Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Odad3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Abnormal ciliary motility, Dextrocardia, Situs inversus totalis OMIM:611884
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Ciliary dyskinesia OMIM:608644
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Ciliary dyskinesia, Immotile cilia OMIM:615481
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary cl... OMIM:615451
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Abnormal ciliary motility, Situs inversus totalis OMIM:614017
Ciliary Dyskinesia, Primary, 29
Situs inversus totalis, Ciliary dyskinesia OMIM:615872
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Ciliary dyskinesia, Immotile cilia OMIM:613193
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Ciliary dyskinesia, Dextrocardia OMIM:614679
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Immotile cilia, Polysplenia OMIM:615482
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614874
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia OMIM:612518
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary cl... OMIM:615504
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Situs inversus totalis, Atrioventricular canal def... OMIM:618300
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary cl... OMIM:615505
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary cl... OMIM:615500
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:616037
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Immotile cilia OMIM:618063
Ciliary Dyskinesia, Primary, 32
Situs inversus totalis, Ciliary dyskinesia, Immotile cilia OMIM:616481
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615444
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Ciliary dyskinesia, Dextrocardia, Immotile cilia OMIM:606763
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary cl... OMIM:614935
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy, Ciliary dyskinesia, Abnormal ciliary motility, Polysplenia 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, Diabetes mellitus, Ectopic ossification OMIM:602475
Primary Ciliary Dyskinesia
Situs inversus totalis, Male infertility, Transposition of the great arteries, Hydrocephalus, Abn... ORPHA:244
Right Atrial Isomerism
Situs inversus totalis, Right atrial isomerism, Transposition of the great arteries, Dextrocardia... OMIM:208530
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:614779
Ciliary Dyskinesia, Primary, 12
Situs inversus totalis, Ciliary dyskinesia OMIM:612650
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Cardi... OMIM:620642
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Situs inversus totalis, Hepatomegaly, Enlarged kidney, Truncus arteriosus, Cholestasi... OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Heterotaxy, Visceral, 2, Autosomal
Abdominal situs inversus, Situs inversus totalis, Transposition of the great arteries, Atrioventr... OMIM:605376
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Absent outer dynein arms, Male infertility, Communicating hydrocephalus, ... OMIM:244400
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Dextrocardia, Situs inversus totalis OMIM:617577
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary cl... OMIM:608647
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo... 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
Situs inversus totalis, Hypogonadism OMIM:615985
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Abnormal ciliary motility OMIM:610852
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Hypertension, Elevated circulating alanine aminotransferase concen... OMIM:614034
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Short stature, Sideroblastic anem... OMIM:249270
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus, Gout, Glucose intolerance OMIM:610947
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia OMIM:619436
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Purpura, Anemia, Asplenia ORPHA:3204
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Ciliary dyskinesia OMIM:613808
Nephronophthisis 16
Situs inversus totalis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic s... 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, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:607941
Dextrocardia
Situs inversus totalis, Dextrocardia, Hydrocephalus, Pancreatic hypoplasia, Abnormality of abdomi... 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
Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial... OMIM:306955
Osteoporosis
Osteoporosis OMIM:166710
Meckel Syndrome, Type 7
Situs inversus totalis, Dandy-Walker malformation, Choroid plexus cyst, Cholestasis, Biliary cirr... OMIM:267010
Ciliary Dyskinesia, Primary, 45
Immotile cilia OMIM:618801
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Stormorken Syndrome
Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Short stature, Stroke-like episode, Hyp... OMIM:185070
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Pulmonary artery ... ORPHA:1908
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:604213
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Sple... OMIM:602390
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Gracile Bone Dysplasia
Hydrocephalus, Ascites, Asplenia, Short stature, Hypoplastic spleen, Micropenis OMIM:602361
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Proteus-Like Syndrome
Venous insufficiency, Hydrocephalus, Communicating hydrocephalus, Splenomegaly, Thymus hyperplasi... ORPHA:2969
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Ventric... OMIM:619657
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Communicating hydrocephalus, Gr... OMIM:616084
Young Syndrome
Obstructive azoospermia, Decreased fertility, Abnormality of the pancreas ORPHA:3471
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Primum atrial septal defect, Polys... OMIM:619608
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Immotile cilia OMIM:612649
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Immotile cilia OMIM:242670
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Situs inversus totalis, Cerebellar atrophy, Short stature, Agenesis o... OMIM:614833
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Hypertension, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism, Ciliary dyskinesia OMIM:225050
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Ectopia of the ... OMIM:613751
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Spina bifida occulta, Aplasia of posterior communicating ar... OMIM:613686
Hec Syndrome
Cardiomyopathy, Communicating hydrocephalus, Arrhythmia, Vaginal hydrocele, Endocardial fibroelas... ORPHA:2119
Heterotaxy, Visceral, 5, Autosomal
Cerebellar atrophy, Intrauterine growth retardation, Right atrial isomerism, Ascending tubular ao... OMIM:270100
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Agenesis of c... OMIM:615219
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Cerebellar vermis hypoplasia, Asplenia, Pulmonic stenosis, Cryptor... OMIM:619123
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615067
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal liver lobulation, Dextrocardia, Hypoplasia of pen... ORPHA:99776
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Jaundice, Spontaneous hemolytic crises, Communicating hydrocephalus... ORPHA:168577
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus, Patent ductu... ORPHA:2184
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hydrocephalu... OMIM:610333
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia OMIM:616726
Lissencephaly 4
Growth delay, Short stature, Colpocephaly, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia, Communicating hydrocephalus 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
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Premature coronary artery atherosclerosis, Azoospermia, Hypertension, I... OMIM:615703
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Abdominal situs ambiguus OMIM:617092
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Stroke, Communicating hydrocephalus, Ovarian cyst, Patent ductus a... OMIM:618188
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Brain Small Vessel Disease 2
Growth delay, Ventriculomegaly, Intracranial hemorrhage OMIM:614483
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Icf Syndrome
Anemia, Communicating hydrocephalus, Short stature, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Meckel Syndrome
Situs inversus totalis, Anencephaly, Encephalocele, Accessory spleen, Hydrocephalus, Dandy-Walker... ORPHA:564
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Thoracic Dysplasia-Hydrocephalus Syndrome
Short stature, Communicating hydrocephalus ORPHA:1861
Thakker-Donnai Syndrome
Transposition of the great arteries, Rectovaginal fistula, Communicating hydrocephalus, Tetralogy... ORPHA:1780
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cerebellar hypoplasia, Bra... OMIM:617397
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Short stature, Mitral valve prolapse ORPHA:2183
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Retinal hemorrhage, Communicating hydrocephalus, Ventriculomegaly, Subdural... ORPHA:25
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Hypoplasia of penis, Holoprosencephaly, Agenesis of corpus callosum, Apla... ORPHA:990
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Occipital encephalocele, Anencephaly, Splenomegaly, Intrauterine growt... OMIM:249000
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia ORPHA:1538
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia 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
Dysplastic tricuspid valve, Bicuspid aortic valve, Ventriculomegaly, Misalignment of the pulmonar... OMIM:265380
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Cole-Carpenter Syndrome 1
Short stature, Hydrocephalus, Communicating hydrocephalus OMIM:112240
Fetal Gaucher Disease
Stillbirth, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the sple... ORPHA:85212
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Splenic rupture, Joint hemorrhage, Intracrani... ORPHA:98878
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Neonatal death, Colpocephaly, Hepatomegaly OMIM:614870
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia, Thrombocytopenia OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Pagod Syndrome
Situs inversus totalis, Encephalocele, Agonadism, Meningocele, Abnormal aortic morphology, Abnorm... ORPHA:991
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Dextrocardia, Anterior hypopituitarism ORPHA:2863
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Hypertension,... ORPHA:580
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Abnormal platelet... OMIM:273800
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hypertension, Hepatic cysts OMIM:613095
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Communicating hydrocephalus ORPHA:1064
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Delayed puberty, Coronary artery atherosclerosis, Azoosperm... ORPHA:280679
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Holoprosencephaly, Agenesis of corpus call... OMIM:202650
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Communicating hydrocephalus ORPHA:2050
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Mirage Syndrome
Anemia, Patent ductus arteriosus, Hypospadias, Petechiae, Hydrocephalus, Hypergonadotropic hypogo... OMIM:617053
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia, Agenesis of corpus callosum, Cerebe... OMIM:619302
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia OMIM:123155
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Communicating hydrocephalus, Mitral valve prolapse, Chiari malf... ORPHA:2462
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Hypoplasia of the pons, Thrombocytopenia, Agenesis of corpus ... OMIM:619301
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Neutropenia OMIM:618067
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage... ORPHA:36382
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Delayed o... ORPHA:331
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val... OMIM:609008
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Cerebellar atrophy, Communicating hydrocephalus, Hepatospleno... ORPHA:309282
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricula... ORPHA:216694
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
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hydrocephalus, Increased CSF l... ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Cerebellar hemisp... OMIM:615287
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Cerebellar atrophy, Growth delay, Intrauterine growth reta... ORPHA:488635
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Azoospermia, Short stature, Agenesis of corpus callosum, Ambiguous geni... ORPHA:261519
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Metrorrhagia, Post-partum hemorrhage, Gingiva... ORPHA:326
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Cerebellar vermis hypoplasia, Encephalocele ORPHA:475
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Coarctation of aorta, Leukopenia, Sple... OMIM:620210
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Hypogonadism OMIM:615994
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Dandy-Walker Syndrome
Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebe... OMIM:220200
Coach Syndrome 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Cerebell... OMIM:619111
Sweeney-Cox Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Asplenia, Patent ductus arteriosus, Cerebellar hy... OMIM:617746
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concent... OMIM:607091
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, A... OMIM:240300
Severe Hemophilia A
Gastrointestinal hemorrhage, Cephalohematoma, Anemia, Epidural hemorrhage, Subdural hemorrhage, P... ORPHA:169802
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal bleeding, Hepatomegaly OMIM:300884
Marden-Walker Syndrome
Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hyposp... ORPHA:2461
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Postnatal growth retardation, Abnormal left ventricle morphology, Premature ... OMIM:300845
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation,... OMIM:618291
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Gómez-López-Hernández Syndrome
Short stature, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus ORPHA:1532
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Deleted in azoospermia
Azoospermia OMIM:400003
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Stroke, Splenomegaly, Lymphopenia, Autoimmune throm... ORPHA:444463
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormality of the lymphatic sys... ORPHA:464329
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin... OMIM:613313
Poland Syndrome
Dextrocardia OMIM:173800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hydrocephalus, Cerebellar vermis hypoplasia, Cholestasis, Short stature, Splenomega... OMIM:615630
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Elevated circu... ORPHA:79301
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Hypertension OMIM:602088
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Abnormal CSF protein... ORPHA:140989
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Menorrhagia, Joint hemo... ORPHA:465
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
47,Xyy Syndrome
Male infertility, Dysgenesis of the cerebellar vermis, Hypospadias, Azoospermia, Hydrocephalus, O... ORPHA:8
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Metrorrhagia, Normocytic anemia, Gastrointestinal hemorrhage, Aortic ... ORPHA:99147
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasi... OMIM:614424
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Splenomegal... OMIM:614480
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Neurocutaneous Melanocytosis
Meningocele, Dandy-Walker malformation, Intracranial hemorrhage, Chiari malformation, Ventriculom... ORPHA:2481
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pan... ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation, Cerebellar dysp... OMIM:613153
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cephalohematoma, Hypospadias, Cerebellar vermis hypoplasia, Patent foramen ovale, Communicating h... OMIM:619841
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
1Q21.1 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Tetralogy of Fallot, Hypospadias ORPHA:250994
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Bicuspid aortic valve OMIM:182410
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Snakebite Envenomation
Abnormal bleeding, Stroke, Gingival bleeding, Cerebral ischemia, Hypotension, Cardiogenic shock, ... ORPHA:449285
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, Ascites, Splenomeg... OMIM:269920
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage OMIM:614514
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Aicardi-Goutieres Syndrome 6
Hepatomegaly, CSF pleocytosis, Increased CSF interferon alpha, Thrombocytopenia, Splenomegaly, In... OMIM:615010
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... ORPHA:853
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... ORPHA:169805
Periventricular Nodular Heterotopia 1
Stroke, Cerebral hemorrhage, Patent ductus arteriosus, Bicuspid aortic valve, Cerebellar hypoplasia OMIM:300049
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Frontal encephaloc... ORPHA:261102
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Short stature, Abnormal heart morphology, Holoprosencephaly, Amenorrhea ORPHA:1445
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Foam cells, Elevated circulating alanine aminotransferase conc... OMIM:269600
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle,... ORPHA:721
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Cerebellar atrophy, Communicating hydrocephalus OMIM:617011
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnorm... ORPHA:163596
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Hypotension, Ascites, Th... ORPHA:99828
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Foam cells, Short stature, Cherry red spot of the macula, Splenomegaly, Ventriculom... OMIM:230650
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Abnormal bleeding, Elevated circulating hepatic transaminase concentrati... OMIM:614576
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Cach Syndrome
Gonadal dysgenesis, Premature ovarian insufficiency, Pancreatitis, Secondary amenorrhea, Cerebell... ORPHA:135
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Retinal arterial tortuosity, Cardiomegaly, Splenic cyst, Hydrocephalus, Hydranencep... OMIM:620371
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly ORPHA:2185
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Cardiomegaly, Cerebellar ... OMIM:618886
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
H Syndrome
Delayed puberty, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physiology, Azo... ORPHA:168569
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia ORPHA:276183
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Glucocortocoid-ins... ORPHA:251274
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Corpus Callosum, Partial Agenesis Of, X-Linked
Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Pa... OMIM:304100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Vitreous hemorrhage, Musc... ORPHA:464321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar vermis hypoplasia, Cardiomyopathy, Cerebellar dysplasia, Cerebellar hyp... OMIM:613155
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonic stenosis, Splenomegaly, Mitral valve prolapse, Cardiomegaly, Histiocytosis, Varicose vei... OMIM:602782
Double Outlet Right Ventricle
Heterotaxy, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Short s... ORPHA:3426
Ellis Van Creveld Syndrome
Acute leukemia, Situs inversus totalis, Epispadias, Atrioventricular canal defect, Neonatal short... ORPHA:289
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Chiari type I malformation, Hydrocephalus, Ventricular septal defect, Short stature,... OMIM:218350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Micropenis, Communicating hydrocephalus ORPHA:457359
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia OMIM:614830
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia... ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Foam cells with lamellar in... OMIM:607616
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Short st... OMIM:606054
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Pseudoaminopterin Syndrome
Hydrocephalus, Patent foramen ovale, Asplenia, Short stature, Cryptorchidism ORPHA:221120
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Ventricular hypertrophy, Adrenal hyperplasia, Hyperaldosteronism, Ven... ORPHA:369929
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Cerebellar vermis atrophy, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosi... OMIM:616719
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Truncus arteriosus, Ventricular septal defect, Pu... OMIM:601186
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Accessory spleen, Interrupted aortic arch, Tricuspid stenosi... OMIM:164280
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Biemond Syndrome Type 2
Delayed puberty, Hypospadias, Hydrocephalus, Short stature, Hypogonadism, Hypogonadotropic hypogo... ORPHA:141333
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Galactose Epimerase Deficiency
Growth delay, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Hepatic failure, Thrombocytopen... ORPHA:49566
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia... ORPHA:300298
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Short stature, Lateral ventricle dilatation, Patent ductus arteriosus, Atrial septal... OMIM:618330
Intellectual Developmental Disorder, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Hypospadias, Cerebellar vermis hypoplasia, Dilated fourth ve... OMIM:617751
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Cerebellar atrophy, Col... OMIM:616034
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Encephalocele, Hydrocephalus, Ascites, Short stature, Bo... ORPHA:381
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage, Ventriculomegaly, Chiari type I malformation ORPHA:401986
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Interrupted aortic arch, Hydrocephalus, Cryptorchidism, Short stature, Throm... ORPHA:163979
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Biemond Syndrome Ii
Short stature, Hydrocephalus OMIM:210350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydroce... ORPHA:79332
Ring Chromosome 7 Syndrome
Situs inversus totalis, Hypospadias, Severe intrauterine growth retardation, Short stature, Abnor... ORPHA:1449
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Dandy-Walker Malformation With Postaxial Polydactyly
Vascular dilatation, Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Dilated fou... OMIM:220220
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Spherocytosis, Short stature, Growth delay, Splenomegaly, Mitra... ORPHA:251066
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Absent external genit... OMIM:273395
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Delayed puberty, Spontaneous, recurrent epistaxis, Splenomegaly, Vent... ORPHA:2072
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Short stature, Splenomegaly ORPHA:172
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Leukoencephalopathy With Calcifications And Cysts
Cerebellar dentate nucleus calcification, Stroke, Cerebral hemorrhage ORPHA:542310
Renpenning Syndrome
Hypospadias, Heterotaxy, Decreased testicular size, Growth delay, Severe short stature ORPHA:3242
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Johanson-Blizzard Syndrome
Anemia, Dextrocardia, Exocrine pancreatic insufficiency, Diabetes mellitus, Abnormality of the pa... ORPHA:2315
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Atrial septal defect, Mesocardia, Partial anomalous pulmonary venous r... OMIM:618280
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Cryptorchidism, Supernumerary nipple, Dextrocardia OMIM:618929
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Isomerism OMIM:314390
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Coronary artery fistula, Ventricular septal defect, Cryptorchidi... OMIM:614294
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele, Cerebellar malformation ORPHA:324416
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ... OMIM:619463
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Antenatal intracerebral hemorrha... OMIM:608836
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:243500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Macroorchidism, Hydrocephalus OMIM:300886
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Menometrorrhagia ORPHA:98880
Meacham Syndrome
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... OMIM:608978
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Atrial septal defect, Ventri... OMIM:264480
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Cerebellar atrophy, Splenomegaly, Acute myelomonocy... ORPHA:2585
Young Syndrome
Azoospermia OMIM:279000
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Bile duct prol... OMIM:611134
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,... ORPHA:99827
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Growth delay, Splenomegaly ORPHA:100025
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome... ORPHA:699
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja... ORPHA:64743
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Short stature, Azoospermia ORPHA:2578
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Abnormal aortic morphology, Aplasia/Hypoplasi... ORPHA:1926
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif... OMIM:607361
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic... ORPHA:3260
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Ventricul... OMIM:616430
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Patent ductus ar... OMIM:606003
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Transient ischemic attack, Leukocytosis, Abnormal platelet mor... ORPHA:3318
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Cardiomyopathy, Dilated fourth ventricle... ORPHA:370959
Distal Duplication 5Q
Cryptorchidism, Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Abnormal platelet morphology, Epistaxis, Hematochezia, Lympho... ORPHA:906
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Short ... ORPHA:93476
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Cerebellar hypoplasia, Hydrocephalus OMIM:618174
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
Alexander Disease
Hydrocephalus, Abnormal dentate nucleus morphology, Increased CSF protein concentration OMIM:203450
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cerebellar cyst, Azoospermia, Bicornuate uterus, Short stature, Hypoplasia of the uterus OMIM:601076
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:618266
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Cerebellar atrophy, Increased CSF protein concentration, Short statu... OMIM:272200
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia ORPHA:2257
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Erythrocytosis, Familial, 2
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... 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, Dilation of Virchow-Robin spaces, Partial agenesis of the co... OMIM:619517
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia ORPHA:352682
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Atrial ... OMIM:277380
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Lateral ventricle dilatation, Cryptorchidism OMIM:616816
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Elevated circulating... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Elevated circulating alanine aminotransferase concentration... OMIM:620300
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Nephronophthisis 18
Hydrocephalus, Cholestasis, Hypertension, Portal fibrosis OMIM:615862
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Hydrocephalus, Me... ORPHA:3376
Scimitar Syndrome
Tricuspid atresia, Partial anomalous pulmonary venous return, Dextrocardia, Truncus arteriosus, V... ORPHA:185
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Dextrocardia, Abnormal aortic valve morphology ORPHA:261197
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar cyst, Cerebellar gliosis, Increased CSF lactate, Abnormal CSF pyruvate family amino ac... ORPHA:79243
Kleeblattschaedel
Hydrocephalus OMIM:148800
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Hypophosphatasia, Infantile
Stillbirth, Disproportionate short-limb short stature, Anemia, Intracranial hemorrhage OMIM:241500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Leukopenia, ... OMIM:251000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:615181
Aspergillosis
Stroke, Intracranial hemorrhage, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Short stature, Splenomegaly, Intraut... OMIM:609981
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Lateral ventr... ORPHA:261537
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Hepatic steatosis OMIM:612526
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Cardiac Diverticulum
Transposition of the great arteries, Tricuspid atresia, Dextrocardia, Partial anomalous pulmonary... ORPHA:1686
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Arteriosclerosis, Splenomegaly, Hepatic failure ORPHA:75234
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatog... OMIM:228300
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... OMIM:615191
Alg2-Cdg
Hepatomegaly, Lateral ventricle dilatation ORPHA:79326
Fanconi Anemia, Complementation Group B
Aplastic anemia, Cerebellar hypoplasia, Hydrocephalus, Hypergonadotropic hypogonadism, Growth del... OMIM:300514
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Oral cavity bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Ecch... ORPHA:324636
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Severe intrauterine growth retardation, Ascites, Urethrovaginal fistula, Sp... OMIM:243800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Marden-Walker Syndrome
Cryptorchidism, Dextrocardia OMIM:248700
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Cerebellar atrophy, Thrombocyto... OMIM:620603
Omphalocele-Cleft Palate Syndrome, Lethal