Gene Summary

Name:
brain-specific angiogenesis inhibitor 1-associated protein 2
Synonyms:
IRSp53

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Baiap2tm1b(KOMP)Wtsi HET Early adult 0.00
thrombocytopenia Baiap2tm1b(KOMP)Wtsi HET Early adult 1.57×10-05
preweaning lethality, incomplete penetrance Baiap2tm1b(KOMP)Wtsi HOM   Early adult 0.00
edema Baiap2tm1b(KOMP)Wtsi HOM E15.5 0.00
small testis Baiap2tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 5)
Oral cavity N/A homozygote Ambiguous
Chorioallantoic placenta N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skeleton N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

80 Images

Embryo LacZ

LacZ images wholemount

24 Images

Human diseases caused by Baiap2 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 Baiap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Lipedema
Edema OMIM:614103
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 2
Lymphedema OMIM:611944
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Angioedema, Hereditary, 5
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619361
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Angioedema, Hereditary, 8
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619367
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets, Abnormality of the endocrine system OMIM:608404
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Short stature, Intrauterine growth retardatio... ORPHA:1937
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Atrial septal defect, Clinodactyly of the 3rd toe, Intrauterine growth retardation,... ORPHA:521308
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Sandal gap, S... ORPHA:2515
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Shor... OMIM:615297
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Chilblain Lupus 2
Edema OMIM:614415
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Fetal Minoxidil Syndrome
Generalized hirsutism, Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Sonoda Syndrome
High axial triradius, Short stature, Ventricular septal defect OMIM:270460
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Short stature, Ventricular septal hype... OMIM:614947
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia OMIM:601815
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Short sta... ORPHA:391646
Catel-Manzke Syndrome
Highly arched eyebrow, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, ... ORPHA:1388
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Disproportionate short stature, Abnormal mitral valve morphology, Abnormal ... ORPHA:1354
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:249670
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Lymphatic Malformation 3
Lymphedema OMIM:613480
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Cranioacrofacial Syndrome
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect OMIM:122850
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Filippi Syndrome
Cutaneous syndactyly, Sparse hair, Ventricular septal defect, Finger clinodactyly, Postnatal grow... OMIM:272440
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
White Sponge Nevus 2
Edema OMIM:615785
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect, Growth delay, Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Sho... ORPHA:52056
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Wt Limb-Blood Syndrome
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Anemia, Macrothrombocytopenia OMIM:616176
Stt3B-Cdg
Thrombocytopenia, Cryptorchidism, Scrotal hypoplasia, Micropenis ORPHA:370924
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Death in infancy, Ventricular septal defect OMIM:614876
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Lig4 Syndrome
Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytopenia, Pancytopenia, Micropenis OMIM:606593
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Short to... OMIM:613458
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:155100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension, I... OMIM:617021
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Wide anterior fontanel, Overlapping toe, Fibular hypoplasia, Clinod... OMIM:201170
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Toe syndactyly, Ventricular septal defect, Patent ductus arteriosus, Spars... ORPHA:261120
Mmep Syndrome
Triphalangeal thumb, Split foot, Ventricular septal defect ORPHA:3434
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Desbuquois Syndrome
Abnormal femoral neck/head morphology, Camptodactyly of finger, Sparse hair, Radioulnar synostosi... ORPHA:1425
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyebrow, Sparse hair, Ventricular septal defect, Short stature, Sparse eyelashes OMIM:616901
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Atrial septal defect, Sparse eyebrow, Broad thumb, Ventricular septal defe... OMIM:600987
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Prominent eyelashes, Postnatal growth re... OMIM:616651
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Ventricular septal defect, Short middle phalanx of finger, A... OMIM:113000
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Vent... ORPHA:392
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Atopic dermatitis, Overlapping toe, Ventricular septal defect, Camptodactyl... OMIM:614262
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
8P23.1 Duplication Syndrome
Highly arched eyebrow, Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:251076
Lymphatic Malformation 10
Lymphedema OMIM:619369
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Bilateral single transverse palmar creases, Intrau... ORPHA:2516
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Cryptorchidism, Scrotal hypoplasia, Micropenis OMIM:615597
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the... OMIM:616145
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Rocker bottom foot, Camptodactyly, Sparse medial eyebrow, Laterally extend... OMIM:618804
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Neonatal death,... OMIM:228940
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Menorrhagia, Post-transf... OMIM:173470
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Death in childhood, Ventricular septal defect OMIM:613759
Coffin-Siris Syndrome 10
Clinodactyly, Ventricular septal defect OMIM:618506
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia, Genital ulcers OMIM:616744
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Preaxial hand polydactyly, Abnormal hair morphology, Ventricular septal def... OMIM:608406
Joubert Syndrome 18
Intrauterine growth retardation, Camptodactyly, Polydactyly, Ventricular septal defect OMIM:614815
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Low anterior hairline, Atrial septal defect, Ventricular septal defect OMIM:608227
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Prea... OMIM:618142
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Postaxial hand polydactyly, Ventricular... ORPHA:83473
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thick eyebrow, Hypertr... OMIM:619189
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Overlapping toe, Ventricular septal defect, Growth delay, Camptodactyly, Pa... OMIM:300963
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Oligohydramnios, Forearm undergrowth, Absent radius, Intra... OMIM:251230
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Diabetes insipidus, Di... OMIM:598500
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Syndacty... ORPHA:79094
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... ORPHA:3258
Timothy Syndrome
Cutaneous syndactyly, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... OMIM:601005
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Growth delay, Camptodactyly, Patent ductus arter... OMIM:179613
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Cognitive impairment, Abnormal shoulder morphology, Low ... ORPHA:2345
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural... OMIM:615355
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect ORPHA:2476
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant platelets OMIM:231200
Robin Sequence-Oligodactyly Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... ORPHA:3104
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal ... ORPHA:1307
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:601709
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Splenomegaly, Hypogonadotropic hypog... ORPHA:848
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly OMIM:614416
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Mcdonough Syndrome
Atrial septal defect, Sparse hair, Ventricular septal defect, Synophrys, Radial deviation of fing... OMIM:248950
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect ORPHA:3469
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:153640
Noonan Syndrome 12
Polyhydramnios, Atopic dermatitis, Ventricular septal defect, Supravalvular aortic stenosis, Tetr... OMIM:618624
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Genu valgum, Atrial septal defect, Scapular winging, Finger joint hyperm... OMIM:618870
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abno... ORPHA:401935
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Overlapping toe, Abnormal heart morphology, High anterior hairline, Camptod... ORPHA:363444
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardation, Disproportion... ORPHA:2772
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... ORPHA:500159
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Preaxial hand polydactyly, Atrial septal defect, Stillbirth, Ventricular septal d... OMIM:263630
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Ventricular septal defect, Abnormal heart morphology, Large placenta, Postnatal g... ORPHA:254534
Bartsocas-Papas Syndrome 1
Oligodactyly, Talipes equinovarus, Absent eyelashes, Short phalanx of finger, Hypoplastic scapula... OMIM:263650
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Highly arched eyebrow, Atrial septal defect, Cutaneous syndactyly, Overlappi... OMIM:618316
Congenital Rubella Syndrome
Skin rash, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormality... ORPHA:290
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Atrial septal defect, Truncus arteriosus, Abnormality of finger, Elbow... ORPHA:2538
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, L... OMIM:619151
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Growth delay, Mitral re... OMIM:612561
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Mild short stature, Ventricul... OMIM:169400
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Short stature, ... OMIM:608571
Carpenter Syndrome 1
Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina bifida occ... OMIM:201000
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... OMIM:618974
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia,... OMIM:249270
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Endocardial fibroelastosis, Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Aplasia of the proximal phalanges of the hand, Finger syndactyly, Ventricular sep... ORPHA:2256
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Tetralogy of Fallot, Arachnoda... ORPHA:261243
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Anemia ORPHA:2123
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormality of the clitoris, Anemia ORPHA:101028
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Weill-Marchesani Syndrome
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Short stature, Short thumb, ... ORPHA:3449
Woods Syndrome
Limited elbow extension, Ventricular septal defect, 3-4 finger cutaneous syndactyly, Frontal hirs... OMIM:615236
Malaria
Thrombocytopenia, Anemia ORPHA:673
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia... ORPHA:94066
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Short stature, Postnatal growth retardation, Ventricula... ORPHA:3369
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Ventricular septal defect, Rhizomelia, Bowing of the long bo... ORPHA:93267
Poland Syndrome
Hypoplasia of deltoid muscle, Unilateral brachydactyly, Dextrocardia, Syndactyly, Unilateral olig... OMIM:173800
Galloway-Mowat Syndrome 7
Cubitus valgus, Ventricular septal defect, Partial duplication of thumb phalanx, Clinodactyly, Ed... OMIM:618348
Hadziselimovic Syndrome
Low anterior hairline, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, ... OMIM:612946
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... OMIM:142900
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... ORPHA:1209
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low anterior hairline, Highly arched eyebrow, Atrial septal defect, Broad thumb, Ventricular sept... ORPHA:329224
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Short stature, Ventricular septal defect OMIM:314320
Trisomy 13
Atrial septal defect, Hydrops fetalis, Postaxial hand polydactyly, Ventricular septal defect, Abn... ORPHA:3378
Tyshchenko Syndrome
Polyhydramnios, Low anterior hairline, Atrial septal defect, Ventricular septal defect, Thick hai... OMIM:615102
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Tricuspid regurgitation, Syndac... OMIM:616589
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Ventricular septal defect, Large hands, Umbilical hernia, Bilateral single transvers... ORPHA:1770
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal hair whorl, Short distal phalanx of fin... OMIM:614261
Filippi Syndrome
Ventricular septal defect, Enlarged epiphyses, Finger syndactyly, Growth delay, Severe short stat... ORPHA:3255
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
8Q12 Microduplication Syndrome
Highly arched eyebrow, Atrial septal defect, Short foot, Ventricular septal defect ORPHA:228399
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, Synophrys, Bilateral single transverse palmar cr... ORPHA:1913
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... ORPHA:2008
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Donnai-Barrow Syndrome
Widow's peak, Wide anterior fontanel, Umbilical hernia, Ventricular septal defect ORPHA:2143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Short femur, Ventricular septal defect, Pleural effusion, Limb u... OMIM:616897
Phaver Syndrome
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular sep... ORPHA:2876
Cornelia De Lange Syndrome
Elbow dislocation, Bilateral single transverse palmar creases, Increased nuchal translucency, Del... ORPHA:199
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Low anterior hairline, Short 3rd toe, Short 3rd metacarpal, Short 4th metacarpal, Dry hair, Intri... OMIM:618569
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Intrauterine growth retard... OMIM:612938
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Pallister-Hall Syndrome
Broad thumb, Patent ductus arteriosus, Supernumerary metacarpal bones, 3-4 finger cutaneous synda... ORPHA:672
Transaldolase Deficiency
Atrial septal defect, Wide anterior fontanel, Oligohydramnios, Ventricular septal defect, Patent ... OMIM:606003
Preeclampsia
Thrombocytopenia, Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Proportionate short stature, Ventricular septal defect, Patent ductus arter... OMIM:617044
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Ventricular septal defect OMIM:602501
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect OMIM:601355
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Ventricular septal defect, Curly hair, Pulmonic stenosis, Short stature, Hy... OMIM:615279
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrichosis, Hypertrophic cardiomyopathy ORPHA:255241
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Char Syndrome
Hand polydactyly, Toe syndactyly, Ventricular septal defect, Supernumerary nipple, Patent ductus ... ORPHA:46627
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Clitoral hypertrophy, Spontan... ORPHA:96181
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Abnormal hip bone morpholog... ORPHA:1488
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Ventricular septal defect, Patent ductus... OMIM:618652
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Metaphyseal widening, Ventricular septal defect, Rhizomelia, 2-3 toe syndactyly, Short stature, I... OMIM:617164
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal hip bone morphology, Short stature, Ventricular septal defect ORPHA:1166
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in inf... OMIM:274000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Horizontal eyebrow, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:369891
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
3C Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Abnormal mitral valve morpholo... ORPHA:7
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly, Intrauterine growth retardation, Tet... OMIM:613398
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Synophrys, Intrauterine g... OMIM:270450
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Coarse hair, Brittle... ORPHA:75389
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Spinal dysraphism, Mesomeli... ORPHA:1908
Lambotte Syndrome
Intrauterine growth retardation, Preaxial foot polydactyly, Ventricular septal defect OMIM:245552
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Talipes equinovarus, Ventricular septal defect OMIM:209770
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Growth delay, 2-3 toe syndactyly, Synophrys, Talipes equinovarus, Tetr... ORPHA:3306
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hirsutism, Patent ductus arteriosus, Laterally extended eyebrow, Low anterior hairline, Synophrys... OMIM:610759
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomegaly, O... OMIM:617022
Prune Belly Syndrome
Atrial septal defect, Congenital hip dislocation, Oligohydramnios, Ventricular septal defect, Pat... ORPHA:2970
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Patent ductus arte... ORPHA:284169
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Sparse hair, Congenital hip dislocation, Ventricular septal defect, Finger syndac... ORPHA:217346
Mosaic Trisomy 9
Polyhydramnios, Rocker bottom foot, Spina bifida, Atrial septal defect, Hydrops fetalis, Deep pal... ORPHA:99776
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Pa... OMIM:244300
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Broad palm, Widow's peak,... OMIM:145420
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect OMIM:616898
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial effusion, Hirsutism, Camptodactyly, Bilateral single transverse palmar creases, Erysi... OMIM:235510
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Hypoplasia of the... OMIM:600123
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal def... ORPHA:435638
Sengers Syndrome
Thrombocytopenia OMIM:212350
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... OMIM:601927
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Deep palmar crease, Atrial septal defect, Arrhythmia, Aortic regurgitation... ORPHA:254346
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Cryptorchidism, Neutropenia, Anemia OMIM:614857
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Cryptorchidism, Hypothyroidism, Anemia OMIM:608104
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Menorrhagia, Giant platelets, Neutro... ORPHA:182050
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hip dysplasia, Atrial septal defect, Ventricular septal defect, Growth delay, Pate... OMIM:614576
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Chromosome 18Q Deletion Syndrome
Low anterior hairline, Rocker bottom foot, Atrial septal defect, Atopic dermatitis, Toe syndactyl... OMIM:601808
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
19P13.3 Microduplication Syndrome
Hip dysplasia, Hip subluxation, Ventricular septal defect, Growth delay, Pulmonary arterial hyper... ORPHA:447980
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, Atrial septal defect, Broad thumb, Toe syndactyly, Overlapping toe, Ventri... ORPHA:505237
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
3Mc Syndrome 1
Conjunctival telangiectasia, Highly arched eyebrow, Atrial septal defect, Wide anterior fontanel,... OMIM:257920
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect, Curly hair, Camptodactyly, Clinodactyly OMIM:617360
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular septal defect, ... OMIM:609029
Gastrointestinal Defects And Immunodeficiency Syndrome
Polyhydramnios, Hematochezia, Ventricular septal defect, Intrauterine growth retardation, Psorias... OMIM:243150
Bohring-Opitz Syndrome
Polyhydramnios, Low anterior hairline, Dislocated radial head, Atrial septal defect, Deep palmar ... OMIM:605039
Gm1 Gangliosidosis
Generalized hirsutism, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Abnor... ORPHA:354
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Mosaic Trisomy 16
Atrial septal defect, Short forearm, Ventricular septal defect, Abnormal heart morphology, Large ... ORPHA:1708
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Edema, Polyhydramnios, Ventricular septal defect OMIM:607598
Kagami-Ogata Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Limb u... OMIM:608149
Keutel Syndrome
Ventricular septal defect, Short distal phalanx of finger, Alopecia, Short stature, Pulmonary art... ORPHA:85202
Contractural Arachnodactyly, Congenital
Limited elbow extension, Talipes equinovarus, Atrial septal defect, Congenital finger flexion con... OMIM:121050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Hip dysplasia, Atrial septal defect, Ventricular septal defect, Death in infancy, Dehydration, Ri... OMIM:208085
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Metaphyseal chondrodysplasia, Absent eyelashes, Ventricular septal defect, Absent eyebrow, Short ... ORPHA:166035
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Thrombo... OMIM:617053
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, Second de... OMIM:618782
Ulnar-Mammary Syndrome
Absent hand, Camptodactyly of finger, Arrhythmia, Postaxial hand polydactyly, Abnormality of fing... ORPHA:3138
Feingold Syndrome Type 1
Tricuspid atresia, 4-5 toe syndactyly, Toe syndactyly, Abnormal heart morphology, Short middle ph... ORPHA:391641
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Rocker bottom foot, Deep palmar crease, Postaxial hand polydactyly, Overlapping f... OMIM:301056
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Ventricular septal defect, Short long bone, Short statur... OMIM:615630