Gene Summary

outer dynein arm docking complex subunit 3
b2b1885Clo,  Ccdc151,  C330001K17Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 bone structure Odad3tm1b(EUCOMM)Hmgu HET Early adult 3.76×10-05
impaired glucose tolerance Odad3tm1b(EUCOMM)Hmgu HET Early adult 2.07×10-05
preweaning lethality, incomplete penetrance Odad3tm1b(EUCOMM)Hmgu HOM   Early adult 7.64×10-05
decreased bone mineral density Odad3tm1b(EUCOMM)Hmgu HET   Early adult 8.03×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Odad3 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.

The table below shows human diseases associated to Odad3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Odad3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Abnormal cil... OMIM:611884
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Neonat... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Productive cough, R... OMIM:615451
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... OMIM:615481
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Ciliary Dyskinesia, Primary, 25
Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmonary obstruction, Rec... OMIM:615482
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Situs inversus to... OMIM:614017
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615504
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Situs inversus totalis, Cough, Dextrocardia,... OMIM:614679
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615505
Ciliary Dyskinesia, Primary, 18
Rhinitis, Decreased nasal nitric oxide, Abdominal situs ambiguus, Respiratory insufficiency due t... OMIM:614874
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... OMIM:618063
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Chro... OMIM:616481
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Situs inversus totalis, Ciliary dyskinesia OMIM:613193
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 26
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615500
Laterality Defects, Autosomal Dominant
Asplenia, Heterotaxy, Situs inversus totalis OMIM:601086
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi... OMIM:616037
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi... OMIM:612444
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary motility, R... OMIM:613807
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Rhinorrhea, Cough, D... OMIM:618254
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Congenitally corrected transposition of the great arteries, Decrea... OMIM:618300
Ciliary Dyskinesia, Primary, 22
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency due to defectiv... OMIM:615444
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Cough,... OMIM:300991
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Dextrocardia, Sinusitis, Situs inversus tot... OMIM:606763
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Bronchiectasis, Chronic rhinitis, Rhinorrhea, Dextrocardia, Situs inversus totali... OMIM:617577
Ciliary Dyskinesia, Primary, 19
Rhinitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Immotile ... OMIM:614935
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... OMIM:612650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Chronic sinusitis, Situs inversus totalis, Cough, Dextrocardia, Abd... OMIM:619607
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:608647
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic... OMIM:617092
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent pneumonia, Reduced ... OMIM:619436
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Rhinorrhea, Cough, Situs inversus totalis... OMIM:613808
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Respiratory distress, Situs inversus totalis, Upper airway obstruction OMIM:612776
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis OMIM:620032
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis OMIM:615872
Ossification Of The Posterior Longitudinal Ligament Of Spine
Diabetes mellitus, Increased bone mineral density, Ectopic ossification OMIM:602475
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... OMIM:208530
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Decreased nasal nitric oxide, Polysplenia, Chronic sinusit... OMIM:619608
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic rhinit... OMIM:612649
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Malformation of the hepatic duct... OMIM:615415
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Atrioventricular canal defect, Double outlet right ventricle, Transposition of the grea... OMIM:605376
Primary Ciliary Dyskinesia
Asplenia, Double outlet right ventricle, Abnormal sperm motility, Ventriculomegaly, Abnormal infe... ORPHA:244
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Transposition of the gre... OMIM:614779
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... OMIM:208540
Ciliary Dyskinesia, Primary, 34
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... OMIM:617091
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus, Male infertility, Situs inversus totalis, Absent outer dyn... OMIM:244400
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia OMIM:610852
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis OMIM:618801
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Chronic rhinitis, Recurrent pneumonia, Cough, Ciliary dyskinesia OMIM:616726
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Abnormal respiratory system physiology, Chronic rhinitis, Sinusitis, Ciliary dysk... OMIM:242670
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Sideroblastic anemia, Atrial septal defect, Thiamine-re... OMIM:249270
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Gout, Osteoporosis OMIM:610947
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Hydrocepha... ORPHA:1666
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura, Short stature ORPHA:3204
Nephronophthisis 16
Periportal fibrosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Cholestasis, Aortic val... OMIM:615382
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly ORPHA:1759
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations OMIM:116860
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Meningocele, Spinal dysraphism, Encephalocele, Ventricular ... ORPHA:1908
Osteoporosis OMIM:166710
Meckel Syndrome, Type 7
Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Choroid plexus cyst, Atrial septal... OMIM:267010
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... OMIM:604213
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ... OMIM:306955
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Abnormal bleeding, Bruising susceptibility,... OMIM:185070
Increased bone mineral density OMIM:265880
Hemochromatosis, Type 2A
Cirrhosis, Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Hepatomega... OMIM:602390
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Young Syndrome
Decreased fertility, Abnormality of the pancreas, Obstructive azoospermia ORPHA:3471
Proteus-Like Syndrome
Hydrocephalus, Communicating hydrocephalus, Venous insufficiency, Polycystic ovaries, Thymus hype... ORPHA:2969
Gracile Bone Dysplasia
Asplenia, Short stature, Hydrocephalus, Ascites, Hypoplastic spleen, Micropenis OMIM:602361
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Sideroblastic anemia, Communicating hydrocephalus, Hypochromic microcytic anem... OMIM:616084
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Asplenia, Double outlet right ventricle, Unbalanced atrioventricular ca... OMIM:619657
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Hypertension, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Heterotaxy, Visceral, 4, Autosomal
Midline liver, Atrioventricular canal defect, Ventricular septal defect, Transposition of the gre... OMIM:613751
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Primary hypothyroidism OMIM:225050
Hec Syndrome
Vaginal hydrocele, Endocardial fibroelastosis, Communicating hydrocephalus, Arrhythmia, Cardiomyo... ORPHA:2119
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Abnormal cerebellar vermis morphology, Hydrocephalus, Cerebellar hypoplasia ORPHA:2703
Mosaic Trisomy 9
Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, Abnormal fallopian tube morphology... ORPHA:99776
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Communicating hydrocephalus, Tetralo... ORPHA:2184
Cardiofacioneurodevelopmental Syndrome
Asplenia, Atrioventricular canal defect, Ventricular septal defect, Cryptorchidism, Abdominal sit... OMIM:619123
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Hypoglycorrhachia, Short stature, Jaundice, Communi... ORPHA:168577
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hydrocephalus, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly,... OMIM:610333
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Lissencephaly 4
Short stature, Cerebellar hypoplasia, Growth delay, Agenesis of corpus callosum, Colpocephaly OMIM:614019
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Myelomeningocele, Aplasia of posterior communicating arte... OMIM:613686
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Thrombocytopenia, Communicating hydrocephalus, Cryptorchidism ORPHA:1237
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Ciliary dyskinesia ORPHA:1882
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abdominal situs ambigu... OMIM:270100
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:615219
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Hypertension, Congestive heart failure, Hepatic steatosis, Oligospermia... OMIM:615703
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Hyperparathyroidism, Transient Neonatal
Patent ductus arteriosus, Ventriculomegaly, Enlarged kidney, Splenic cyst, Communicating hydrocep... OMIM:618188
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Meckel Syndrome
Pancreatic cysts, Asplenia, Ambiguous genitalia, Urethral atresia, Encephalocele, Anencephaly, Hy... ORPHA:564
Icf Syndrome
Anemia, Short stature, Communicating hydrocephalus, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Thakker-Donnai Syndrome
Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Rectovaginal fistula... ORPHA:1780
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Respiratory distress, Atrial septal defect ORPHA:89844
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Situs inversus totalis, Obstructive sleep apnea, Pulmonic stenosis OMIM:609008
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Impotence, Hepatocellular carcinoma, Azoospermia, Elevated hepatic tra... OMIM:235200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of penis, Holoprosencephaly, Situs inversus tota... ORPHA:990
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Subdural... ORPHA:25
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Meckel Syndrome, Type 1
Asplenia, Chiari malformation, Ventriculomegaly, Ambiguous genitalia, female, Abnormal cardiac se... OMIM:249000
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia ORPHA:1538
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Mitral valve prolapse, Hydrocephalus, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Atrioventricular canal defect, Chiari malformation, Ventriculomegaly, Pulmonary artery ... OMIM:265380
Nephronophthisis 2
Respiratory insufficiency, Situs inversus totalis, Respiratory failure OMIM:602088
Meacham Syndrome
Patent ductus arteriosus, Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal de... ORPHA:3097
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, ... OMIM:617397
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Apnea, Res... ORPHA:2257
Fetal Gaucher Disease
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Stillbirth, Abnormality of... ORPHA:85212
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia, Hydrocephalus OMIM:209970
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Neonatal death, Hepatomegaly, Colpocephaly OMIM:614870
Cole-Carpenter Syndrome 1
Short stature, Hydrocephalus, Communicating hydrocephalus OMIM:112240
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pagod Syndrome
Meningocele, Sudden cardiac death, Ambiguous genitalia, Abnormal aortic morphology, Encephalocele... ORPHA:991
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Hemophilia A
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... ORPHA:98878
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Jaundice, Hypertension, Situs inversus totalis, Dextrocardia, Hepatomegaly, Hepatic cysts OMIM:613095
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Dextrocardia, Cryptorchidism ORPHA:2863
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Mucopolysaccharidosis Type 2
Abnormal aortic morphology, Abnormal mitral valve morphology, Short stature, Enlarged tonsils, Co... ORPHA:580
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary a... ORPHA:210122
Agnathia-Otocephaly Complex
Tracheomalacia, Secundum atrial septal defect, Situs inversus totalis, Respiratory distress OMIM:202650
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Congenital Toxoplasmosis
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Lympha... ORPHA:858
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Short stature, Decreased testicular si... ORPHA:280679
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Growth dela... OMIM:615234
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia OMIM:123155
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphadenopathy, Abnor... ORPHA:3226
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis OMIM:166260
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... ORPHA:404
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... ORPHA:36382
Shprintzen-Goldberg Syndrome
Chiari malformation, Ventriculomegaly, Mitral valve prolapse, Communicating hydrocephalus, Abnorm... ORPHA:2462
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Anemia, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus... OMIM:619302
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... ORPHA:399805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Cerebellar hemisphere hypoplasia, Ventriculomegaly, Cerebellar hypoplasia, Decreased testicular s... OMIM:615287
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Decreased testic... OMIM:300845
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Developmental And Epileptic Encephalopathy 66
Anemia, Ventricular septal defect, Atrial septal defect, Dextrocardia, Cryptorchidism, Neutropenia OMIM:618067
Mirage Syndrome
Patent ductus arteriosus, Leukopenia, Anemia, Petechiae, Shawl scrotum, Decreased testicular size... OMIM:617053
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal cerebellum morphology, Cerebral hemorrhage, ... ORPHA:97339
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:619702
Congenital Factor Xiii Deficiency
Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemo... ORPHA:331
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Dandy-Walker Syndrome
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... OMIM:220200
Alpha-Mannosidosis, Infantile Form
Chiari malformation, Communicating hydrocephalus, Pancytopenia, Hepatosplenomegaly, Aortic regurg... ORPHA:309282
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:475
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Hypogonadism OMIM:615994
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyp... ORPHA:90065
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... ORPHA:325
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Hepatic failure, Ambiguou... ORPHA:261519
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... OMIM:607091
Coach Syndrome 2
Hepatic fibrosis, Hydrocephalus, Elevated hepatic transaminase, Hypertension, Portal fibrosis, Co... OMIM:619111
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical adenoma, Dex... ORPHA:403
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... ORPHA:216694
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Growth delay, Cerebellar atrophy, I... ORPHA:488635
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Asplenia, Chronic active hepatitis, Premature ovarian insufficiency, Male hy... OMIM:240300
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Adrenal hype... ORPHA:251274
Marden-Walker Syndrome
Ventricular septal defect, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocep... ORPHA:2461
Sweeney-Cox Syndrome
Patent ductus arteriosus, Asplenia, Patent foramen ovale, Cerebellar hypoplasia, Bilateral crypto... OMIM:617746
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ... ORPHA:369929
Severe Hemophilia A
Anemia, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising ... ORPHA:169802
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Cer... OMIM:618291
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal bleeding, Hepatomegaly OMIM:300884
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Later... OMIM:619534
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Masa Syndrome
Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Cerebellar vermis hypoplasia ORPHA:1532
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam... OMIM:613313
Poland Syndrome
Dextrocardia OMIM:173800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Ventricular septal defect, Short stature, Hy... OMIM:615630
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... ORPHA:465
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, CSF pleocytosis, Transient ischemic attack, Cerebral vasculit... ORPHA:140989
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Epid... ORPHA:464329
Microphthalmia, Syndromic 9
Respiratory insufficiency, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium... OMIM:601186
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Heart block, Hepatomegaly, Thrombocytopenia, Aplastic anemia, Sple... ORPHA:398124
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Cereb... OMIM:617967
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tract abnormality,... ORPHA:79301
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Chiari malformation, Ventriculomegaly, Intracr... ORPHA:2481
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic fibrosis, Abnormality of the liver, Abnormal cerebellum morphol... ORPHA:1505
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Intracranial hemorrhage, Hy... OMIM:614424
Reversible Cerebral Vasoconstriction Syndrome
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... ORPHA:284388
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent ductus arteriosus, Patent foramen ovale, Short stature, Mild fetal ventriculomegaly, Commu... OMIM:619841
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, ... OMIM:614480
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, CSF pleocytosis, Intrauterine growth retardation, Hepatomegaly, Increased CSF i... OMIM:615010
47,Xyy Syndrome
Macroorchidism, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydrocephalus, Azoospe... ORPHA:8
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Hypoch... ORPHA:99147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Ag... OMIM:613153
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... OMIM:269200
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Tetralogy of Fallot, Cryptorchidism ORPHA:250994
Sneddon Syndrome
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Lymphopenia, Stroke OMIM:182410
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... ORPHA:231160
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Infantile Sialic Acid Storage Disease
Hydrocephalus, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocy... OMIM:269920
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... OMIM:620010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, St... ORPHA:449285
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage OMIM:603284
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Moderate Hemophilia A
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... ORPHA:169805
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Cerebral hemorrhage, Cerebellar hypoplasia, Bicuspid aortic valve, Stroke OMIM:300049
Hereditary Hemorrhagic Telangiectasia
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary... ORPHA:774
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... ORPHA:853
Ring Chromosome 21 Syndrome
Short stature, Infertility, Azoospermia, Holoprosencephaly, Abnormal heart morphology, Amenorrhea ORPHA:1445
Scimitar Syndrome
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Pneumothorax, Tru... ORPHA:185
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin,... ORPHA:163596
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Gray Platelet Syndrome
Abnormal bleeding, Abnormality of the menstrual cycle, Bruising susceptibility, Epistaxis, Thromb... ORPHA:721
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Cirrhosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, ... OMIM:614576
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Cach Syndrome
Cerebellar vermis atrophy, Lateral ventricle dilatation, Secondary amenorrhea, Premature ovarian ... ORPHA:135
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Aortic aneurysm, Cryptorchidism, Fr... ORPHA:261102
Dengue Fever
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Ging... ORPHA:99828
Congenital Hydrocephalus
Abnormal heart morphology, Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Cerebral hemorrhage, Cerebellar hypoplasia, Hypertension, Leukocytosis, Ca... OMIM:618886
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Emphysema, Dextro... ORPHA:289
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Ce... OMIM:304100
Abnormal lateral ventricle morphology ORPHA:324422
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... ORPHA:3426
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia OMIM:614830
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
H Syndrome
Facial telangiectasia, Hypogonadism, Short stature, Decreased testicular size, Enlarged kidney, H... ORPHA:168569
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatosplenomegaly, Hepatomegaly, Cervical lymphadenopathy, Splenomegaly, ... OMIM:602782
Spinocerebellar Ataxia 32
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia OMIM:613909
Feingold Syndrome 1
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Interrupted aortic arch, Polysplen... OMIM:164280
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Communicating hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia ORPHA:457359
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Intracran... ORPHA:464321
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Short stature, Foam cells with lamellar inclusion bodies, Bone-ma... OMIM:607616
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Fanconi Anemia, Complementation Group R
Hydrocephalus, Growth delay OMIM:617244
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephal... OMIM:218350
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Pseudoaminopterin Syndrome
Asplenia, Patent foramen ovale, Short stature, Hydrocephalus, Cryptorchidism ORPHA:221120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, Abnorma... OMIM:613155
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Acholic sto... OMIM:619868
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Short stature, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutr... OMIM:606054
Tetraamelia Syndrome 1
Asplenia, Urethral atresia, Absent external genitalia, Hydrocephalus, Vaginal atresia, Hypoplasia... OMIM:273395
Biemond Syndrome Type 2
Short stature, Hypogonadism, Hydrocephalus, Hypospadias, Delayed puberty, Hypogonadotropic hypogo... ORPHA:141333
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Band Heterotopia
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Galactose Epimerase Deficiency
Growth delay, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Cerebellar vermis atrophy, Hepatic failure, Hepatic bridging fibrosis, Hepatome... OMIM:616719
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Urethral atresia, Isomerism, Enlarged kidney, Hydrocephalus, Dextr... OMIM:314390
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Acquired Purpura Fulminans
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged ... ORPHA:49566
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Hypogonadism, Anisopoikilocytosis, Azoosperm... ORPHA:300298
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar hypoplasia OMIM:616531
Griscelli Syndrome
Leukopenia, Encephalocele, Short stature, Hepatitis, Jaundice, Hydrocephalus, Abnormality of neut... ORPHA:381
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... ORPHA:52901
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Partial a... OMIM:220220
48,Xxyy Syndrome
Ventriculomegaly, Decreased testicular size, Infertility, Hypoplasia of penis, Azoospermia, Hyper... ORPHA:10
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa OMIM:620103
Hemophilia B
Prolonged bleeding after surgery, Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Dela... ORPHA:98879
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Anemia, Ventricular septal defect, Short stature, C... ORPHA:163979
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Lateral ventricle dilatation, Short stature,... OMIM:618330
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Lymphadenopathy, Growth delay, Hepatomegaly, Ascites, Sp... ORPHA:100025
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration, Abnormality of the hypothalamus-pituitary axis, Dextrocardia ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Dilated fourth ventricle, Cerebellar dysplasia, Ventricular septal defe... OMIM:617751
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Cerebral amyloid angiopathy... OMIM:605714
Cerebellar hypoplasia, Hydrocephalus, Elevated hepatic transaminase, Abnormal bleeding, Hepatomeg... ORPHA:79332
Ring Chromosome 7 Syndrome
Abnormal cerebellum morphology, Hypogonadism, Ventriculomegaly, Heart murmur, Short stature, Hydr... ORPHA:1449
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
8P11.2 Deletion Syndrome
Patent ductus arteriosus, Hemolytic anemia, Hypogonadism, Short stature, Mitral valve prolapse, H... ORPHA:251066
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Spontaneous, recurrent epistaxis, Hepatosplenomegaly, Thrombocytopenia, Aortic ... ORPHA:2072
49,Xyyyy Syndrome
Abnormality of the testis size, Ventriculomegaly, External genital hypoplasia, Decreased testicul... ORPHA:99330
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon, Chiari type I malformation, Ventriculomegaly ORPHA:401986
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... OMIM:615830
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Renpenning Syndrome
Decreased testicular size, Severe short stature, Hypospadias, Growth delay, Heterotaxy ORPHA:3242
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Cerebellar malformation, Ventriculomegaly ORPHA:324416
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Johanson-Blizzard Syndrome
Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Diabetes mellitus, Dextr... ORPHA:2315
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Meacham Syndrome
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Bicuspid aortic v... OMIM:608978
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery fistula, Polysplen... OMIM:614294
Familial Afibrinogenemia
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Menometrorrhagia ORPHA:98880
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Complete atrioventricular canal de... OMIM:264480
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Supernumerary nipple, Cryptorchidism OMIM:618929
Progressive Familial Intrahepatic Cholestasis
Short stature, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Isovaleric Acidemia
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Elevated circulating alanine aminotransferase concentration, ... OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure OMIM:300886
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Leukoencephalopathy With Calcifications And Cysts
Stroke, Dense calcifications in the cerebellar dentate nucleus, Cerebral hemorrhage ORPHA:542310
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal cerebellum morphology, Ventriculomegaly, Hypoplasia of the pons, C... ORPHA:101070
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteroni... ORPHA:231580
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... ORPHA:99827
Young Syndrome
Azoospermia OMIM:279000
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Abnormality of the pancreas, Sp... ORPHA:1926
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt... OMIM:615631
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Acute myelomonocytic leukemia, Abnormal macrophage morpholo... ORPHA:2585
Meckel Syndrome, Type 3
Hepatic fibrosis, Hydrocephalus, Malformation of the hepatic ductal plate, Bile duct proliferatio... OMIM:607361
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... ORPHA:699
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ... OMIM:619463
Alexander Disease
Abnormal dentate nucleus morphology, Hydrocephalus, Increased CSF protein concentration OMIM:203450
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus ORPHA:2578
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Car... OMIM:251000
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Elevated hepatic transaminase, Generalized lymphadenopathy, Hepatosp... ORPHA:3260
Distal Trisomy 5Q
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular ... OMIM:606003
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus ... ORPHA:1528
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... OMIM:616828
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Bicornuate uterus, Cerebellar cyst, Azoospermia, Hypoplasia of the uterus OMIM:601076
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Jaundice, Decreased circulating cortisol level, Increased circulating ACTH level,... ORPHA:90790
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Prolonged bleeding time, Hematemesis, Thrombocyto... ORPHA:906
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, V... ORPHA:370959
Hurler-Scheie Syndrome
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morph... ORPHA:93476
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Nephronophthisis 18
Hypertension, Hydrocephalus, Cholestasis, Portal fibrosis OMIM:615862
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Short stature, Lateral ventricle dilatation OMIM:619420
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Lateral ventricle dilatation OMIM:300982
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventriculomegaly, Petechiae, Cerebellar hypoplasi... OMIM:251290
Meningocele, Ambiguous genitalia, Abnormality of the pancreas, Abnormal cardiac septum morphology... ORPHA:3376
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... OMIM:263400
Hydrocephalus OMIM:148800
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia OMIM:613677
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Ventricular septal defect, Cerebellar cyst, Cereb... ORPHA:79243
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Multiple Sulfatase Deficiency
Ventriculomegaly, Short stature, Hydrocephalus, Hepatomegaly, Increased CSF protein concentration... OMIM:272200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Pancytopenia, Atrial septal defect, Dextrocardia, Hepatomegaly, Thr... OMIM:277380
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... OMIM:615954
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Anemia, Intracranial hemorrhage, Stillbirth OMIM:241500
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Dilated cardiomyopath... ORPHA:99901
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Arteriosclerosis, Splenomegaly ORPHA:75234
Lissencephaly 5
Occipital encephalocele, Cerebellar hemisphere hypoplasia, Hydrocephalus, Cerebellar vermis hypop... OMIM:615191
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Splenomegaly, Chylopericardium, Congestive heart failure, Growth... ORPHA:2414
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventriculomegaly, Hypogonadism, Cerebellar hypoplasia, Ventricular sept... OMIM:300514
Lipodystrophy, Congenital Generalized, Type 3
Short stature, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Primary amenorrhea, Splenomegaly OMIM:612526
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hepatomegaly, Lateral ventricle dilatation ORPHA:79326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons OMIM:615181
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Immunodeficiency 54
Reduced natural killer cell count, Short stature, Lymphadenopathy, Hepatomegaly, Intrauterine gro... OMIM:609981
Cerebral Visual Impairment
Hydrocephalus, Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Marden-Walker Syndrome
Dextrocardia, Cryptorchidism OMIM:248700
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Growth delay, Splenomegaly OMIM:619164
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Lateral ventricle dilatation, Pulmonary artery sling, Septate vagina, Cryptorchidism, C... ORPHA:261537
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Leukemia, Ventriculomegaly, Ventricular septal defect OMIM:602501
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Abnormal heart morphology, Atrial septal defect, Abnormal aortic valve morphology ORPHA:261197
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Hepatitis, Intracranial hemorrhage, Eosinophilia, Stroke, Neutropenia ORPHA:1163
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... ORPHA:158057
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Azoospermia, Male hypo... OMIM:228300
8P Inverted Duplication/Deletion Syndrome