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
thrombocytopenia Baiap2tm1b(KOMP)Wtsi HET Early adult 1.42×10-05
preweaning lethality, incomplete penetrance Baiap2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal testis morphology Baiap2tm1b(KOMP)Wtsi HET 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 100% (2 of 2)
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 0.0% (0 of 2)
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 100% (2 of 2)
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 100% (5 of 5)
Embryo N/A homozygote 100% (1 of 1)
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 0.37% (2 of 547)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cecum 5.67% (20 of 353)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
chest bone Unavailable
colon 16.15% (21 of 130)
diaphragm 0.0%
duodenum 3.2% (4 of 125)
epididymis 14.49% (20 of 138)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.78% (1 of 129)
heart 0.36% (2 of 559)
hindlimb 0.0%
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
ileum 14.84% (19 of 128)
jejunum 9.45% (12 of 127)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.33% (1 of 306)
midbrain 0.0%
olfactory lobe 0.37% (2 of 545)
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
stomach pyloric region 0.0%
striatum 0.55% (3 of 546)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
tongue 4.03% (5 of 124)
trachea 0.54% (3 of 555)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 541)
vagina 0.0%
vas deferens 4.1% (15 of 366)
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 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
placenta 16.67% (7 of 42)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 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
Testicular torsion, Torsion of appendix of testis OMIM:187400
Lipedema
Edema OMIM:614103
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
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
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Menorrhagia, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... ORPHA:521308
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Short stature, Camptodactyly of finger, Brachydactyly, Ventri... ORPHA:1937
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Cognitive impairment, Short stature, Ventricular septal defect, D... ORPHA:2515
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Abnormal h... ORPHA:93323
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Chilblain Lupus 2
Edema OMIM:614415
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Fetal Minoxidil Syndrome
Ventricular septal defect, Generalized hirsutism, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Short stature, Cognitive impairment, Ventricular septal defect, V... OMIM:614947
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Ve... OMIM:614326
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Short stature, Aplasia... ORPHA:52056
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:616738
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size OMIM:601815
Sonoda Syndrome
Ventricular septal defect, High axial triradius, Short stature OMIM:270460
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Feingold Syndrome Type 2
Short stature, Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short th... ORPHA:391646
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Short s... ORPHA:1388
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Patent ductus ... OMIM:249670
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Short stature, Syndactyly, Brac... OMIM:613005
Lymphatic Malformation 3
Lymphedema OMIM:613480
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Clinodactyly of the 5th finger, Secundum atrial septal defect, Oligodactyly, Short ... OMIM:619758
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture, Abnormal hand morphology OMIM:122850
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... ORPHA:753
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
White Sponge Nevus 2
Edema OMIM:615785
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Polysple... ORPHA:457083
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... OMIM:155100
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Wt Limb-Blood Syndrome
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia OMIM:194350
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect OMIM:253300
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Stt3B-Cdg
Cryptorchidism, Thrombocytopenia, Small scrotum, Micropenis ORPHA:370924
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Epiphyseal stippling OMIM:614876
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Pallister-Hall Syndrome
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Short stature... OMIM:146510
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus, Single trans... OMIM:619717
Lig4 Syndrome
Amenorrhea, Micropenis, Hypothyroidism, Pancytopenia, Cryptorchidism, Thrombocytopenia OMIM:606593
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios, I... OMIM:617021
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Thrombocytopenia, Small scrotum, Micropenis OMIM:615597
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fingers, Ventricul... OMIM:613458
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Short tibia, Single ... OMIM:201170
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Ventricular septal defect, Patent ductus arteriosus, Highly arched eyebrow, Spa... ORPHA:261120
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Mmep Syndrome
Ventricular septal defect, Triphalangeal thumb, Split foot ORPHA:3434
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly OMIM:614416
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Disproportionat... ORPHA:1425
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... OMIM:231200
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Adducted thumb, Muscular ventricular septal defect, Short stature, Brachydacty... OMIM:620062
Lymphatic Malformation 10
Lymphedema OMIM:619369
Roifman Syndrome
Short toe, Clinodactyly of the 5th finger, Short stature, Eczema, Brachydactyly, Irregular femora... OMIM:616651
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Pulmonary edema, Myofiber disarray, Left bundle... OMIM:115197
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Filippi Syndrome
Hypertrichosis, Sparse hair, Cutaneous syndactyly, Finger clinodactyly, Frontal hirsutism, Ventri... OMIM:272440
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Thrombocytopenia, Pancytopenia OMIM:613987
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Syndactyly, Aplasia/Hypoplasia of the dist... OMIM:113000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse hair, Sparse eyebrow, Short stature, Sparse eyelashes, Ventricular septal defect OMIM:616901
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Highly arched eyebrow, Toe syn... ORPHA:251076
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Atopic dermatitis, Camptodactyly, Ventr... OMIM:614262
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Atrial septal defect, Abnormality of the humeru... ORPHA:2538
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Sparse medial eyebrow, Highly arched eyebrow, Bilateral singl... OMIM:618804
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Cognitive impairment, Bilateral single transverse palmar creases,... ORPHA:2516
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial polydactyly, Prea... OMIM:618142
Li-Campeau Syndrome
Hypertrichosis, Atrial septal defect, Thick eyebrow, Short stature, Ventricular septal defect, Si... OMIM:619189
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Coffin-Siris Syndrome 10
Ventricular septal defect, Clinodactyly OMIM:618506
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Menorrhagia, Impa... OMIM:173470
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Postaxial ha... ORPHA:83473
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of the ulna, Mesomelia, Truncus... OMIM:228940
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... ORPHA:3258
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Low anterior hairline, Atrial septal defect OMIM:608227
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Genital ulcers, Lymphopenia OMIM:616744
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy of the 2nd finger, Ulnar devia... OMIM:616145
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation, Polydactyly, Camptodactyly OMIM:614815
Grange Syndrome
Syndactyly, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Hypertensi... ORPHA:79094
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Micromelia, Oligo... OMIM:251230
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Abnormal hair morphology, Atrial septal defect, Short stature, Ventricular septal defect, Patent ... OMIM:608406
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Noonan Syndrome 12
Atopic dermatitis, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Proximal place... OMIM:618624
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... OMIM:300963
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a... OMIM:601005
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect ORPHA:3469
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia... OMIM:598500
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Atrial septal defect, Tricuspid regurgitation, Finger joint hypermobility, Sh... OMIM:618870
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia OMIM:616277
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Eczema, Short 5th finger, Ventricular septal defect, Patent ductus arterio... ORPHA:500159
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Short stature, Aplasia/Hypoplasia of the radius, Abnorma... ORPHA:1307
Weill-Marchesani Syndrome
Aortic valve stenosis, Short stature, Pulmonic stenosis, Mitral regurgitation, Brachydactyly, Ven... ORPHA:3449
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Growth delay, Clinodactyly of the 5th finger, Atrial septal defect... OMIM:179613
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:617443
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Microcytic anem... ORPHA:848
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Bartsocas-Papas Syndrome 1
Sparse scalp hair, Talipes equinovarus, Absent eyebrow, Absent thumb, Alopecia, Syndactyly, Short... OMIM:263650
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... OMIM:618316
Noonan Syndrome 8
Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Eczema, Mit... OMIM:615355
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:153640
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Sparse hair, Short stature, Pulmonic stenosis, Ventr... OMIM:248950
Isolated Klippel-Feil Syndrome
Cognitive impairment, Ventricular septal defect, Abnormal shoulder morphology, Spina bifida, Low ... ORPHA:2345
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus OMIM:601355
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Short stature, Brachydactyly, Postaxial olig... OMIM:608571
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Menorrhagia OMIM:601709
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Atrial septal defect, Muscular ventricular septal defect, Left-to-right shunt, C... ORPHA:363444
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Limited elbow extension... ORPHA:401935
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Drumstick terminal phalanges, Death in childhood, Brachydactyly, Ventricular septal defect, Paten... OMIM:612938
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Disproportionate short-limb short stature, Hypoplastic left heart, Micromelia, Ventricular septal... ORPHA:2772
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, Genu valgum, U... OMIM:201000
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Adrenal hypoplasia, Anemia, Thrombocytopenia, Acute myeloid... OMIM:619151
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Eczema, Highly arched eyebrow, Ventricular septal defect, Patent ductus ar... OMIM:617751
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... OMIM:263630
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Ventricular septal defect, Polyhydramnios, Umbilical hernia, Postnatal... ORPHA:254534
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect,... OMIM:618974
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Cryptorchidism, Thrombocytopenia, Thiamine-responsive me... OMIM:249270
Pelger-Huet Anomaly
Eczema, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Ventricular septal defect, Umb... OMIM:169400
Malaria
Anemia, Thrombocytopenia ORPHA:673
Congenital Rubella Syndrome
Atrial septal defect, Skin rash, Short stature, Ventricular septal defect, Patent ductus arterios... ORPHA:290
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Anemia, Thrombocytopenia ORPHA:2123
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Slender finger, Low ... ORPHA:329224
Woods Syndrome
Supernumerary nipple, 3-4 finger cutaneous syndactyly, Limited elbow extension, Frontal hirsutism... OMIM:615236
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
16P13.11 Microduplication Syndrome
Atrial septal defect, Arachnodactyly, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:261243
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Transaldolase Deficiency
Anemia, Abnormality of the clitoris, Thrombocytopenia, Hepatosplenomegaly ORPHA:101028
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Pallister-Hall Syndrome
Atrioventricular canal defect, Ventricular septal defect, Umbilical hernia, Polydactyly affecting... ORPHA:672
Cornelia De Lange Syndrome
Short 1st metacarpal, Micromelia, Radioulnar synostosis, Ventricular septal defect, Long eyelashe... ORPHA:199
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Craniofaciofrontodigital Syndrome
Hypertrichosis, Finger joint hypermobility, Sacral hypertrichosis, Ventricular septal defect, Gas... ORPHA:363705
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Syndactyly, Dextrocardia, Hypoplasia of deltoi... OMIM:173800
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Postnatal growth retardation, Fifth finger distal phalanx clinodactyly... ORPHA:3369
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Ventricular sept... ORPHA:2256
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Short stature, Paroxysmal atrial tachycardia, Ventricular septal defect, Ca... ORPHA:49827
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Syndactyly, Brachydactyly, Ventricular septal defect, Portal hypertensio... OMIM:616589
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Filippi Syndrome
Growth delay, Clinodactyly of the 5th finger, Severe short stature, Supernumerary nipple, Short s... ORPHA:3255
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Hadziselimovic Syndrome
Low anterior hairline, Atrial septal defect, Short stature, Tetralogy of Fallot, Ventricular sept... OMIM:612946
Tyshchenko Syndrome
Low anterior hairline, Atrial septal defect, Supernumerary nipple, Short stature, Pulmonic stenos... OMIM:615102
Galloway-Mowat Syndrome 7
Short stature, Arachnodactyly, Partial duplication of thumb phalanx, Eczema, Ventricular septal d... OMIM:618348
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Sparse... OMIM:600987
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Clinodactyly of the 5th finger, Short stature OMIM:314320
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Holt-Oram Syndrome
Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal defect, Hypoplasi... OMIM:142900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Tachycardia, Tapered finger, Ventricular septal defect, Patent ductus arter... OMIM:613870
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Fetal Trimethadione Syndrome
Atrial septal defect, Bilateral single transverse palmar creases, Tetralogy of Fallot, Ventricula... ORPHA:1913
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, P... ORPHA:93267
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Donnai-Barrow Syndrome
Ventricular septal defect, Wide anterior fontanel, Umbilical hernia, Widow's peak ORPHA:2143
Trisomy 13
Ectrodactyly, Atrial septal defect, Cognitive impairment, Hydrops fetalis, Bilateral single trans... ORPHA:3378
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Low anterior hairline, Muscular ventricular septal defect, Dry hai... OMIM:618569
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Bilateral single transverse palmar creases, Brachydactyly, Abnormal hair pattern, ... ORPHA:1770
8Q12 Microduplication Syndrome
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect, Short foot ORPHA:228399
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Atrial septal defect, Abnormal hair whorl, Right ventricular hype... OMIM:614261
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Finger syndactyly, Split foot, Camptodactyly of finger, Te... ORPHA:2008
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Short femur, Adducted thumb, Flared metaphysis, Hydrops fetalis, Vent... OMIM:616897
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Short stature, Abnormality of the hand, Frontal upsweep of hair, Syndactyl... ORPHA:369891
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Abnormality of the palmar creases, Ventricular sep... OMIM:618652
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Char Syndrome
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, Supernumerary nipple, Ventricular sep... ORPHA:46627
Phaver Syndrome
Myelomeningocele, Broad hallux phalanx, Camptodactyly of finger, Radioulnar synostosis, Ventricul... ORPHA:2876
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Hypertrophic c... OMIM:615279
Preeclampsia
Polycystic ovaries, Thrombocytopenia, Type I diabetes mellitus ORPHA:275555
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Short stature, Anencephaly, Micromelia, Tetralogy of Fallot, Ven... ORPHA:1908
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Overlapping toe, Talipes equinovarus, Atrial septal defect, Short stature, Arachnodactyly, Hypere... ORPHA:505237
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Syndactyly, Polydactyly OMIM:602501
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Transaldolase Deficiency
Wide anterior fontanel, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus... OMIM:606003
Short Stature-Micrognathia Syndrome
2-3 toe syndactyly, Coxa valga, Short stature, Metaphyseal widening, Broad femoral neck, Ventricu... OMIM:617164
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrichosis, Hypertrophic cardiomyopathy ORPHA:255241
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:617044
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Single transverse palmar crease, Long eyelashes, Clinodactyly of the 5... OMIM:610759
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Brittle hair, Alopecia, Short stature, Coarse hair, Ventricular septal defe... ORPHA:75389
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Thin eyebrow, Ventricular septal defect, Intrauterine growth retardation, I... OMIM:617635
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Menorrhagia, Abnormal number of alp... OMIM:139090
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Tetralogy of Fallot, Abnormal hip bone morphology ORPHA:1166
Braddock-Carey Syndrome 1
Talipes equinovarus, Sparse hair, Small hand, Camptodactyly, Ventricular septal defect, Clinodact... OMIM:619980
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Short femur, Foot oligodactyly, Anterior encephalocele OMIM:601357
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Short stature, Camptodactyly of finger, Ventricular septal defect, ... ORPHA:1488
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Prostate cancer, Hepatosplenomegaly, Thrombocytopeni... ORPHA:158057
Inverted Duplicated Chromosome 15 Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly, Tetralogy... ORPHA:3306
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... OMIM:222300
Prune Belly Syndrome
Atrial septal defect, Talipes equinovarus, Cognitive impairment, Congenital hip dislocation, Tetr... ORPHA:2970
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect OMIM:616898
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Atrial septal defect, Short stature, Small hand, Highly arched eyebrow, Ventri... OMIM:270450
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Overlapping toe, Atrial septal defect, Talipes equinovarus, Short stature, Down-sloping shoulders... OMIM:617452
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Sy... ORPHA:284169
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Lambotte Syndrome
Ventricular septal defect, Preaxial foot polydactyly, Intrauterine growth retardation OMIM:245552
Coffin-Siris Syndrome 7
Sparse scalp hair, Bicuspid aortic valve, Clinodactyly of the 5th finger, Thick eyebrow, Short st... OMIM:618027
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
19Q13.11 Microdeletion Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Sparse hair, Supernumerary nipple, Congenital h... ORPHA:217346
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Lethal Congenital Contracture Syndrome 10
Talipes equinovarus, Overriding aorta, Adducted thumb, Hydrops fetalis, Overlapping fingers, Vent... OMIM:617022
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Postaxial polydactyly, Hip dysplasia, Ventricular septal defect, Patent duc... OMIM:614576
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... ORPHA:3104
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Clinodactyly of the 5th finger, Atrial septal defect, Toe clinodactyly, Mi... ORPHA:254346
19P13.3 Microduplication Syndrome
Growth delay, Hip dysplasia, Long fingers, Ventricular septal defect, Hip subluxation, Clinodacty... ORPHA:447980
Chromosome 6Pter-P24 Deletion Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Frontal upsweep of hair, Tetralogy of Fallo... OMIM:612582
Kapur-Toriello Syndrome
Atrial septal defect, Joint contracture of the hand, Camptodactyly of finger, Overlapping fingers... OMIM:244300
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Sengers Syndrome
Thrombocytopenia OMIM:212350
3P25.3 Microdeletion Syndrome
Overlapping toe, Atrial septal defect, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger synda... ORPHA:435638
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Brachydactyly, Heart murmur, Ventricular septal defect, ... ORPHA:166035
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Mosaic Trisomy 9
Atrial septal defect, Talipes equinovarus, Deep palmar crease, Oligohydramnios, Hydrops fetalis, ... ORPHA:99776
Meckel Syndrome, Type 4
Atrial septal defect, Anencephaly, Ventricular septal defect, Postaxial hand polydactyly, Bowing ... OMIM:611134
Myh9-Related Disease
Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... ORPHA:182050
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Muscular ventricular septal defect, Overlapp... ORPHA:79324
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defect, Tetralogy of... OMIM:600123
Suleiman-El-Hattab Syndrome
Hirsutism, Atrial septal defect, Thick eyebrow, Brachydactyly, Polydactyly, Frontal hirsutism, Ve... OMIM:618950
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ventricular septal defect, Pericardial lymphangiectasia, Umbil... OMIM:235510
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
3Mc Syndrome 1
Growth delay, Wide anterior fontanel, Clinodactyly of the 5th finger, Atrial septal defect, Super... OMIM:257920
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Adducted thumb, Arachnodactyly,... OMIM:121050
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Kury-Isidor Syndrome
Hypertrichosis, Talipes equinovarus, Alopecia, Brachydactyly, Ventricular septal defect, Rocker b... OMIM:619762
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Miscarriage, Clinodactyly of the 5th finger, Short 1st metacarpal... ORPHA:2438
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Tricuspid regurgitation, Thick eyebrow, Mitral regurgitation, Ventricular s... OMIM:615879
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Gm1 Gangliosidosis
Hirsutism, Generalized hirsutism, Cognitive impairment, Short stature, Camptodactyly of finger, H... ORPHA:354