Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
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
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

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Odad3 mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... OMIM:611884
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... OMIM:615482
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Chronic rhi... OMIM:615451
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... OMIM:615067
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:614017
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Recurrent s... OMIM:615504
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, Situs in... OMIM:614874
Ciliary Dyskinesia, Primary, 17
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... OMIM:614679
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Recurrent s... OMIM:615505
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... OMIM:616037
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:613193
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Recurrent s... OMIM:615500
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 9
Cough, Situs inversus totalis, Chronic rhinitis, Recurrent sinusitis, Chronic sinusitis, Ciliary ... OMIM:612444
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Heterotaxy, Wheezing, Situs inversus totalis, Cough, Ciliary dyskinesia, Chronic ... OMIM:613807
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis OMIM:300991
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Bronchiecta... OMIM:618254
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... OMIM:618300
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Dextrocardi... OMIM:615444
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Hypothyroidism, Rhinorrhea, Bro... OMIM:617577
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... OMIM:606763
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Immotile cilia, Bronchiectasis OMIM:616481
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Recurrent s... OMIM:614935
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... OMIM:612650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... OMIM:619607
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Chronic rhi... OMIM:608647
Ciliary Dyskinesia, Primary, 38
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... OMIM:618063
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Upper airway obstruction, Polysplenia, Asplenia OMIM:612776
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... OMIM:615294
Ciliary Dyskinesia, Primary, 15
Wheezing, Situs inversus totalis, Cough, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskines... OMIM:613808
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cholestasis, Enlarged kidney, Situs inver... OMIM:615415
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia OMIM:615872
Ciliary Dyskinesia, Primary, 35
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis OMIM:617092
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis, Chron... OMIM:619608
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Female infertility, Anomalous pulmonary venous retu... ORPHA:244
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, Bronchi... OMIM:612649
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Situs inversus totalis, Male infertility, Absent outer dynein arms, ... OMIM:244400
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Reduced respiratory ciliary beating freque... OMIM:617091
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Ciliary dyskinesia, Abnormal ciliary motility OMIM:610852
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Bronchiectasis OMIM:618801
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia OMIM:242680
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:616726
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... OMIM:242670
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Diffuse alveolar hemorr... OMIM:614034
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Stroke, Short stature, Arrhythmia, Situs inversus tot... OMIM:249270
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension OMIM:106700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hydrocephalus, Congenital malformation of the great arteries, Abnormality of the spleen, Pancreat... ORPHA:1666
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia, Short stature ORPHA:3204
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... OMIM:615382
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Gout, Osteoporosis, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Choroid plexus cyst, ... OMIM:267010
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Restrictive ventilatory defect OMIM:613686
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Hepatic vascular malformations, Intracranial hemorrhage OMIM:116860
Osteoporosis OMIM:166710
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Respiratory insufficiency, Hepatomegaly ORPHA:1759
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Aplasia/Hypoplasia of the cerebellu... ORPHA:1908
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus ... OMIM:604213
Increased bone mineral density OMIM:265880
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Splenomegaly, Poikilo... OMIM:615234
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ven... OMIM:306955
Young Syndrome
Obstructive azoospermia, Abnormality of the pancreas, Decreased fertility ORPHA:3471
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Communicating hyd... OMIM:616084
Proteus-Like Syndrome
Hydrocephalus, Splenomegaly, Communicating hydrocephalus, Thymus hyperplasia, Polycystic ovaries,... ORPHA:2969
Gracile Bone Dysplasia
Hydrocephalus, Micropenis, Short stature, Hypoplastic spleen, Ascites, Asplenia OMIM:602361
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Rhizomelia, Hypertension, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Hec Syndrome
Arrhythmia, Communicating hydrocephalus, Endocardial fibroelastosis, Vaginal hydrocele, Cardiomyo... ORPHA:2119
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism, Ciliary dyskinesia OMIM:225050
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia ORPHA:2703
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Dandy-Walker malformation, Abnormal liver lobulation, ... ORPHA:99776
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Hypoglycorrhachia, Spontaneous hemolytic crises, Hepatosplenomegaly, Communicating... ORPHA:168577
Stormorken Syndrome
Short stature, Abnormal bleeding, Anemia, Thrombocytopenia, Epistaxis, Stroke-like episode, Asple... OMIM:185070
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Ven... OMIM:610333
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating h... ORPHA:2184
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Lissencephaly 4
Short stature, Cerebellar hypoplasia, Growth delay, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia, Communicating hydrocephalus ORPHA:1237
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Morbid Obesity And Spermatogenic Failure
Infertility, Premature coronary artery atherosclerosis, Oligospermia, Myocardial infarction, Azoo... OMIM:615703
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Ciliary dyskinesia ORPHA:1882
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Intrauterine growth retardation, Double... OMIM:270100
Estrogen Resistance
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Meckel Syndrome
Hydrocephalus, Urethral atresia, Cryptorchidism, Pancreatic fibrosis, Male pseudohermaphroditism,... ORPHA:564
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Icf Syndrome
Lymphopenia, Short stature, Communicating hydrocephalus, Abnormality of neutrophils, Anemia ORPHA:2268
Thakker-Donnai Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Ventricular septal defect, Transposition of the... ORPHA:1780
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Subdural hemorrhage, Persistent bleeding after trauma, Bruisin... OMIM:202400
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus, Short stature OMIM:112240
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Situs inversus tota... ORPHA:990
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... OMIM:235200
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus, Ventr... ORPHA:25
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Mitral valve prolapse, Obstructive sleep apnea, Situs inversus totalis OMIM:609008
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia, female, External genital ... OMIM:249000
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Short stature, Hypergonadotropic hypogonadism, Mitral valve prolapse, Azoospermia ORPHA:2183
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Tachypnea, Pneumothorax, Dextrocardia, Abnormal bre... ORPHA:2257
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia o... ORPHA:3097
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonatal death, P... ORPHA:85212
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... OMIM:173470
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Nephronophthisis 2
Situs inversus totalis, Respiratory insufficiency, Respiratory failure OMIM:602088
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Splenogonadal fusion... OMIM:156810
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Pagod Syndrome
Hypoplastic left heart, Short stature, Agonadism, Sudden cardiac death, Abnormality of the spleen... ORPHA:991
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Anterior hypopituitarism ORPHA:2863
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Peripheral arterial stenos... ORPHA:580
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Colpocephaly, Hepatomegaly OMIM:614870
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Short stature, Hypergonadotropic hypogonadism, Moyamoya phenomenon, Dilated ... ORPHA:280679
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Toxoplasmosis
Intrauterine growth retardation, Hydrocephalus, Hepatomegaly, Thrombocytopenia, Elevated hepatic ... ORPHA:858
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Respiratory distress, Tracheomalacia OMIM:202650
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... ORPHA:3226
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Dextrocardia, Hypertension, Jaundice OMIM:613095
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Shprintzen-Goldberg Syndrome
Mitral regurgitation, Abnormal aortic valve morphology, Communicating hydrocephalus, Mitral valve... ORPHA:2462
Cole-Carpenter Syndrome
Intrauterine growth retardation, Communicating hydrocephalus, Short stature ORPHA:2050
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Short stature, Hypergonadotropic hypogonadism, Abnormal left ventricle morph... OMIM:300845
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Dural Sinus Malformation
Hydrocephalus, Abnormal cerebellum morphology, Stroke, Subdural hemorrhage, Cerebellar hemorrhage... ORPHA:97339
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Cerebral h... ORPHA:331
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Cerebellar atrophy, Growth delay, Abnormal lateral ventricle morphology, I... ORPHA:488635
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Mirage Syndrome
Hydrocephalus, Petechiae, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonad... OMIM:617053
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Hypogonadism OMIM:615994
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Hydrocephalus, Increased CSF protein ORPHA:251912
Pseudo-Torch Syndrome 2
Petechiae, Hepatomegaly, Secundum atrial septal defect, Cerebral hemorrhage, Cerebellar hypoplasi... OMIM:617397
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical adenoma, Glu... ORPHA:404
Alpha-Mannosidosis, Infantile Form
Mitral regurgitation, Hepatosplenomegaly, Communicating hydrocephalus, Aortic regurgitation, Chia... ORPHA:309282
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Joubert Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, Leukocytosis, Hyperglycorrhachia, ST s... ORPHA:90065
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Short stature, Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate fo... ORPHA:261519
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage ORPHA:398189
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Cerebellar hypoplasia, Asplenia OMIM:617746
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Chronic neutropeni... OMIM:619302
Coach Syndrome 2
Hydrocephalus, Hypertension, Congenital hepatic fibrosis, Elevated hepatic transaminase, Cerebell... OMIM:619111
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical adenoma, Dex... ORPHA:403
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Marden-Walker Syndrome
Hydrocephalus, Severe short stature, Abnormal penis morphology, Hypospadias, Abnormal cerebellar ... ORPHA:2461
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Male hypogonadism, Asplenia, Female hypogonadism, Prema... OMIM:240300
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... OMIM:614480
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Auto... ORPHA:444463
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Glucoco... ORPHA:251274
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Poland Syndrome
Dextrocardia OMIM:173800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating renin, Ventricular hypertrop... ORPHA:369929
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat... OMIM:613313
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hydrocephalus, Hepatomegaly OMIM:300884
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature OMIM:303350
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum morphology, Short stature ORPHA:1532
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Hepatomegaly, Hepatic failure, Splenomegaly, Short stature, Cholestasis, Ventricul... OMIM:615630
Microphthalmia, Syndromic 9
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Single ventricle, Respiratory ins... OMIM:601186
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Kaposiform Lymphangiomatosis
Lymphangioma, Bruising susceptibility, Splenomegaly, Metrorrhagia, Abnormal bleeding, Hepatosplen... ORPHA:464329
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Myocardial fibrosis, Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Primary Angiitis Of The Central Nervous System
Stroke, CSF pleocytosis, Cerebral vasculitis, Intracranial hemorrhage, Abnormal CSF protein level... ORPHA:140989
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminot... OMIM:619534
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Abnormal cerebellum morphology, Disproportionate short-limb short statu... ORPHA:1505
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology ORPHA:2185
Chilton-Okur-Chung Neurodevelopmental Syndrome
Chordee, Micropenis, Short stature, Hypospadias, Epistaxis, Communicating hydrocephalus, Cerebell... OMIM:619841
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, ... ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Agene... OMIM:613153
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Ventriculomeg... ORPHA:2481
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... OMIM:269200
47,Xyy Syndrome
Hydrocephalus, Micropenis, Hypospadias, Oligospermia, Dysgenesis of the cerebellar vermis, Varico... ORPHA:8
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia, Stroke, Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... ORPHA:136
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:620010
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Infantile Sialic Acid Storage Disease
Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Congest... OMIM:269920
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Holoprosencephaly, Short stature, Azoospermia, Abnormal heart morphology ORPHA:1445
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Tetralogy of Fallot ORPHA:250994
Snakebite Envenomation
Stroke, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, ... ORPHA:449285
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Arteriovenous malformation, Hepatic failure, Subarach... ORPHA:774
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of the menstrual cycle, Thr... ORPHA:721
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Cerebellar hypoplasia, Patent ductus arteriosus OMIM:300049
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Hypogonadism, Intrauterine growth retardation, Cardiomyopathy OMIM:608540
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Methanol Poisoning
Abnormal cerebellar cortex morphology, Permanent atrial fibrillation, Cerebral hemorrhage, Inflam... ORPHA:31825
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive ... ORPHA:163596
Dengue Fever
Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Hypotension, T... ORPHA:99828
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Hepatomegaly, Atrial septal defect, Splenomegaly, Abnormal bleeding, Cirrhosis, Ch... OMIM:614576
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Aortic aneurysm, Cryptorchidism, Fr... ORPHA:261102
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Ellis Van Creveld Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... ORPHA:289
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Cerebellar hypoplasia, Congenital thrombocytope... OMIM:618886
Congenital Factor X Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Hemoperitoneum, Bruising susceptibility, Pos... ORPHA:328
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic failure, Hepatic fibrosis, Cerebellar atrophy OMIM:616719
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Ovarian cyst, Intracranial hem... ORPHA:327
Abnormal lateral ventricle morphology ORPHA:324422
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Catel-Manzke Syndrome
Ventricular septal defect, Dextrocardia, Cryptorchidism, Overriding aorta OMIM:616145
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Patent ductus arteriosus, Polysplenia, Asplenia OMIM:164280
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebellar hypoplasia, Ventriculomegaly, Communicating hydrocephalus, Micropenis ORPHA:457359
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly OMIM:614830
Scimitar Syndrome
Tricuspid atresia, Double outlet right ventricle, Respiratory distress, Anomalous pulmonary venou... ORPHA:185
H Syndrome
Histiocytosis, Amenorrhea, Hydrocephalus, Micropenis, Short stature, Hepatosplenomegaly, Enlarged... ORPHA:168569
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy ORPHA:276183
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogonadism, Pancreatic hypoplasia, Ve... OMIM:602782
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Short statu... ORPHA:3426
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Cerebellar atrophy OMIM:613909
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Short stature, Hypospadias, Agenesis of corpus callosum, Ventricular septal defect... OMIM:218350
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Hypoplasia of the pons, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ventriculomegaly OMIM:616531
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology ORPHA:85335
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Abnormality of the liver, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal... ORPHA:464321
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Pancreatitis, Hepatosplenomegaly, Primary am... ORPHA:135
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Pseudoaminopterin Syndrome
Hydrocephalus, Short stature, Patent foramen ovale, Cryptorchidism, Asplenia ORPHA:221120
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:619868
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Hypogo... ORPHA:141333
Tetraamelia Syndrome 1
Hydrocephalus, Urethral atresia, Absent external genitalia, Hypoplasia of the fallopian tube, Vag... OMIM:273395
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Short stature, Foam cells with lamellar inclu... OMIM:607616
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Dilated fourth ventricle, Partial absence of cerebellar ver... OMIM:220220
Galactose Epimerase Deficiency
Growth delay, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Growth delay, Hepatosplenomegaly, Anisopoikilocytosis, Elevate... ORPHA:300298
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocyt... ORPHA:49566
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Griscelli Syndrome
Hydrocephalus, Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Thrombocytopenia, Abnormali... ORPHA:381
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Atrial septal defect, Cryptorchidism, Micropenis, Short stature, Hypospadias, Intr... ORPHA:163979
Propionic Acidemia
Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Short stature, Pancytopenia, Neutropenia, Anem... OMIM:606054
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
48,Xxyy Syndrome
Infertility, Hypoplasia of penis, Hypergonadotropic hypogonadism, Ventriculomegaly, Decreased tes... ORPHA:10
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tracheomalacia, Unilateral crypto... OMIM:618280
Neonatal Severe Primary Hyperparathyroidism
Short stature, Hepatomegaly, Splenomegaly ORPHA:417
Joubert Syndrome With Ocular Defect
Dextrocardia, Apnea, Abnormal pattern of respiration, Abnormality of the hypothalamus-pituitary axis ORPHA:220493
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Intrauterine growth reta... OMIM:225790
8P11.2 Deletion Syndrome
Growth delay, Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Short statu... ORPHA:251066
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Growth delay, Anemia, Ascites, Premature ovarian insufficiency, Lymph... ORPHA:100025
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia ORPHA:231393
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hydrocephalus, Pancytopenia, Aortic valve calcification, Splenomegaly, Spontaneou... ORPHA:2072
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Isomerism, Trans... OMIM:314390
49,Xyyyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Ventriculomegaly, Male hypogonadism,... ORPHA:99330
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Cerebellar malformation, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Familial Afibrinogenemia
Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Menometrorrhagia, Epistaxis ORPHA:98880
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Elevated circulating aspa... OMIM:608836
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... OMIM:615830
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Macrocytic anemia, Ventricular septal defect, Dextrocardia, C... OMIM:614294
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Renpenning Syndrome
Severe short stature, Heterotaxy, Hypospadias, Decreased testicular size, Growth delay ORPHA:3242
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Adrenal hypopla... OMIM:264480
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Cryptorchidism, Supernumerary nipple, Atrioventricular canal defect OMIM:618929
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure, Cardiomegaly, Macroorchidism OMIM:300886
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Abnormality of the pancrea... ORPHA:2315
Bilateral Frontoparietal Polymicrogyria
Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Ventriculom... ORPHA:101070
Isovaleric Acidemia
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Hepatomegaly, Neutrophilia, Hepatic failure, Hemothorax, Subdural hemorrh... ORPHA:99827
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal bleeding, Cerebellar hypoplasia, Elevated hep... ORPHA:79332
Alexander Disease
Hydrocephalus, Increased CSF protein, Abnormal dentate nucleus morphology OMIM:203450
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Anencephaly, Agenesis of cerebellar vermis, Ventricular sept... OMIM:611134
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Aplasia/Hypoplasia of the cerebe... ORPHA:2585
Diabetic Embryopathy
Hydrocephalus, Micropenis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the pancreas, Tet... ORPHA:1926
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy... ORPHA:699
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Young Syndrome
Azoospermia OMIM:279000
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly ORPHA:945
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duc... OMIM:607361
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Epistaxis, Glucocortocoid-insensitive pri... ORPHA:231580
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Neutropenia, Thrombocytopenia, Car... OMIM:251000
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature ORPHA:2578
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Atrial septal defect, Short stature, Ventricular septal defect, ... OMIM:609053
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad... ORPHA:3260
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... OMIM:606003
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpus ... ORPHA:1528
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Erythrocytosis, Familial, 2
Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, In... OMIM:263400
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hydrocephalus OMIM:148800
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int... ORPHA:906
Ring Chromosome 7 Syndrome
Hydrocele testis, Severe intrauterine growth retardation, Abnormal cerebellum morphology, Holopro... ORPHA:1449
Mental Retardation, Buenos Aires Type
Hydrocephalus, Atrial septal defect, Intrahepatic biliary atresia, Hypospadias, Partial agenesis ... OMIM:249630
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Short stature, Azoospermia, Cerebellar cyst OMIM:601076
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Short stature, Abnormality of the tonsils, Abnormal heart valve morph... ORPHA:93476
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Ventriculomegaly, Splenomegaly OMIM:615637
Multiple Sulfatase Deficiency
Hydrocephalus, Hepatomegaly, Splenomegaly, Short stature, Ventriculomegaly, Increased CSF protein... OMIM:272200
Pseudo-Torch Syndrome 1
Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, Cerebellar hypoplasia, Elevated ... OMIM:251290
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele, Cerebellar hypoplasia ORPHA:352682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Cerebellar hypoplasia, Ventriculomegaly, Decreased testic... OMIM:615287
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Acute hepatic failure, Hypertrophic cardiomyopathy, Sudden cardiac death, ... ORPHA:99901
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Anemia, Stillbirth, Intracranial hemorrhage OMIM:241500
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Dilated fourth ventricle, Hypoplasia of the pons, ... ORPHA:370959
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Hypospadias, Sudden cardiac death... OMIM:610198
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Primary amenorrhea, Hepatic steatosis OMIM:612526
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... OMIM:614837
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Abnormal cardiac septum morphology, Hydrocephalus, Hepatomegaly, Hypoplasia of penis, Holoprosenc... ORPHA:3376
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice, Arteriosclerosis ORPHA:75234
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Pulmonary artery sling, Enlarged cerebellum, Abnormal heart morphology, Chordee... ORPHA:261537
Lissencephaly 5
Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Hydrocephalus, Occipital encephal... OMIM:615191
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... ORPHA:2414
Marden-Walker Syndrome
Dextrocardia, Cryptorchidism OMIM:248700
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Hepatic foam cells, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:278000
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
Fanconi Anemia, Complementation Group B
Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Cerebellar hypoplasia... OMIM:300514
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Short stature, Postnatal growth retardation, Lymphadenopathy, Intraut... OMIM:609981
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Leukemia, Ventriculomegaly OMIM:602501
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Glut1 Deficiency Syndrome 2
Increased CSF lactate, Splenomegaly, Hypoglycorrhachia, Hemolytic anemia, Reticulocytosis OMIM:612126
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Cry... ORPHA:96092
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Temple Syndrome
Hydrocephalus, Short stature, Decreased testicular size, Cryptorchidism, Intrauterine growth reta... OMIM:616222