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Gene: Odad3 MGI:1924859

Gene Summary

Name:

outer dynein arm docking complex subunit 3

Synonyms:

b2b1885Clo, Ccdc151, C330001K17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal bone structure	Odad3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.76×10^-05
decreased bone mineral density	Odad3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.03×10^-05
preweaning lethality, incomplete penetrance	Odad3^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.64×10^-05
impaired glucose tolerance	Odad3^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.07×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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.

Human diseases associated with Odad3 (2 diseases)
Human diseases predicted to be associated with Odad3 (1132 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 30		Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi...	OMIM:616037
Primary Ciliary Dyskinesia		Asplenia, Double outlet right ventricle, Abnormal sperm motility, Ventriculomegaly, Abnormal infe...	ORPHA:244

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

Disease	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
Dextrocardia	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	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
Pyknoachondrogenesis	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
Pineocytoma	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
Alg13-Cdg	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
Trimethylaminuria	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
B4Galt1-Cdg	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
Acalvaria	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
Triploidy	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
Kleeblattschaedel	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
Polyrrhinia	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
Alg2-Cdg	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
Aspergillosis	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	Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Abnormal heart morpholog...	ORPHA:96092
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Central Precocious Puberty	Premature thelarche, Isosexual precocious puberty, Proportionate short stature, Hydrocephalus	ORPHA:759
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hy...	OMIM:220210
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Hydrocephalus, Short stature	ORPHA:1516
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistax...	OMIM:612840
Glycogen Storage Disease Ixb	Short stature, Increased hepatic glycogen content, Growth delay, Hepatomegaly, Splenomegaly	OMIM:261750
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Methylcobalamin Deficiency Type Cble	Abnormality of the liver, Ventriculomegaly, Hydrocephalus, Hypertension, Pancytopenia, Macrocytic...	ORPHA:2169
Familial Multiple Nevi Flammei	Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ar...	ORPHA:624
Cardiac Diverticulum	Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe...	ORPHA:1686
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg...	OMIM:214900
Microphthalmia-Brain Atrophy Syndrome	Abnormal pons morphology, Cerebellar vermis atrophy, Lateral ventricle dilatation	ORPHA:77299
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Chiari malformation, Ventricular septal defect, Short stature, Atrial septa...	OMIM:609053
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ...	ORPHA:231401
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Hydrocephalus, Hypoplastic female external genitalia, Cryptorchidism, Agenesis ...	OMIM:618577
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Cerebral hemorrhage, Abnormal bleeding, Elevated hepatic transaminase, Bruising susceptibility, E...	OMIM:277450
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Lateral ventricle dilatation, Pulmonary artery sling, Septate vagina, Ventricular septa...	ORPHA:261552
Congenital Total Pulmonary Venous Return Anomaly	Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Double outlet right ventr...	ORPHA:99125
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperp...	ORPHA:96181
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:614120
Gaucher Disease, Type Iii	Short stature, Pancytopenia, Vascular calcification, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:231000
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti...	OMIM:613812
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ...	OMIM:187300
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus	OMIM:618302
Autoerythrocyte Sensitization Syndrome	Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Abnormal erythrocy...	ORPHA:324636
49,Xxxxy Syndrome	Pulmonary embolism, Hypogonadism, Short stature, Decreased testicular size, Arrhinencephaly, Infe...	ORPHA:96264
Fanconi Anemia	Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum morphology, Abnormal caroti...	ORPHA:84
Menkes Disease	Intracranial hemorrhage, Short stature, Intrauterine growth retardation	OMIM:309400
Mowat-Wilson Syndrome	Asplenia, Ventriculomegaly, Abnormal cardiac septum morphology, Pulmonary artery sling, Septate v...	ORPHA:2152
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I...	OMIM:314050
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Agenesis of corpus callosum, Lateral ventricle dilata...	ORPHA:300573
Coach Syndrome 1	Hepatic fibrosis, Cirrhosis, Encephalocele, Vascular dilatation, Intrahepatic bile duct dilatatio...	OMIM:216360
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu...	OMIM:614470
Czeizel-Losonci Syndrome	Dextrocardia, Hypoplastic nipples	ORPHA:2437
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome...	OMIM:616860
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	ORPHA:272
3C Syndrome	Aplasia/Hypoplasia of the cerebellum, Atrioventricular canal defect, Ventriculomegaly, Ventricula...	ORPHA:7
Temple Syndrome	Precocious puberty, Short stature, Hydrocephalus, Cryptorchidism, Postnatal growth retardation	ORPHA:254516
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ...	OMIM:617394
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Hepatocellular carcinoma, Ab...	ORPHA:370
Greig Cephalopolysyndactyly Syndrome	Ventriculomegaly, Hydrocephalus, Hypospadias, Abnormal heart morphology, Cryptorchidism, Agenesis...	OMIM:175700
Normosmic Congenital Hypogonadotropic Hypogonadism	Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si...	ORPHA:432
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Hepatic failure, Short stature, Abnormal...	OMIM:614886
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Reduced natural killer cell count, Cerebral vasculitis, Growth delay, Eosinophilia, Decreased pro...	OMIM:243700
Tempi Syndrome	Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia, Ascites	ORPHA:284227
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar ...	OMIM:607596
Amyloidosis, Familial Visceral	Hypertension, Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Alpha-Thalassemia	Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia...	ORPHA:846
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar vermis atrophy, Intrahepatic biliary dysgenesis, Hepatosplenomegaly, Hepatomegaly, Spl...	OMIM:614866
Glycogen Storage Disease Ii	Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, H...	OMIM:232300
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Medulloblastoma	Cerebellar hemorrhage, Cerebellar cyst, Hydrocephalus, Elevated hepatic transaminase, Cerebellar ...	ORPHA:616
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Estrogen Resistance	Osteopenia, Hyperinsulinemia, Glucose intolerance, Impaired glucose tolerance	OMIM:615363
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Abnormal cardiac septum morphology, Abnormality of the gallbladder, Hyd...	ORPHA:2075
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren...	OMIM:600376
Non-Functioning Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:94080
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Cherry red s...	OMIM:257200
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:617068
Beta-Thalassemia	Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy...	ORPHA:848
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Jaundice, Hydrocephalu...	ORPHA:79282
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Gaucher Disease, Type Iiic	Mitral valve calcification, Mitral stenosis, Hydrocephalus, Calcification of the aorta, Pancytope...	OMIM:231005
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Agenesis of cerebellar vermis, Dandy-Walker malformation, Cerebe...	ORPHA:163961
Cog5-Cdg	Lateral ventricle dilatation, Short stature, Elevated hepatic transaminase, Intrauterine growth r...	ORPHA:263487
Isolated Cleft Lip	Situs inversus totalis	ORPHA:199302
Joubert Syndrome With Hepatic Defect	Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cerebellum, Cirrhosis, Neoplasm of the li...	ORPHA:1454
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe...	OMIM:602347
Aicardi-Goutieres Syndrome 1	Cardiomyopathy, Prolonged neonatal jaundice, Petechiae, Short stature, Vasculitis, Elevated hepat...	OMIM:225750
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Diencephalic Syndrome	Hydrocephalus, Long penis	ORPHA:1672
Extracranial Carotid Artery Aneurysm	Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, To...	ORPHA:494424
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P...	ORPHA:90795
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Colpoc...	OMIM:619955
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Short stature, Jaundice, Epistaxis, Hepatomegaly, Cholelithiasis, Intrahepatic cholest...	OMIM:211600
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Anemia, Hemolytic anemia, Lateral ventricle dilatation, Pericardial effusion, E...	OMIM:619487
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short stature, Hydrocephalus, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis	ORPHA:2701
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Hepatic failure, Ventriculomegaly, Ventricular septal defect,...	ORPHA:1655
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Primary amenorrhea	OMIM:229070
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Abnormal heart morphology, Growt...	ORPHA:79284
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Encephalocele, Ventriculomegaly, Short stature, Hydrocephalus, Atrial s...	ORPHA:93274
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Primary Myelofibrosis	Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Abnormal bleeding, Pancytopenia, Hepato...	ORPHA:824
Whipple Disease	Hypotension, Anemia, Hydrocephalus, Erectile dysfunction, Pericarditis, Myocardial infarction, He...	ORPHA:3452
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Cerebellar hypoplasia	OMIM:618731
Capillary Malformation-Arteriovenous Malformation	Telangiectasia, Cerebral ischemia, Arteriovenous malformation, Cerebral arteriovenous malformatio...	ORPHA:137667
Beta-Thalassemia Intermedia	Cholelithiasis, Pulmonary arterial hypertension, Cirrhosis, Abnormality of the liver, Decreased l...	ORPHA:231222
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mitral valve prol...	OMIM:177850
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Ventricular septal defect, Lateral ventricle dilatation, Cerebellar hyp...	ORPHA:3078
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Hydranenceph...	OMIM:225790
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage, Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, H...	OMIM:613154
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Chiari malformation, Hydrocephalus, Hypospadias, Cryptorchidism, Microp...	ORPHA:171839
Johanson-Blizzard Syndrome	Hepatic failure, Vascular dilatation, Ventricular septal defect, Short stature, Urethrovaginal fi...	OMIM:243800
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Splenomegaly, Secondary amenorrhea, Atherosclerosis, Oligomenorrhea, Congestive heart ...	ORPHA:79083
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Abdominal situs inversus	OMIM:618699
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Priapism, Jaundice, Splenic infarct...	OMIM:603903
Pentalogy Of Cantrell	Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, An...	ORPHA:1335
Wilson Disease	Cirrhosis, Anemia, Hepatitis, Jaundice, Abnormality of the menstrual cycle, Elevated hepatic tran...	ORPHA:905
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus, Ventriculomegaly, Short stature, Hydrocephalus, Cryptorchidism, Cerebel...	OMIM:609757
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Postnatal growth retardation, Supraventricular arrhythmia, Syncope...	ORPHA:75249
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Hypoplasia of the ...	OMIM:618736
Gaucher Disease Type 1	Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hyperspleni...	ORPHA:77259
Spermatogenic Failure 14	Male infertility, Azoospermia, Late spermatogenesis maturation arrest	OMIM:615842
Infantile Liver Failure Syndrome 3	Short stature, Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steato...	OMIM:618641
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Encephalocele, Arteriovenous malformation...	ORPHA:974
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Primary amenorrhea, Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventriculomegaly, Ventri...	OMIM:619418
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Persistent fetal circulation, Lateral ventricle dilatation, Mitral valv...	OMIM:612863
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Frontal Encephalocele	Spina bifida, Hydrocephalus, Encephalocele	ORPHA:1931
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Adrenal gland agenesis	OMIM:611812
Ring Chromosome 22 Syndrome	Azoospermia, Growth delay, Agenesis of corpus callosum	ORPHA:1446
Pallister-Hall-Like Syndrome	Short stature, Hydrocephalus, Chiari type I malformation, Occipital encephalocele, Micropenis	OMIM:241800
Superficial Siderosis	Enlarged sylvian cistern, Abnormal vertebral artery morphology, Abnormal cerebellar vermis morpho...	ORPHA:247245
Parkes Weber Syndrome	Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat...	ORPHA:90307
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Hepatomegaly, Mediastinal lymphadenopathy, ...	ORPHA:158029
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Short stature, Growth delay, Hepatomegaly, Intrauterine growth retardation, Cerebellar atrophy, S...	OMIM:618541
Mosaic Variegated Aneuploidy Syndrome 1	Ambiguous genitalia, Ventriculomegaly, Short stature, Cerebellar hypoplasia, Bifid scrotum, Pulmo...	OMIM:257300
Arachnoid Cyst	Encephalocele, Chiari malformation, Abnormal cerebellum morphology, Hydrocephalus, Holoprosenceph...	ORPHA:2356
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomegaly, Cerebral ischemia, A...	ORPHA:60040
Thanatophoric Dysplasia	Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Disproportionate...	ORPHA:2655
Cockayne Syndrome Type 3	Aortic root aneurysm, Retinal hemorrhage, Dense calcifications in the cerebellar dentate nucleus,...	ORPHA:90324
Joubert Syndrome 3	Lateral ventricle dilatation, Elongated superior cerebellar peduncle, Atrial septal defect, Enlar...	OMIM:608629
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Weiss-Kruszka Syndrome	Ventricular septal defect, Ventriculomegaly, Bicuspid aortic valve, Left ventricular hypertrophy,...	OMIM:618619
Congenital Sialidosis Type 2	Telangiectasia, Petechiae, Abnormal EKG, Hydrocephalus, Hepatosplenomegaly, Abnormal heart morpho...	ORPHA:93400
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Congestive heart fa...	ORPHA:363618
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus	ORPHA:363717
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypoplasia of penis, Holopros...	ORPHA:77298
Osteopetrosis, Autosomal Recessive 5	Anemia, Hepatic failure, Ventriculomegaly, Short stature, Extramedullary hematopoiesis, Hydroceph...	OMIM:259720
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Short stature, Hepatocellular carcinoma, Intrahepatic cholestas...	OMIM:601847
Hydranencephaly	Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter...	ORPHA:2177
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Mucopolysaccharidosis, Type Ii	Splenomegaly, Short stature, Hydrocephalus, Congestive heart failure, Hepatosplenomegaly, Severe ...	OMIM:309900
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Non-obstructive azoospermia	OMIM:618086
Craniosynostosis 6	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Cerebellar atrophy...	OMIM:616602
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo...	OMIM:614837
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Petechiae, Coombs-positive hemolyt...	OMIM:603909
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Adams-Oliver Syndrome 2	Retrocerebellar cyst, Hydrocephalus, Lateral ventricle dilatation, Cerebellar hypoplasia	OMIM:614219
Premature Ovarian Failure 10	Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,...	OMIM:612885
Polycythemia Vera	Pulmonary embolism, Intermittent claudication, Angina pectoris, Bruising susceptibility, Hyperten...	ORPHA:729
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Emanuel Syndrome	Patent ductus arteriosus, Chiari malformation, Ventriculomegaly, Hypogonadism, Truncus arteriosus...	ORPHA:96170
Symptomatic Form Of Hemochromatosis Type 1	Cirrhosis, Elevated jugular venous pressure, Infertility, Cholangiocarcinoma, Hepatocellular carc...	ORPHA:465508
Osteopetrosis, Autosomal Recessive 4	Anemia, Petechiae, Reticulocytosis, Growth delay, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:611490
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Tach...	ORPHA:1772
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Cirrhosis, Anemia, Short stature, Oligomenorrhea, Abnor...	ORPHA:264580
Desmosterolosis	Patent ductus arteriosus, Ambiguous genitalia, Ventriculomegaly, Hydrocephalus, Severe short stat...	ORPHA:35107
Renpenning Syndrome 1	Ventricular septal defect, Short stature, Decreased testicular size, Phimosis, Atrial septal defe...	OMIM:309500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Hepatic failure, Ventriculomegaly, Hydrocephalus, Abnormal myocardium morphology,...	ORPHA:228308
Hemangioblastoma	Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Chiari Malformation Type Ii	Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis...	OMIM:207950
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia	ORPHA:284417
Fish-Eye Disease	Atherosclerosis, Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Nasu-Hakola Disease	Hydrocephalus, Acute leukemia, Ventriculomegaly	ORPHA:2770
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus	ORPHA:251046
Adrenal Hypoplasia, Congenital	Precocious puberty, Azoospermia, Oligospermia, Delayed puberty, Cryptorchidism, Hypogonadotropic ...	OMIM:300200
Glutamine Deficiency, Congenital	Lateral ventricle dilatation, Subependymal cysts, Decreased CSF glutamine concentration, Neonatal...	OMIM:610015
Cryoglobulinemic Vasculitis	Abnormality of the liver, Petechiae, Purpura, Viral hepatitis, Mediastinal lymphadenopathy, Hepat...	ORPHA:91138
Bresek Syndrome	Decreased testicular size, Hydrocephalus, Growth delay, Cryptorchidism, Neonatal death, Intrauter...	ORPHA:85284
Spondyloenchondrodysplasia	Ventriculomegaly, Short stature, Hepatitis, Abnormal lateral ventricle morphology, Raynaud phenom...	ORPHA:1855
Essential Thrombocythemia	Abnormal cerebral vascular morphology, Transient ischemic attack, Myocardial infarction, Abnormal...	ORPHA:3318
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev...	OMIM:202010
Classic Homocystinuria	Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Eleva...	ORPHA:394
Adams-Oliver Syndrome 6	Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegal...	OMIM:616589
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Vascular Hyalinosis	Subarachnoid hemorrhage, Vascular dilatation, Hematochezia	OMIM:277175
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Petechiae, CSF pleocytosis, Jaundice, Elevated hepatic transaminase, Purpura, Bruising su...	ORPHA:540
Wolman Disease	Hepatic failure, Anemia, Bone-marrow foam cells, Hepatomegaly, Growth delay, Ascites, Splenomegaly	ORPHA:75233
Bloom Syndrome	Decreased fertility in females, Azoospermia, Intrauterine growth retardation, Facial telangiectas...	OMIM:210900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Axial Mesodermal Dysplasia Spectrum	Abnormality of the liver, Short stature, Hydrocephalus, Abnormality of the spleen, Abnormal morph...	ORPHA:1834
Hemorrhagic Fever-Renal Syndrome	Hypotension, Anemia, Petechiae, Elevated hepatic transaminase, Intracranial hemorrhage, Internal ...	ORPHA:340
48,Xxxy Syndrome	Pulmonary embolism, Hypogonadism, Decreased testicular size, Infertility, Hypoplasia of penis, Az...	ORPHA:96263
Glycogen Storage Disease Ixa1	Growth delay, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Trisomy 1Q	Patent ductus arteriosus, Ambiguous genitalia, Ventriculomegaly, Ventricular septal defect, Cereb...	ORPHA:261344
Primary Lipodystrophy	Cirrhosis, Splenomegaly, Angina pectoris, Congestive heart failure, Hypertension, Hepatic steatos...	ORPHA:90970
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins...	ORPHA:137675
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Hypoplasia of the pons, Decreased liver function, Dandy-Walker malf...	OMIM:618606
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Gastrointestinal...	ORPHA:131
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ...	ORPHA:251510
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Short stature, Postnat...	OMIM:620113
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Rhizomelic arm shortening, Dilated third ventricle, Rhizomelic leg shortening, Abnor...	ORPHA:397715
Optic Pathway Glioma	Precocious puberty, Hydrocephalus, Growth delay	ORPHA:2086
Gaucher Disease, Perinatal Lethal	Anemia, Hepatic failure, Ventriculomegaly, Petechiae, Ascites, Purpura, Hepatosplenomegaly, Hepat...	OMIM:608013
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele	OMIM:182940
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur...	OMIM:613673
Slc35A2-Cdg	Precocious puberty, Lateral ventricle dilatation, Short stature, Elevated hepatic transaminase, A...	ORPHA:356961
Autoimmune Polyendocrinopathy Type 3	Thymoma, Leukopenia, Biliary cirrhosis, Autoimmune hypoparathyroidism, Non-caseating epithelioid ...	ORPHA:227982
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Lymphopenia, ...	ORPHA:2306
Multiple Sulfatase Deficiency	Short stature, Hydrocephalus, Splenomegaly, Hepatomegaly	ORPHA:585
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia	OMIM:245200
Griscelli Syndrome Type 2	Petechiae, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, ...	ORPHA:79477
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Short stature, Hydrocephalus, Dandy-Walker malformation, Atrial septal defect, Aortic valve steno...	ORPHA:459061
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr...	ORPHA:95699
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level...	ORPHA:786
Carpenter Syndrome 2	Patent ductus arteriosus, Shawl scrotum, Bilateral cryptorchidism, Atrial septal defect, Situs in...	OMIM:614976
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:109120
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m...	ORPHA:90797
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Intrauterine growth retardation, Erythroid hyperplasia, Reticulocytosis, Cholecystitis,...	OMIM:266200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Hydrocephalus	ORPHA:397951
Autoimmune Polyendocrinopathy Type 4	Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis,...	ORPHA:227990
Functioning Gonadotropic Adenoma	Isosexual precocious puberty, Impotence, Enlarged polycystic ovaries, Decreased female libido, In...	ORPHA:91348
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent...	OMIM:610655
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventriculomegaly, Aqueductal stenosis, Ventr...	OMIM:619895
Bloom Syndrome	Acute myeloid leukemia, Telangiectasia, Abnormal proportion of CD8-positive T cells, Premature ov...	ORPHA:125
Temple Syndrome	Precocious puberty, Short stature, Decreased testicular size, Hydrocephalus, Cryptorchidism, Intr...	OMIM:616222
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis	OMIM:614897
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Hepatic fibrosis, Anencephaly, Hydrocephalus, Bi...	OMIM:612284
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation	ORPHA:93262
Gaucher Disease, Type I	Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi...	OMIM:230800
Abeta Amyloidosis, Dutch Type	Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage	ORPHA:100006
Osteopetrosis, Autosomal Recessive 2	Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocyt...	OMIM:259710
Osteopetrosis, Autosomal Recessive 7	Anemia, Lateral ventricle dilatation, Hydrocephalus, Growth delay, Hepatomegaly, Splenomegaly	OMIM:612301
Mucopolysaccharidosis, Type Vii	Splenomegaly, Short stature, Hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Postna...	OMIM:253220
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:2182
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Rhizomelia, Lateral ventricle dilatation, Short stature, Left ventricular hypertrophy, Hy...	OMIM:611209
Melanosis, Neurocutaneous	Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation	OMIM:249400
Bannayan-Riley-Ruvalcaba Syndrome	Telangiectasia, Short stature, Subcutaneous hemorrhage, Arteriovenous malformation, Aortic aneury...	ORPHA:109
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Hypertrophic cardiomyopathy, ...	OMIM:612938
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepatocellular carcin...	ORPHA:231226
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Short stature	OMIM:300558
Osteopetrosis, Autosomal Recessive 1	Anemia, Hydrocephalus, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:259700
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy	OMIM:600721
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Short stature, Hydrocephalus, Intrauterine growth retardation, Colpocephaly	OMIM:619833
Lowry-Maclean Syndrome	Atrioventricular canal defect, Abnormality of the abdominal organs, Bilateral cryptorchidism, Hyd...	ORPHA:2409
Stromme Syndrome	Cerebellar hypoplasia, Hydrocephalus, Accessory spleen, Stillbirth, Agenesis of corpus callosum, ...	OMIM:243605
Emanuel Syndrome	Patent ductus arteriosus, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Pulmon...	OMIM:609029
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary...	OMIM:235255
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Knobloch Syndrome	Dextrocardia, Lymphangioma	ORPHA:1571
Hurler Syndrome	Cardiomyopathy, Short stature, Hydrocephalus, Abnormal heart valve morphology, Angina pectoris, H...	ORPHA:93473
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Hepatic failure, Hydrocephalus, Hepatic calcification, Hepatomegaly, Arrhythmia, ...	ORPHA:157
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Colpocephaly, Ventricular septal defect, Short stature, Agenesis of ...	OMIM:309801
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
1Q44 Microdeletion Syndrome	Ventriculomegaly, Short stature, Abnormal cardiac septum morphology, Hydrocephalus, Growth delay,...	ORPHA:238769
Vacterl Association With Hydrocephalus	Abnormal heart morphology, Hydrocephalus, Aqueductal stenosis, Stillbirth	OMIM:276950
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Ventricular septal defect, Cerebellar hypoplasia, Hydrocephalus, Dan...	OMIM:613001
Albers-Schönberg Osteopetrosis	Anemia, Abnormal leukocyte morphology, Hydrocephalus, Short stature	ORPHA:53
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic...	OMIM:607765
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Patent foramen ovale, Ambiguous genitalia, Periportal fibrosis, Ventric...	OMIM:269860
Hurler Syndrome	Cardiomyopathy, Short stature, Hydrocephalus, Enlarged tonsils, Hepatosplenomegaly, Aortic regurg...	OMIM:607014
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Ventriculomegaly, Ventricular septal defect, Spina bifida, Bicuspid aortic va...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Ventriculomegaly, Ventricular septal defect, Spina bifida, Bicuspid aortic va...	ORPHA:363958
Androgen Insensitivity, Partial	Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro...	OMIM:312300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Cirrhosis, Anemia, Short stature, Oligomenorrhea, Hepat...	ORPHA:79240
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171420
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Cerebellar hypoplasia, Hydrocephalus, Intrauterine growth retardation	ORPHA:163966
Bilateral Generalized Polymicrogyria	Short stature, Growth delay, Lateral ventricle dilatation	ORPHA:208447
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Azoospermia, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypo...	OMIM:308700
Beta-Thalassemia Major	Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Splenomegaly, High-output congestive ...	ORPHA:231214
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, C...	OMIM:615895
Acys Amyloidosis	Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage	ORPHA:100008
Coccidioidomycosis	Hypoglycorrhachia, Abnormality of the liver, Increased CSF protein concentration, Cerebral ischem...	ORPHA:228123
Menkes Disease	Vascular dilatation, Abnormal carotid artery morphology, Intracranial hemorrhage, Venous insuffic...	ORPHA:565
Metatropic Dysplasia	Severe short stature, Hydrocephalus	ORPHA:2635
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Pituitary Deficiency Due To Rathke Cleft Cysts	Hypogonadotropic hypogonadism, Hydrocephalus, Intracranial hemorrhage	ORPHA:91350
Caroli Disease	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine...	ORPHA:53035
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Mild postnatal growth retardation, Erythroid hyperplasia, Reticulocytosis, Macr...	OMIM:224120
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventriculomegaly, Vascular ring, Ventricular septal defect, Hydrocephalus, Atrial septal defect, ...	OMIM:603387
Alkuraya-Kucinskas Syndrome	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Pericardial effusion, Hydrocephalu...	OMIM:617822
Crouzon Syndrome	Hydrocephalus, Chiari malformation, Cerebellar hypoplasia	ORPHA:207
Hellp Syndrome	Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Elevated h...	ORPHA:244242
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Cardiomyopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebel...	ORPHA:572798
Combined Oxidative Phosphorylation Defect Type 39	Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Cryptorchidi...	ORPHA:565624
Autoimmune Hepatitis	Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato...	ORPHA:2137
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Growth delay, Lateral ventricle dilatation	OMIM:615716
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele, Intrauterine growth retardation	ORPHA:1914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Dilated cardiomyopathy, Atr...	OMIM:253800
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations	ORPHA:231625
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Increased CSF lactate, Intraventricular hemorrhage, Neonatal death, I...	OMIM:619055
Gray Platelet Syndrome	Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrh...	OMIM:139090
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Hydr...	ORPHA:59315
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Glutaric Acidemia I	Hydrocephalus, Hepatomegaly, Lateral ventricle dilatation	OMIM:231670
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Hypogonadism, Cryptorchidism	OMIM:601794
Monosomy 18Q	Patent ductus arteriosus, Absence of the pulmonary valve, Short stature, Cerebellar hypoplasia, L...	ORPHA:1600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Aqueductal stenosis, Intrauterine growth retardation	ORPHA:3035
Smith-Lemli-Opitz Syndrome	Ambiguous genitalia, Precocious puberty, Hepatic steatosis, Hypertrophic cardiomyopathy, Holopros...	OMIM:270400
X-Linked Intellectual Disability, Wilson Type	Growth delay, Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Ecchymosis, E...	OMIM:153670
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus, Cr...	ORPHA:1647
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Crypto...	ORPHA:261250
Intellectual Developmental Disorder, Autosomal Dominant 36	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:616362
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Hydroc...	OMIM:612582
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus	ORPHA:2181
Mosaic Trisomy 1	Penile hypospadias, Ventricular septal defect, Lateral ventricle dilatation, Cerebellar hypoplasi...	ORPHA:1692
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto...	OMIM:616689
Noonan Syndrome 14	Lateral ventricle dilatation, Short stature, Mitral valve prolapse, Lymphopenia, Bruising suscept...	OMIM:619745
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Dextrotransposition of the great arteries, Ventricular septal defect, Lateral vent...	OMIM:619995
Dpagt1-Cdg	Anemia, Abnormal cerebellum morphology, Cerebellar hypoplasia, Elevated hepatic transaminase, Int...	ORPHA:86309
Mucopolysaccharidosis Type 1	Splenomegaly, Short stature, Hydrocephalus, Abnormal aortic valve morphology, Congestive heart fa...	ORPHA:579
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Chiari malformation, Rhizomelia, Hydrocephalus, Bruising susceptibility...	OMIM:618162
Walker-Warburg Syndrome	Ventriculomegaly, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Agenesis of corpu...	ORPHA:899
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Anemia, Reticulocytopenia, Short stature, Hydrocephalus, Pancytopenia, ...	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hy...	OMIM:613150
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Lateral ventricle dilatation	OMIM:617854
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ...	ORPHA:822
Q Fever	Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Elevated hepatic...	ORPHA:781
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter...	OMIM:613470
Osteogenesis Imperfecta	Aortic root aneurysm, Noncommunicating hydrocephalus, Ventriculomegaly, Cerebral hemorrhage, Rhiz...	ORPHA:666
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,...	OMIM:235555
Khan-Khan-Katsanis Syndrome	Patent foramen ovale, Anemia, Bilateral superior vena cava with no bridging vein, Ventriculomegal...	OMIM:618460
Cocaine Intoxication	Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent...	ORPHA:90068
Trisomy 17P	Patent ductus arteriosus, Short stature, Hydrocephalus, Hypoplasia of penis, Hypoplastic left hea...	ORPHA:261290
Familial Glucocorticoid Deficiency	Hypotension, Leydig cell neoplasia, Precocious puberty, Testicular adrenal rest tumor, Azoospermi...	ORPHA:361
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:276621
Intellectual Developmental Disorder, Autosomal Dominant 35	Hydrocephalus, Ventriculomegaly, Intrauterine growth retardation	OMIM:616355
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Elevated hepatic transaminase, Dandy-Walker malformation, Cryptorchidism	OMIM:310400
Hereditary Elliptocytosis	Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun...	ORPHA:288
Acute Liver Failure	Hypotension, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic tra...	ORPHA:90062
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
Tetrasomy 5P	Pulmonary arterial hypertension, Heart murmur, Cerebellar hypoplasia, Hydrocephalus, Congestive h...	ORPHA:3309
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hypertension, Hematemes...	OMIM:263200
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, Short stature, Hydrocephalus, Abnormality of neutrophils, H...	ORPHA:2720
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice...	OMIM:607626
Kyphoscoliotic Ehlers-Danlos Syndrome	Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Short stature, Bicuspid aortic valve, Ao...	ORPHA:536545
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Intrauterine growth retardation, Short stature	OMIM:300863
Gaucher Disease	Abnormal pericardium morphology, Mitral valve calcification, Cirrhosis, Anemia, Cherry red spot o...	ORPHA:355
Hardikar Syndrome	Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis...	OMIM:301068
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Hypersplenism, Pulmonic sten...	OMIM:616028
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt...	OMIM:235700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Hydrocephalus, Cryptor...	OMIM:619951
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Agenesis of corpus callosum...	ORPHA:1136
Fg Syndrome Type 1	Pulmonary arterial hypertension, Abnormal cerebellum morphology, Ventriculomegaly, Short stature,...	ORPHA:93932
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Pulmonary arterial hypertension, Rhizomelia, Hydrocephalus, Congestive he...	OMIM:616482
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Chiari type ...	OMIM:618476
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris...	ORPHA:740
Aase-Smith Syndrome I	Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Patent foramen ovale, Atrial septal defect, Hyposegmentation of neutrophil nuclei, Lateral ventri...	OMIM:620075
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel...	OMIM:602450
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Bruising susceptibility, Prominent superficial veins, Intrauterine growth retardat...	OMIM:612940
Mucopolysaccharidosis, Type Vi	Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonary insufficiency, Short stature,...	OMIM:253200
Distal Tetrasomy 15Q	Patent ductus arteriosus, Hydrocephalus, Hydrocele testis, Atrial septal defect, Hypoplastic aort...	ORPHA:314588
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the po...	OMIM:614969
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Complete atrioventricular canal defect, Accessory spleen, Ventricular s...	OMIM:236680
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Secundum atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Thromb...	OMIM:612541
Hydrolethalus	Abnormal fallopian tube morphology, Anencephaly, Arrhinencephaly, Hydrocephalus, Cryptorchidism, ...	ORPHA:2189
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage, Short stature	OMIM:616507
Microphthalmia, Syndromic 2	Double outlet right ventricle, Hypothyroidism, Ventricular septal defect, Adrenal insufficiency, ...	OMIM:300166
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia	ORPHA:48
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation, Short stature, ...	OMIM:619575
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage, Short stature	OMIM:618480
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation	OMIM:221770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:615249
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach...	ORPHA:30391
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Ventriculomegaly, Short stature, Mitral stenosis, Coarctation of aorta,...	OMIM:617260
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Crypt...	ORPHA:1812
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Disproportionate short-trunk short stature	OMIM:613330
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Microvesicular hepatic steatosis, Anemia, Hydrocephalus, Portal fibrosis, Chole...	OMIM:619377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Leukopenia, Anemia, Patent foramen ovale, Patent ductus arterios...	ORPHA:505248
Tetrasomy 9P	Pulmonary arterial hypertension, Absent gallbladder, Biliary atresia, Patent foramen ovale, Abnor...	ORPHA:3310
Halperin-Birk Syndrome	Ventriculomegaly, Perimembranous ventricular septal defect, Semilobar holoprosencephaly, Intraute...	OMIM:618651
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, Hydrocephalus, ST segment d...	OMIM:261740
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Immunodeficiency 47	Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat...	OMIM:300972
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Lethal short-lim...	ORPHA:1860
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Lateral ventricle dilatation, Cerebellar hypoplasia, Abnormal cere...	ORPHA:300570
Syndromic Diarrhea	Patent ductus arteriosus, Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of t...	ORPHA:84064
Meningioma	Abnormal cerebellum morphology, Impotence, Cerebral hemorrhage, Hydrocephalus, Syncope, Hypogonad...	ORPHA:2495
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Short stature	ORPHA:1946
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,...	ORPHA:99889
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Ambiguous genitalia, Ventriculomegaly, Sex reversal, Microp...	OMIM:612651
Giant Axonal Neuropathy 1, Autosomal Recessive	Abnormal cerebellum morphology, Lateral ventricle dilatation	OMIM:256850
Lateral Meningocele Syndrome	Meningocele, Patent ductus arteriosus, Ventricular septal defect, Short stature, Bicuspid aortic ...	OMIM:130720
Poland Syndrome	Abnormality of the liver, Atrial septal defect, Diabetes mellitus, Dextrocardia, Cryptorchidism, ...	ORPHA:2911
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Lateral ventricle dilatation	OMIM:619278
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Autosomal Dominant Cerebellar Ataxia	Dense calcifications in the cerebellar dentate nucleus, Azoospermia	ORPHA:99
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Short stature, Spherocytosis	ORPHA:66518
Familial Thrombocytosis	Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Transient ischemic at...	ORPHA:71493
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Hydrocephalus, Ventriculomegaly, Ventricular septal defect	OMIM:219730
Catel-Manzke Syndrome	Overriding aorta, Dextrocardia, Ventricular septal defect, Cryptorchidism	OMIM:616145
Desmosterolosis	Patent ductus arteriosus, Ventriculomegaly, Ambiguous genitalia, female, Rhizomelia, Ambiguous ge...	OMIM:602398
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Vascular dilatation, Myelomeningocele, Short stature, Cerebel...	OMIM:311200
Cushing Disease	Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating...	ORPHA:96253
Gorlin Syndrome	Hypogonadotropic hypogonadism, Hydrocephalus, Cryptorchidism	ORPHA:377
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Anemia, Hydrocephalus, Bruising susceptibility, Lymphadenopathy,...	ORPHA:667
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Renal artery aneurysm, Raynaud phenomenon, Elevated hepatic transaminase, Dil...	OMIM:615688
Thanatophoric Dysplasia, Type I	Disproportionate short-limb short stature, Neonatal death, Hydrocephalus, Lethal short-limbed sho...	OMIM:187600
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra...	ORPHA:567983
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal hemorrhage, Ischemic stroke, Hemolytic anemia, Cerebral hemorrhage, Dilation of Virchow-R...	OMIM:175780
Tyrosinemia, Type I	Cirrhosis, Anemia, Hepatic failure, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic t...	OMIM:276700
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Distal Monosomy 10Q	Patent ductus arteriosus, Lateral ventricle dilatation, Cerebellar hypoplasia, Short stature, Inf...	ORPHA:96148
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Primary amenorrhea, Impotence, Aplasia of the ovary, Infertility, Agonadism, Non-obstructive azoo...	ORPHA:2232
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest...	OMIM:278850
Primary Sclerosing Cholangitis	Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, H...	ORPHA:171
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle, Dysgenes...	OMIM:608091
Riddle Syndrome	Telangiectasia, Short stature, Generalized lymphadenopathy, Conjunctival telangiectasia, Intraven...	ORPHA:420741
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito...	OMIM:400045
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Bifid scrotum, Hydrocephalus, Hypertension, Prominent scrotal raphe,...	ORPHA:1555
Hereditary Pheochromocytoma-Paraganglioma	Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha...	ORPHA:29072
Beare-Stevenson Cutis Gyrata Syndrome	Chiari malformation, Ventriculomegaly, Bifid scrotum, Hydrocephalus, Hypoplastic labia majora, Hy...	OMIM:123790
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Abnormal...	ORPHA:544488
Cockayne Syndrome A	Irregular menstruation, Ventriculomegaly, Normal pressure hydrocephalus, Hypogonadism, Short stat...	OMIM:216400
Glycogen Storage Disease Xii	Anemia, Elevated circulating alanine aminotransferase concentration, Short stature, Normocytic an...	OMIM:611881
Cole-Carpenter Syndrome 2	Short stature, Hydrocephalus, Postnatal growth retardation	OMIM:616294
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Dilated third ventricle, Ventricular septal defect, Lateral vent...	ORPHA:464738
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Micropenis, Lateral ventricle dilatation, Cryptorchidism	OMIM:619847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Cereb...	OMIM:236670
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatic failure, Abnormal cerebellum morphology, Coronary artery atherosclerosis, Shor...	ORPHA:77293
Pheochromocytoma	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten...	OMIM:171300
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	ORPHA:220497
Aicardi Syndrome	Dilated third ventricle, Precocious puberty, Chiari malformation, Lateral ventricle dilatation, S...	OMIM:304050
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Ambiguous genitalia, Tricuspid regurgitation, Ventricular septal defect, Latera...	OMIM:263520
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Heterotaxy, Interrupted in...	OMIM:618846
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Sturge-Weber Syndrome	Pulmonary embolism, Chiari malformation, Abnormal cerebral vascular morphology, Hydrocephalus, Co...	ORPHA:3205
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis, Lateral ventricle dilatation	OMIM:618914
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Cerebellar hypoplasia, Hydrocephalus, Cerebellar atrophy, Cerebellar v...	OMIM:618590
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Cerebellar hypoplasia	OMIM:217090
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Abnormal dentate nucleus morphology, Aqueductal stenosis, Elongated superior cerebellar peduncle,...	OMIM:619512
22Q11.2 Deletion Syndrome	Meningocele, Hypoplasia of the thymus, Truncus arteriosus, Retinal arteriolar tortuosity, Abnorma...	ORPHA:567
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia...	ORPHA:75565
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar cyst, Hydrocephalus, Ventriculomegaly, Cerebellar vermis hypoplasia	OMIM:616538
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Patent foramen ovale, Ventricular septal defect, Hydrocephalus, Atr...	OMIM:210710
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Short stature, Interrupted aortic a...	ORPHA:250989
Trisomy 8P	Abnormal atrioventricular connection, Aplasia/Hypoplasia of the gallbladder, Dysplastic aortic va...	ORPHA:264450
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydroceph...	ORPHA:2839
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Restrictive Dermopathy	Congenital adrenal hypoplasia, Atrial septal defect, Dextrocardia, Aplasia/Hypoplastia of the ecc...	ORPHA:1662
Holoprosencephaly	Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Encephalocel...	ORPHA:2162
16P13.2 Microdeletion Syndrome	Dilated third ventricle, Ventriculomegaly, Hypogonadism, Short stature, Hydrocephalus, Cryptorchi...	ORPHA:500055
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Congenita...	ORPHA:731
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Mitral valve prolapse, Hydrocephalus, Hypertension, Bruising susceptibility...	OMIM:616914
Apert Syndrome	Chiari malformation, Ventriculomegaly, Hydrocephalus, Hypertension, Agenesis of corpus callosum, ...	ORPHA:87
Jacobsen Syndrome	Ventricular septal defect, Annular pancreas, Hydrocephalus, Labial hypoplasia, Clitoral hypoplasi...	OMIM:147791
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Coronary artery stenosis, Angina pectoris, Abnormal cardiomyocyte morphology, Low-o...	ORPHA:565612
Doors Syndrome	Double outlet right ventricle, Aspiration pneumonia, Respiratory distress, Adrenal hyperplasia, T...	ORPHA:79500
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Acute Transverse Myelitis	Hypoglycorrhachia, CSF pleocytosis, Priapism, Hypertension, Abnormal libido, Increased CSF protei...	ORPHA:139417
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Peho Syndrome	Cerebellar atrophy, Hydrocephalus, Ventriculomegaly	ORPHA:2836
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Thoracoabdominal Syndrome	Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Hypospadias, Transposition ...	OMIM:313850
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Hydrocephalus, Abnormal heart morphology, Cryptorchidism	OMIM:601499
Myelofibrosis	Purpura, Splenomegaly, Myeloproliferative disorder	OMIM:254450
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon...	ORPHA:2442
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Cardiac arrest, Dilated cardiomyopathy...	OMIM:300952
Gaucher Disease Type 3	Mitral valve calcification, Pulmonary arterial hypertension, Anemia, Pericardial effusion, Abnorm...	ORPHA:77261
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Short stature, Hydrocephalus, Atrial septal defect, Hypertrophic cardiomyopathy, Pu...	OMIM:115150
Apert Syndrome	Rhizomelic arm shortening, Ventriculomegaly, Ventricular septal defect, Cerebellar hypoplasia, Hy...	OMIM:101200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Severe short stature, Abnormal heart morphology, Cryptorchidism	ORPHA:1865
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism	OMIM:619244
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Chiari malformation, Ventricular septal defect, Short stature, Mitral s...	ORPHA:955
Witteveen-Kolk Syndrome	Ventriculomegaly, Short stature, Microphallus, Phimosis, Intracranial hemorrhage, Unilateral cryp...	OMIM:613406
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Ventriculomegaly, Ventricular septal defect, Cerebellar hypoplasia, Sho...	ORPHA:96121
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm...	OMIM:613795
Fanconi Anemia, Complementation Group L	Anemia, Cerebellar hypoplasia, Hydrocephalus, Aplasia of the uterus, Bone marrow hypocellularity,...	OMIM:614083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the co...	OMIM:614643
Genitourinary And/Or Brain Malformation Syndrome	Urogenital sinus anomaly, Chiari malformation, Agenesis of corpus callosum, Holoprosencephaly, Ch...	OMIM:618820
Oculocerebrorenal Syndrome Of Lowe	Anemia, Ventriculomegaly, Short stature, Azoospermia, Delayed puberty, Cryptorchidism, Thrombocyt...	ORPHA:534
Aymé-Gripp Syndrome	Patent ductus arteriosus, Ventriculomegaly, Short stature, Pericardial effusion, Hydrocephalus, P...	ORPHA:1272
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis...	OMIM:300908
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Hypogonadism, Short stature, Hydrocephalus, Mild postnatal growth retarda...	OMIM:101800
Mucopolysaccharidosis Type 3	Ventriculomegaly, Abnormal mitral valve morphology, Reduced left ventricular ejection fraction, H...	ORPHA:581
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cerebellar cortical atrophy, Short stature, Decreased testicular size, Hydrocephalus, Hepatic ste...	OMIM:619321
Craniopharyngioma	Cerebral ischemia, Hypogonadism, Hydrocephalus, Myocardial infarction, Delayed puberty, Growth de...	ORPHA:54595
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Hypoplastic male ex...	OMIM:605627
Lymphangioleiomyomatosis	Hydrocephalus, Chylopericardium, Lymphadenopathy, Gastrointestinal hemorrhage, Ascites, Abnormali...	ORPHA:538
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Viss Syndrome	Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Aortic root aneur...	OMIM:619472
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Ventriculomegaly, Syncope	OMIM:616260
Lhermitte-Duclos Disease	Enlarged cerebellum, Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Cirrhosis, Microvesicular hepatic steatosis, Lateral ventricle dilatati...	OMIM:300868
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele, Cerebellar vermis hypoplasia	ORPHA:2318
Oxoglutaric Aciduria	Hydrocephalus, Short stature	ORPHA:31
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Penile hypospadias, Short stature, Congenital posterior urethral valve, Cerebellar vermis hypopla...	OMIM:620083
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Ventricular septal defect, Lateral ventricle dilatation, Bicuspid aortic va...	ORPHA:457279
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Aortic root aneurysm, Patent foramen ovale, Rhizomelia, Short stature, Bicuspid aortic valve, Mit...	OMIM:245600
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Severe short stature, Hydrocephalus, Encephalocele, Neonatal short-limb short stature	OMIM:224400
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Aplasia of the uterus, Hypoplastic ...	ORPHA:457284
15Q Overgrowth Syndrome	Pulmonary arterial hypertension, Hydrocephalus, Dandy-Walker malformation, Mitral regurgitation, ...	ORPHA:314585
Loeys-Dietz Syndrome 1	Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct...	OMIM:609192
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Holoprosencephaly-Postaxial Polydactyly Syndrome	Ambiguous genitalia, Encephalocele, Abnormal cardiac septum morphology, Cerebellar hypoplasia, Hy...	ORPHA:2166
Wolf-Hirschhorn Syndrome	Precocious puberty, Ventriculomegaly, Ventricular septal defect, Short stature, Hydrocephalus, Bi...	OMIM:194190
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:617296
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation, Dilation of Virchow-Robin spaces	ORPHA:2148
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Elliptocytosis 1	Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Dubowitz Syndrome	Anemia, Abnormality of female external genitalia, Short stature, Hydrocephalus, Acute lymphoblast...	ORPHA:235
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism	ORPHA:3301
Arachnoiditis	Hydrocephalus	ORPHA:137817
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation	OMIM:101600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Bainbridge-Ropers Syndrome	Precocious puberty, Lateral ventricle dilatation, Inferior cerebellar vermis hypoplasia, Growth d...	OMIM:615485
Cryptococcosis	Cirrhosis, Lymphoid leukemia, Prostatitis, Hydrocephalus, Mediastinal lymphadenopathy, Peritonitis	ORPHA:1546
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Dilated fourth ventricle, Lateral ventricle dilatation, Short stature, ...	OMIM:619869
Marshall-Smith Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Ventriculomegaly, Ventricular septal d...	OMIM:602535
Achondroplasia	Disproportionate short stature, Hydrocephalus, Rhizomelia	ORPHA:15
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Hypospadias,...	OMIM:619479
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora	OMIM:207410
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage, Intrauterine growth retardation, Short stature	OMIM:619714
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Ventriculomegaly, Choroid plexus cyst	OMIM:617866
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Atrial septal defect, Micropenis, Cerebellar vermis hypoplasia	OMIM:616546
Nelson Syndrome	Testicular neoplasm, Hypertension, Intracranial hemorrhage	ORPHA:199244
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Stroke, Hydrocephalus, Ventriculomegaly	ORPHA:395
Costello Syndrome	Lymphangiectasis, Ventriculomegaly, Ventricular septal defect, Short stature, Enlarged cerebellum...	OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome	Abnormal fallopian tube morphology, Ambiguous genitalia, Tricuspid regurgitation, Abnormal testis...	ORPHA:2556
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Patent foramen ovale, Colpocephaly, Enlarged cerebellum, Hypospadias, Cryptorchidism, Chordee	ORPHA:477993
Reynolds Syndrome	Biliary cirrhosis, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase, Lymphopenia, Chol...	OMIM:613471
Weaver Syndrome	Patent ductus arteriosus, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, ...	OMIM:277590
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Ventricular septal defect, Short stature, Cerebellar hypoplasia,...	ORPHA:3472
Limb Body Wall Complex	Abnormality of the liver, Encephalocele, Myelomeningocele, Ventricular septal defect, Spina bifid...	ORPHA:2369
Cardiofaciocutaneous Syndrome	Short stature, Hydrocephalus, Abnormal heart valve morphology, Atrial septal defect, Hypertrophic...	ORPHA:1340
Pfeiffer Syndrome Type 2	Hydrocephalus, Chiari malformation, Aqueductal stenosis	ORPHA:93259
Kohlschutter-Tonz Syndrome-Like	Intrauterine growth retardation, Ventriculomegaly, Lateral ventricle dilatation, Ventricular sept...	OMIM:619229
Gabriele-De Vries Syndrome	Patent foramen ovale, Lateral ventricle dilatation, Cryptorchidism, Aortopulmonary collateral art...	OMIM:617557
Otopalatodigital Syndrome Type 2	Myelomeningocele, Encephalocele, Abnormal cardiac septum morphology, Cerebellar hypoplasia, Hydro...	ORPHA:90652
Loeys-Dietz Syndrome 2	Ascending tubular aorta aneurysm, Aortic arch aneurysm, Chiari malformation, Ascending aortic dis...	OMIM:610168
Fraser Syndrome 3	Hydrocephalus, Hypoplasia of penis, Stillbirth, Ascites, Small scrotum	OMIM:617667
Shprintzen-Goldberg Craniosynostosis Syndrome	Mitral valve prolapse, Aortic aneurysm, Hydrocephalus, Chiari type I malformation, Cryptorchidism	OMIM:182212
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Abnormal preputium morphology, Glandular hypospadias, Choroid plexus cyst, Lateral ventricle dila...	ORPHA:293725
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Mitral valve prolapse, Hydrocephalus, Bru...	ORPHA:536467
Constricting Bands, Congenital	Ectopia cordis	OMIM:217100
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydroceph...	ORPHA:3412
Opitz-Kaveggia Syndrome	Short stature, Hydrocephalus, Hypospadias, Partial agenesis of the corpus callosum, Abnormal hear...	OMIM:305450
Alexander Disease	Sudden cardiac death, Hypotension, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Hypert...	ORPHA:58
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Chiari malformation, Abnormal subclavian artery morphology, Postnatal growth retardation, Patent ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Chiari malformation, Abnormal subclavian artery morphology, Postnatal growth retardation, Patent ...	ORPHA:353277
Kabuki Syndrome 1	Premature thelarche, Hemolytic anemia, Lateral ventricle dilatation, Ventricular septal defect, S...	OMIM:147920
Fontaine Progeroid Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Tricuspid regurgitation, Short stature...	OMIM:612289
Pmm2-Cdg	Hepatic fibrosis, Abnormal liver parenchyma morphology, Aplasia of the ovary, Cerebellar hypoplas...	ORPHA:79318
Monosomy 9Q22.3	Chiari malformation, Ventriculomegaly, Hydrocephalus, Cardiac fibroma, Ovarian fibroma	ORPHA:77301
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal heart morphology	OMIM:239300
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Growth delay, Short stature, Telangiectasia of the skin	OMIM:616007
Posterior Meningocele	Meningocele, Chiari malformation, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipom...	ORPHA:268810
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Precocious puberty, Ventricular septal defect, Cerebral hemorrhage, Cry...	OMIM:616682
Kabuki Syndrome	Precocious puberty, Ventriculomegaly, Abnormal cardiac septum morphology, Short stature, Hydrocep...	ORPHA:2322
Cousin Syndrome	Rhizomelia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydrocephalus, Hydranencephal...	OMIM:260660
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Patent foramen ovale, Lateral ventricle dilatation, Short stature, Exte...	ORPHA:177907
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ventricular septal defect, Agenesis of corpus callosum, Coarctation of aorta	ORPHA:268249
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc...	ORPHA:63259
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus, Short stature	ORPHA:220295
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Ventricular septal defect, Bifid scrotum, Heart murmur, Bicuspid aortic valve, ...	OMIM:619475
Mend Syndrome	Short stature, Hydrocephalus, Abnormal heart morphology, Cryptorchidism, Aortic valve stenosis, D...	ORPHA:401973
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Cerebellar hemisphere hypoplasia, Patent ductus arteriosus after birth at ter...	ORPHA:500150
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Ventricular septal defect, Short stature, Hydrocephalus, Atrial septal ...	OMIM:300373
Peters-Plus Syndrome	Patent ductus arteriosus, Bilobate gallbladder, Ventriculomegaly, Hypoplasia of the vagina, Ventr...	OMIM:261540
Absent Radius-Anogenital Anomalies Syndrome	Rectovaginal fistula, Hydrocephalus, Perineal fistula	ORPHA:3016
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse, Hydrocephalus	OMIM:104350
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Simpson-Golabi-Behmel Syndrome, Type 1	Patent ductus arteriosus, Cardiomyopathy, Ventricular septal defect, Transposition of the great a...	OMIM:312870
Achondroplasia	Hydrocephalus, Rhizomelia, Neonatal short-limb short stature	OMIM:100800
Oeis Complex	Absent scrotum, Myelomeningocele, Chiari malformation, Vesicovaginal fistula, Ambiguous genitalia...	OMIM:258040
Roberts-Sc Phocomelia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicornuate uterus, Enlarged labia minora, Hy...	OMIM:268300
Lenz-Majewski Hyperostotic Dwarfism	Hypogonadism, External genital hypoplasia, Hydrocephalus, Epispadias, Severe short stature, Hypos...	ORPHA:2658
Baller-Gerold Syndrome	Chiari malformation, Short stature, Hydrocephalus, Perineal fistula, Anomalous splenoportal venou...	OMIM:218600
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Neutropenia, Megaloblastic anemia, Hydrocephalus	OMIM:277400
Raine Syndrome	Neonatal death, Hydrocephalus, Short stature	OMIM:259775
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Heart murmur, Short stature, Enlarged kidney, Mit...	OMIM:615873
Mend Syndrome	Short stature, Hydrocephalus, Cryptorchidism, Aortic valve stenosis, Dandy-Walker malformation	OMIM:300960
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation	OMIM:607485
Mohr Syndrome	Hydrocephalus, Short stature	OMIM:252100
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ho...	OMIM:610828
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Ventricular septal defect, Aqueductal stenosis, Bicornuate uterus, Shor...	OMIM:154400
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Peters Plus Syndrome	Patent ductus arteriosus, Ventriculomegaly, Abnormal cardiac septum morphology, Rhizomelia, Short...	ORPHA:709
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Lateral ventricle dilatation	ORPHA:2822
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypertension, Atrial ...	OMIM:300896
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, Ovarian carcinoma, Ovarian fib...	OMIM:109400
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Hydrocephalus	ORPHA:2736
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature, Hydrocephalus, Hypospadias, C...	OMIM:102500
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Chiari malformation, Short stature, Agenesis of corpus callosum, Hydroc...	OMIM:264090
Hypoplasminogenemia	Abnormal fallopian tube morphology, Abnormality of the ovary, Hydrocephalus, Cervicitis, Dandy-Wa...	ORPHA:722
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Bicornuate uterus, Hydrocephalus, Abnormality of the thymus, Vag...	OMIM:219000
6Q Terminal Deletion Syndrome	Phimosis, Hypospadias, Colpocephaly, Cerebellar hypoplasia	ORPHA:75857
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, ...	OMIM:607872
Neurofibromatosis, Type I	Aqueductal stenosis, Short stature, Spina bifida, Hydrocephalus, Hypertension, Renal artery stenosis	OMIM:162200
Neurofibromatosis Type 1	Precocious puberty, Short stature, Hydrocephalus, Hypertension, Arterial stenosis, Delayed pubert...	ORPHA:636
Wiedemann-Rautenstrauch Syndrome	Short stature, Cerebellar hypoplasia, Hydrocephalus, Prominent scalp veins, Intrauterine growth r...	ORPHA:3455
Holoprosencephaly 9	Short stature, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus callosum, Cryptor...	OMIM:610829
Exstrophy-Epispadias Complex	Female sexual dysfunction, Absent penis, Bifid scrotum, Spina bifida, Penoscrotal transposition, ...	ORPHA:322
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Cryptorchidism, Tricuspid val...	ORPHA:261337
Alobar Holoprosencephaly	Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Neural tube defect, Hydrocephalus, Abnormal heart rate variability, Abnormal heart...	ORPHA:220386
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Lateral ventricle dilatation, Short stature, Hypertension, Congesti...	OMIM:181270
Fetal Akinesia Deformation Sequence 1	Cerebellar hypoplasia, Hydrocephalus, Stillbirth, Cryptorchidism, Intrauterine growth retardation	OMIM:208150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus	OMIM:253280
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Hypogonadism, Short stature, Bilateral cryptorchidism, Hydrocephalus	ORPHA:3042
Microphthalmia With Limb Anomalies	Short stature, Arrhinencephaly, Hydrocephalus, Venous insufficiency, Cryptorchidism	ORPHA:1106
Floating-Harbor Syndrome	Precocious puberty, Atrial septal defect, Mesocardia, Cryptorchidism, Tetralogy of Fallot	ORPHA:2044
Campomelic Dysplasia	Spinal dysraphism, Sex reversal, Spina bifida, Hydrocephalus, Hypospadias, Disproportionate short...	OMIM:114290
Choreoacanthocytosis	Elevated circulating alanine aminotransferase concentration, Lateral ventricle dilatation, Abnorm...	ORPHA:2388
Floating-Harbor Syndrome	Mesocardia, Atrial septal defect, Cryptorchidism	OMIM:136140
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Abnormal cerebellum morphology	ORPHA:637
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Ventricular septal defect, Short stature, Mitral valve prolapse, Hydrocepha...	ORPHA:363700
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Focal Dermal Hypoplasia	Telangiectasia, Myelomeningocele, Chiari malformation, Short stature, Hydrocephalus, Labial hypop...	OMIM:305600
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Hydrocephalus, Atrial septal defect, Hypospadias, Stillbirth, Crypto...	OMIM:304120
Genitopatellar Syndrome	Ventricular septal defect, Enlarged labia minora, Agenesis of corpus callosum, Labial hypoplasia,...	OMIM:606170
Split Cord Malformation	Meningocele, Myelomeningocele, Chiari malformation, Hydrocephalus, Hypospadias, Cervical spina bi...	ORPHA:573278
Townes-Brocks Syndrome 1	Ventricular septal defect, Bifid scrotum, Hydrocephalus, Rectoperineal fistula, Atrial septal def...	OMIM:107480
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Craniofacial Microsomia	Patent ductus arteriosus, Chiari malformation, Ventricular septal defect, Hydrocephalus, Coarctat...	OMIM:164210

Histopathology

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

There is no histopathology data for Odad3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Odad3.

No publications found that use IMPC mice or data for Odad3.

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MGI Allele	Allele Type	Produced
Odad3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Odad3^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Odad3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Odad3 MGI:1924859

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Odad3 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data