIM:618325
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen... ORPHA:500095
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Diastasi... ORPHA:488632
Hyperlysinemia
Short stature, Craniosynostosis, Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery h... ORPHA:2203
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... OMIM:615474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Short stature, Hypospadias, Decreased respon... ORPHA:444077
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... OMIM:619575
X-Linked Intellectual Disability, Armfield Type
Short stature, Cryptorchidism, Patent ductus arteriosus, Brachycephaly, Cleft palate, Downturned ... ORPHA:85276
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Anteriorly pl... OMIM:261540
Childhood Absence Epilepsy
Pallor, Urinary incontinence ORPHA:64280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
X Small Rings
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Growth delay, Aortic ... ORPHA:96201
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Oculodentodigital Dysplasia
Neurogenic bladder, Median cleft lip, Ventricular septal defect, Camptodactyly of finger, Abnorma... ORPHA:2710
Retinitis Pigmentosa 75
Pallor OMIM:617023
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Redundant skin, Bronchiectasis, Cutis laxa, Long philtrum, Emphysema, ... OMIM:123700
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Brachycephaly, Downturned corners of mouth,... ORPHA:199
Proteus Syndrome
Decreased muscle mass, Lymphedema, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Ab... ORPHA:744
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Ventricular septal defect, Aplastic anemia OMIM:610832
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Miscarriage, Deep philtrum, Pulmonary artery hyp... OMIM:245150
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios, Short stature, Pulmonary hypoplasia OMIM:615503
Cutis Laxa, Autosomal Recessive, Type Ib
Dermal translucency, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Cutis laxa,... OMIM:614437
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Ves... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Ves... ORPHA:353277
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Hand-Foot-Genital Syndrome
Ventricular septal defect, Hypospadias, Miscarriage, Abnormality of the urethra, Vesicoureteral r... ORPHA:2438
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Short stature, Ventricular septal defect, Polyhydramnios, Cryptorchidism, High palate, Pulmonic s... OMIM:607721
Neuroocular Syndrome
Hypoplasia of the fovea, Scapular winging, Short stature, Short uvula, Submucous cleft hard palat... OMIM:619539
Eisenmenger Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic ... ORPHA:97214
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism... ORPHA:434179
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H... OMIM:233450
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Alagille Syndrome 1
Frontal bossing, Ventricular septal defect, Multiple small medullary renal cysts, Vesicoureteral ... OMIM:118450
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cerebellofaciodental Syndrome
Ventricular septal defect, Short stature, Cryptorchidism, Dental malocclusion, Mitral valve prola... OMIM:616202
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureter... ORPHA:438213
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Oligodontia, Short philtrum, Thick vermilion bo... OMIM:609460
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD4-positive help... ORPHA:221139
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Intestinal malrotatio... OMIM:616682
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Sca... OMIM:620330
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Omodysplasia 1
Frontal bossing, Rhizomelia, Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis... OMIM:258315
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... ORPHA:513456
Saethre-Chotzen Syndrome
Short stature, Parietal foramina, Oxycephaly, Brachycephaly, Narrow palate, Abnormal heart morpho... OMIM:101400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... OMIM:187300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, High, narrow palate, High palate, Short philtrum, Micropenis, Hypospadias,... OMIM:619475
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Micro... OMIM:619525
Yunis-Varon Syndrome
Flat occiput, Redundant neck skin, Polyhydramnios, Hydrops fetalis, Abnormal calvaria morphology,... OMIM:216340
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Short stature, Dental cro... OMIM:614188
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Femoral-Facial Syndrome
Thin upper lip vermilion, Short stature, Ventricular septal defect, Maternal diabetes, Cryptorchi... OMIM:134780
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Pallister-Killian Syndrome
Edema of the dorsum of feet, Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhyd... OMIM:601803
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Muscular ventricular s... OMIM:157800
Townes-Brocks Syndrome 1
Gastroesophageal reflux, Holoprosencephaly, Vesicoureteral reflux, Atrial septal defect, Hypothyr... OMIM:107480
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Left atrial enlargement, Right ventricular dilatation, Peripher... ORPHA:99106
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Sotos Syndrome
Ureteral duplication, No permanent dentition, Flexion contracture, Pedal edema, Gastroesophageal ... ORPHA:821
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Clef... OMIM:271640
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Hydroureter, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Pro... ORPHA:2636
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal... OMIM:619522
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... ORPHA:363700
Arthrogryposis, Distal, Type 4
Torticollis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Camptoda... OMIM:609128
Osteogenesis Imperfecta, Type Vii
Death in infancy, Rhizomelia, Short stature, Hypoplastic pulmonary veins, Absent pulmonary artery... OMIM:610682
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Ventricu... OMIM:606170
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... OMIM:600145
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Craniotubular Dysplasia, Ikegawa Type
Thick upper lip vermilion, Ventricular septal defect, Short stature, Thick lower lip vermilion, D... OMIM:619727
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Mitral stenosis, Ventricular septal defect, T... OMIM:143095
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... OMIM:600376
Ulnar-Mammary Syndrome
Anal stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypopla... OMIM:181450
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Facial wrinkling, Narro... OMIM:606721
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Umbilical hernia, Micro... ORPHA:1934
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... ORPHA:391665
Unilateral Polymicrogyria
Pseudobulbar paralysis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... OMIM:619381
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Ventricular septal defect, Short stature OMIM:259770
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Jmjd6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Jmjd6.

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

Title Journal IMPC Allele PubMed ID
Thymic epithelial cell-specific deletion of Jmjd6 reduces Aire protein expression and exacerbates disease development in a mouse model of autoimmune diabetes. Biochemical and biophysical research communications (May 2017) Jmjd6tm1a(EUCOMM)Wtsi 28546003

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Jmjd6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Jmjd6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Jmjd6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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