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Gene: Odad3 MGI:1924859

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Gene Summary

Name:
outer dynein arm docking complex subunit 3
Synonyms:
b2b1885Clo,  C330001K17Rik,  Ccdc151

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Odad3tm1b(EUCOMM)Hmgu HOM   Early adult 7.64×10-05
impaired glucose tolerance Odad3tm1b(EUCOMM)Hmgu HET Early adult 2.07×10-05
abnormal bone structure Odad3tm1b(EUCOMM)Hmgu HET Early adult 3.76×10-05
decreased bone mineral density Odad3tm1b(EUCOMM)Hmgu HET   Early adult 8.03×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 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.

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
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Respiratory insufficiency due to... OMIM:616037
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal sperm motility, Female infertility, Polysplenia, Atrial situs ambiguou... ORPHA:244

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:611884
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Ciliary dyskinesia OMIM:608644
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Ciliary Dyskinesia, Primary, 24
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia OMIM:615481
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:615451
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:614017
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Ciliary dyskinesia OMIM:615872
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia OMIM:613193
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia OMIM:614679
Ciliary Dyskinesia, Primary, 25
Polysplenia, Immotile cilia, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia OMIM:615482
Ciliary Dyskinesia, Primary, 18
Immotile cilia, Abdominal situs ambiguus, Situs inversus totalis, Respiratory insufficiency due t... OMIM:614874
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia OMIM:612518
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:615504
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Reduced respiratory ciliary beating frequency, Atrioven... OMIM:618300
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:615505
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Immotile cilia, Situs inversus tota... OMIM:615500
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Respiratory insufficiency due to... OMIM:616037
Ciliary Dyskinesia, Primary, 38
Immotile cilia, Situs inversus totalis, Dextrocardia OMIM:618063
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia OMIM:616481
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Situs inversus totalis, Dextrocardia, Respiratory insufficiency due to defective ... OMIM:615444
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia OMIM:606763
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Situs inversus tota... OMIM:614935
Ciliary Dyskinesia, Primary, 14
Polysplenia, Situs inversus totalis, Heterotaxy, Abnormal ciliary motility, Ciliary dyskinesia OMIM:613807
Mirror Movements 3
Situs inversus totalis OMIM:616059
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Ciliary dyskinesia OMIM:620197
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Ciliary dyskinesia OMIM:612444
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal sperm motility, Female infertility, Polysplenia, Atrial situs ambiguou... ORPHA:244
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Ciliary dyskinesia OMIM:612650
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Ri... OMIM:620642
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Abdominal situs inversus, Atrioventricular canal defect, Polysplenia, Situ... OMIM:605376
Ciliary Dyskinesia, Primary, 1
Male infertility, Situs inversus totalis, Asplenia, Communicating hydrocephalus, Absent outer dyn... OMIM:244400
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Situs inversus totalis, Dextrocardia, Goiter OMIM:617577
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:608647
Hypoglossia With Situs Inversus
Asplenia, Situs inversus totalis, Polysplenia OMIM:612776
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressive sperm motility, Short ... OMIM:620438
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Bardet-Biedl Syndrome 8
Hypogonadism, Situs inversus totalis OMIM:615985
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia OMIM:610852
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Growth delay, Cervical lymphadenopathy, Elevated circulat... OMIM:614034
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thiamine-responsive... OMIM:249270
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Gout, Osteoporosis, Impaired glucose tolerance OMIM:610947
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia OMIM:619436
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Purpura, Short stature ORPHA:3204
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Ciliary dyskinesia OMIM:613808
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Abnormal heart morphology, A... ORPHA:1666
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia OMIM:615294
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations OMIM:116860
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... OMIM:306955
Osteoporosis
Osteoporosis OMIM:166710
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, S... OMIM:267010
Ciliary Dyskinesia, Primary, 45
Immotile cilia OMIM:618801
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... OMIM:185070
Chudley-Mccullough Syndrome
Ventriculomegaly, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydroc... OMIM:604213
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Mitral atresia, Atrioventricular canal defe... OMIM:616749
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Gracile Bone Dysplasia
Ascites, Micropenis, Hydrocephalus, Short stature, Asplenia, Hypoplastic spleen OMIM:602361
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Venous insufficiency, Polycystic ovaries, Hydrocephalus, Commun... ORPHA:2969
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ve... OMIM:619657
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocytosis, Hypochromi... OMIM:616084
Young Syndrome
Obstructive azoospermia, Decreased fertility, Abnormality of the pancreas ORPHA:3471
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... OMIM:619608
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Ciliary dyskinesia OMIM:612649
Ciliary Dyskinesia With Defective Radial Spokes
Immotile cilia, Ciliary dyskinesia OMIM:242670
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus callos... OMIM:614833
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus, Thrombocytopenia, Hypertension OMIM:166990
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism, Ciliary dyskinesia OMIM:225050
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Polysplenia, Atrioventricular canal defect, Dextrotransp... OMIM:613751
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Chiari ... OMIM:613686
Hec Syndrome
Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Vaginal hydrocele, Communicating hydrocep... ORPHA:2119
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef... OMIM:270100
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Atrial septal defect,... OMIM:615219
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus ORPHA:2703
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Abdominal situs inversus, Atrioventricular canal defect, Cryptorchi... OMIM:619123
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Mosaic Trisomy 9
Ventriculomegaly, Hypoplastic female external genitalia, Abnormality of the uterus, Abnormal hear... ORPHA:99776
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Postnatal growth retardation, He... ORPHA:168577
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Situs inversus totalis, Atrial septal defect OMIM:619881
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Pa... OMIM:610333
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia OMIM:616726
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Short stature, Growth delay OMIM:614019
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency OMIM:617091
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Ciliary dyskinesia ORPHA:1882
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis OMIM:617092
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Azoospermia, Hepatic steatos... OMIM:615703
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Splenic cyst, Ovarian cyst, Stroke, Communicating hydrocephalus, Patent ductus ... OMIM:618188
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Brain Small Vessel Disease 2
Ventriculomegaly, Growth delay, Intracranial hemorrhage OMIM:614483
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Abdominal situs inversus, Atria... OMIM:617205
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia, Communicating hydrocephalus, Short stature ORPHA:2268
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Encephalocele, Congenital hepatic fibrosis, Cryptorchid... ORPHA:564
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Communicating hydrocephalus ORPHA:1861
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Agenesis of corpus callosum, Ventricular se... ORPHA:1780
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Pseudo-Torch Syndrome 2
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Secundum atrial septal... OMIM:617397
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Mitral valve prolapse, Hydrocephalus, Short stature, Hypergonadotropic hypogonadism ORPHA:2183
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhage, Communicating hy... ORPHA:25
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Hypopl... ORPHA:990
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Meckel Syndrome, Type 1
Occipital encephalocele, Chiari malformation, Cryptorchidism, Agenesis of corpus callosum, Bile d... OMIM:249000
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Chiari malformation, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sep... OMIM:265380
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Cole-Carpenter Syndrome 1
Short stature, Communicating hydrocephalus, Hydrocephalus OMIM:112240
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... ORPHA:85212
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Colpocephaly, Decreased liver function, Neonatal death OMIM:614870
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal morpholo... ORPHA:991
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Cryptorchidism, Dextrocardia ORPHA:2863
Mucopolysaccharidosis Type 2
Growth delay, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnorma... ORPHA:580
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice, Hypertension OMIM:613095
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Congenital Toxoplasmosis
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine ... ORPHA:858
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Decreased testicular size, Azoospermia, Ischemic str... ORPHA:280679
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Communicating hydrocephalus ORPHA:1064
Agnathia-Otocephaly Complex
Holoprosencephaly, Secundum atrial septal defect, Situs inversus totalis, Agenesis of corpus call... OMIM:202650
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Cole-Carpenter Syndrome
Short stature, Intrauterine growth retardation, Communicating hydrocephalus ORPHA:2050
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Thrombocytopenia, Anemia, Part... OMIM:619302
Mirage Syndrome
Hypospadias, Microphallus, Lymphopenia, Leukopenia, Intrauterine growth retardation, Decreased te... OMIM:617053
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Chiari malformation, Mitral regurgitation, Abnormal aortic valve morphology, Mi... ORPHA:2462
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Thromb... OMIM:619301
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Abnormal cerebellum morphology,... ORPHA:97339
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia OMIM:618067
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Hepatic failure, Prolonged bleeding followi... ORPHA:331
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Chiari malformation, Cerebellar atrophy, Pancytopenia, Hepatosplenomegaly, ... ORPHA:309282
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Agenesis of cerebellar vermis, Decreased testicular si... OMIM:615287
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Cereb... ORPHA:488635
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Congestive heart failure, Azoospermia, Agenesis of corpus callosum, Ambiguous ge... ORPHA:261519
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele, Cerebellar vermis hypoplasia ORPHA:475
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Ventricula... OMIM:620210
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Bardet-Biedl Syndrome 17
Hypogonadism, Situs inversus totalis, Dextrocardia OMIM:615994
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Dandy-Walker Syndrome
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Coach Syndrome 2
Hepatic fibrosis, Cerebellar vermis hypoplasia, Portal fibrosis, Elevated circulating hepatic tra... OMIM:619111
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Cerebellar hypoplasia, Asplenia, Patent ductus ar... OMIM:617746
Congenital Disorder Of Glycosylation, Type Iid
Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, Dandy-Walker malfor... OMIM:607091
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Male hypogonadism, Premature ovarian insufficiency, Chronic ... OMIM:240300
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Abnormal bleeding, Hydrocephalus OMIM:300884
Marden-Walker Syndrome
Severe short stature, Hypospadias, Abnormal penis morphology, Intrauterine growth retardation, Si... ORPHA:2461
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... OMIM:300845
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebellar vermis hypoplasia, Sub... OMIM:618291
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Gómez-López-Hernández Syndrome
Short stature, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus ORPHA:1532
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Deleted in azoospermia
Azoospermia OMIM:400003
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Stroke, Lymphadenopathy, Autoi... ORPHA:444463
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hepatosplenomegaly, Lymp... ORPHA:464329
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Poland Syndrome
Dextrocardia OMIM:173800
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Cerebellar vermis hypoplasia, Hepatic failure, Cholestasis, S... OMIM:615630
Nephronophthisis 2
Pulmonary insufficiency, Situs inversus totalis, Hypertension, Enlarged kidney OMIM:602088
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Cerebral vasculitis, Transient ischemic attack, Stroke, Intra... ORPHA:140989
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Cholestasis, Congenital h... OMIM:619534
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
47,Xyy Syndrome
Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Cryptorchidis... ORPHA:8
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Growth delay, Agenesis of cerebellar vermis, Encephalocele, Ventric... OMIM:614424
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Neurocutaneous Melanocytosis
Ventriculomegaly, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Meningocele, Intracr... ORPHA:2481
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Aplastic anemia, Hepatic failu... ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Agenesis of corp... OMIM:613153
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Cerebellar vermis hypoplasia, Intrauterine growth retardation, Cryptorchidism, Patent ... OMIM:619841
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias, Hydrocephalus, Cryptorchidism ORPHA:250994
Sneddon Syndrome
Lymphopenia, Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Hypertension OMIM:182410
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, Vacuo... OMIM:269920
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Splenomegaly, Increased CSF interferon alpha, Thrombocytopenia, ... OMIM:615010
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Cerebellar hypoplasia, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Distal 7Q11.23 Microduplication Syndrome
Chiari malformation, Cryptorchidism, Aortic aneurysm, Hydrocephalus, Frontal encephalocele, Paten... ORPHA:261102
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Azoospermia, Amenorrhea, Short stature, Infertility, Holoprosencephaly ORPHA:1445
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormality of the menstrual cycle, Spleno... ORPHA:721
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Abnormal cerebellar cortex morphology, ... ORPHA:31825
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus, Cerebellar atrophy OMIM:617011
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Hydrocephalus, Hepatomegaly,... ORPHA:163596
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Gm1-Gangliosidosis, Type Iii
Ventriculomegaly, Cherry red spot of the macula, Splenomegaly, Foam cells, Hepatomegaly, Short st... OMIM:230650
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Cer... OMIM:614576
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Cach Syndrome
Cerebellar atrophy, Lateral ventricle dilatation, Gonadal dysgenesis, Cerebellar vermis atrophy, ... ORPHA:135
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilata... OMIM:620371
Congenital Hydrocephalus
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Cerebellar hypoplasia, Congenital thrombocytopenia, Ce... OMIM:618886
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Abnormal cardiovascular system ... ORPHA:168569
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility ORPHA:276183
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Left ventricular hypertrophy, Adrenal hyperplasia, Glucocortocoid-ins... ORPHA:251274
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Hydrocephalus, Pa... OMIM:304100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Cardiomyopathy, Cerebellar dysplasia, Cerebellar hypoplasia, Hydroc... OMIM:613155
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy OMIM:613909
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Tetralogy of ... ORPHA:3426
Ellis Van Creveld Syndrome
Acute leukemia, Neonatal short-limb short stature, Abnormal morphology of female internal genital... ORPHA:289
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Mitral valve prolapse, Ventricular septal defect, Micropenis, Left superior v... OMIM:602782
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Chiari ... OMIM:218350
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebellar hypoplasia, Ventriculomegaly, Communicating hydrocephalus, Micropenis ORPHA:457359
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus OMIM:614830
Fetal Cytomegalovirus Syndrome
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterin... ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Foam cells with lamellar inclusion bodies, Splenomegaly, Anemia, Thromboc... OMIM:607616
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Cerebellar hemorrhage, Anemia, Pancreatitis, Neutropenia, Thrombocy... OMIM:606054
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Decreased testicular size, Azoospermia, Decreased female lib... ORPHA:52901
Pseudoaminopterin Syndrome
Cryptorchidism, Patent foramen ovale, Hydrocephalus, Short stature, Asplenia ORPHA:221120
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Hyperaldosteronism, Adrenal hyperplasia, Ventricular septal defect, Abno... ORPHA:369929
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Cerebellar vermis atrophy, Splenome... OMIM:616719
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Truncus arte... OMIM:601186
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Short stature, Hypos... ORPHA:141333
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defe... OMIM:164280
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Growth delay, Splenomegaly ORPHA:79238
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
48,Xxyy Syndrome
Ventriculomegaly, Decreased testicular size, Azoospermia, Cryptorchidism, Infertility, Hypoplasia... ORPHA:10
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombo... ORPHA:49566
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemophilia B
Menometrorrhagia, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneou... ORPHA:98879
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hypogonadism, Hepatosplenomegaly, Azoosp... ORPHA:300298
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Ventricular septal defect, Atrial septal defect, Short stature, Hyp... OMIM:618330
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebellar atrophy, Increased CSF lactate, Intrauterine growth retardation, Inc... OMIM:616034
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Encephalocele, Splenomegaly, Hydroce... ORPHA:381
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Ventriculomegaly, Chiari type I malformation, Intraventricular hemorrhage ORPHA:401986
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hypospadias, Absent gallbladder, Cryptorchidism, Ventricular septal defe... ORPHA:163979
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Splenomegaly, Cerebel... ORPHA:79332
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Ring Chromosome 7 Syndrome
Ventriculomegaly, Hypogonadism, Abnormal cerebellum morphology, Situs inversus totalis, Severe in... ORPHA:1449
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:231393
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Vascular dilatation, Partial abse... OMIM:220220
Tetraamelia Syndrome 1
Absent external genitalia, Hydrocephalus, Vaginal atresia, Asplenia, Hypoplasia of the fallopian ... OMIM:273395
8P11.2 Deletion Syndrome
Growth delay, Hypogonadism, Azoospermia, Splenomegaly, Mitral valve prolapse, Cryptorchidism, Hyp... ORPHA:251066
49,Xyyyy Syndrome
Ventriculomegaly, Abnormality of the testis size, Male hypogonadism, Decreased testicular size, E... ORPHA:99330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature ORPHA:172
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Bacteria... ORPHA:2072
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebellar dentate nucleus calcification, Cerebral hemorrhage ORPHA:542310
Renpenning Syndrome
Severe short stature, Growth delay, Decreased testicular size, Heterotaxy, Hypospadias ORPHA:3242
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormal cardiac septum morphology, Dextrocardia, Anemia, Diab... ORPHA:2315
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Cryptorchidism, Dextrocardia, Supernumerary nipple OMIM:618929
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Isomerism, Transposition of the great arteries, Dextrocardia OMIM:314390
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec... OMIM:614294
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration... OMIM:608836
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia OMIM:243500
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Ventricular sept... OMIM:608978
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Menometrorrhagia, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure OMIM:300886
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Atrial septal ... OMIM:264480
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ... ORPHA:2585
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Young Syndrome
Azoospermia OMIM:279000
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Ventricular septal... OMIM:611134
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Growth delay ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,... OMIM:615631
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Purpura, Epid... ORPHA:99827
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Abnorma... ORPHA:1926
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Pseudo-Torch Syndrome 1
Increased CSF protein concentration, Ventriculomegaly, Elevated circulating hepatic transaminase ... OMIM:251290
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Myocardial eosinophilic infiltration, Neutrophilia, Myeloprol... ORPHA:3260
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the pons, Intraventricular hemorrhage, Short ... OMIM:616430
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Lateral ventricle dilatation, Bilateral cryptorchidism OMIM:300982
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Bruising susceptibility, Abnormal cerebral vascular morphology... ORPHA:3318
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopathy, Dilated fourth... ORPHA:370959
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Dextrocardia, Ventricular septal defect ORPHA:96097
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Hydrocephalus, Cerebellar hypoplasia OMIM:618174
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Alexander Disease
Abnormal dentate nucleus morphology, Increased CSF protein concentration, Hydrocephalus OMIM:203450
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Short stature, Cerebellar cyst, Bicornuate uterus OMIM:601076
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Cerebellar atrophy, Splenomegaly, Hydrocep... OMIM:272200
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:618266
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia ORPHA:2257
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Increased hematocrit, Increased red blood cell mass, Stroke, Increas... OMIM:263400
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Dilation of Virchow... OMIM:619517
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus ORPHA:352682
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Anemia, Megaloblastic anemia, Atrial septal defect, Neutropenia, Dextrocardia, Hepa... OMIM:277380
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Cryptorchidism, Ventricular septal defect OMIM:616816
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin... OMIM:620300
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hypertension, Hydrocephalus OMIM:615862
Triploidy
Abnormality of the gallbladder, Intrauterine growth retardation, Cryptorchidism, Ambiguous genita... ORPHA:3376
Scimitar Syndrome
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... ORPHA:185
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia ORPHA:261197
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Increased CSF lactate, Abnormal CSF pyruvate fami... ORPHA:79243
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Kleeblattschaedel
Hydrocephalus OMIM:148800
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Hypophosphatasia, Infantile
Anemia, Intracranial hemorrhage, Disproportionate short-limb short stature, Stillbirth OMIM:241500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Leukopenia, Cerebellar hemorrhage, Pancreatitis, Neutropenia, Thrombocytopenia, H... OMIM:251000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst OMIM:615181
Aspergillosis
Hepatitis, Stroke, Eosinophilia, Neutropenia, Intracranial hemorrhage ORPHA:1163
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Immunodeficiency 54
Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,... OMIM:609981
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Lateral ventricle dilatation, Enlarged cerebellum, Cryptorchidism, Agenesi... ORPHA:261537
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Short stature OMIM:612526
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Arteriosclerosis ORPHA:75234
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Lissencephaly 5
Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Occipital encephalocele, Hydrocep... OMIM:615191
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Hypogonadism, Intrauterine growth retardation, Ventricular sep... OMIM:300514
Alg2-Cdg
Hepatomegaly, Lateral ventricle dilatation ORPHA:79326
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Abnormal erythrocyte morphology,... ORPHA:324636
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami... OMIM:243800
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Hepatic foam c... OMIM:278000
Marden-Walker Syndrome
Cryptorchidism, Dextrocardia OMIM:248700