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
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
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

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Viewing: all phenotypes

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
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... OMIM:615482
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:615504
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia... OMIM:614679
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:615505
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... OMIM:614874
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:616481
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:615500
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia OMIM:613193
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... OMIM:616037
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... OMIM:613807
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... OMIM:618254
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na... OMIM:615444
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:300991
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothy... OMIM:617577
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t... OMIM:614935
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:612650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si... OMIM:620197
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... OMIM:608647
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:617092
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia OMIM:612776
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... OMIM:613808
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis OMIM:615872
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... OMIM:619608
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... OMIM:612649
Primary Ciliary Dyskinesia
Male infertility, Abnormal inferior vena cava morphology, Atrial situs ambiguous, Abnormal atrial... ORPHA:244
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... OMIM:614779
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... OMIM:208540
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis OMIM:610852
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Situs inversus totalis, Absent outer dynein arms, ... OMIM:244400
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis OMIM:618801
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia OMIM:616726
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Short stature, Ventricular septal defect, Situs inversus totalis, Thiamine-... OMIM:249270
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep... OMIM:614034
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus OMIM:610947
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abn... ORPHA:1666
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Nephronophthisis 16
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Pulmonic stenosi... OMIM:615382
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Respiratory insufficiency ORPHA:1759
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Choroid ... OMIM:267010
Osteoporosis
Osteoporosis OMIM:166710
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Short stature, Epistaxis, Subarachnoid hemorrhage, Asplen... OMIM:185070
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, Arrhy... ORPHA:2119
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Hydrocephalu... ORPHA:2969
Gracile Bone Dysplasia
Short stature, Asplenia, Hydrocephalus, Micropenis, Hypoplastic spleen, Ascites OMIM:602361
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia ORPHA:1237
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situ... OMIM:619123
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve ... ORPHA:99776
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Short stature, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Paten... OMIM:619657
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Hypertension, Agenesis of corpus callosum, Thrombocytopenia OMIM:166990
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Primary hypothyroidism OMIM:225050
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... OMIM:615219
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Short stature, Dextrocardia, Unilateral vertebral artery hypoplasia,... OMIM:613686
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Short stature, Postnatal growth retard... ORPHA:168577
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Situs inversus totalis OMIM:619881
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Thrombocytopenia, ... OMIM:610333
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Lissencephaly 4
Short stature, Growth delay, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:614019
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia, Hypothyroidism ORPHA:1882
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... OMIM:270100
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly, Patent ductus arteriosus, Ovarian cyst, Stroke, Sp... OMIM:618188
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Meckel Syndrome
Encephalocele, Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Situs inversus totali... ORPHA:564
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... OMIM:617205
Icf Syndrome
Communicating hydrocephalus, Short stature, Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Respiratory distress ORPHA:89844
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th... ORPHA:1780
Meacham Syndrome
Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno... ORPHA:3097
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambi... OMIM:249000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Hypoplasia of penis, Situs inversus totalis, Holoprosencephaly, Aplasia/Hypoplasia of the cerebel... ORPHA:990
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Petechiae, Cerebral hemorrhage, Se... OMIM:617397
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Respiratory insufficiency OMIM:602088
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Situs inversus totalis, Abnorma... ORPHA:991
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Dextrocardia, Secundum atrial septal defect, Asthma, Tachyp... ORPHA:2257
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... OMIM:265380
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... ORPHA:85212
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis OMIM:202650
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Hepatomegaly, Colpocephaly, Decreased liver function OMIM:614870
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Hepatic cysts OMIM:613095
Mirage Syndrome
Short stature, Hypospadias, Hypergonadotropic hypogonadism, Petechiae, Thrombocytopenia, Hydrocep... OMIM:617053
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Anterior hypopituitarism, Dextrocardia ORPHA:2863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, Chiari ... ORPHA:2462
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Hydrocephalus, Jaund... ORPHA:858
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Short stature, Abnormal heart valve morphology, Abnorm... ORPHA:580
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Hydrocephalus, Partial agenesis of the corpus callosum, Anemia, Cerebellar h... OMIM:619302
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Azoos... ORPHA:280679
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lym... ORPHA:3226
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Abnormal cerebellum morp... ORPHA:97339
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Cerebellar atrophy, Pancytopenia, Aortic regurgitation, Hepatospleno... ORPHA:309282
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Dexamethasone-suppressible primary hy... ORPHA:403
Joubert Syndrome
Situs inversus totalis, Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus ORPHA:475
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Bardet-Biedl Syndrome 17
Situs inversus totalis, Hypogonadism, Dextrocardia OMIM:615994
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Growth delay, Cerebellar hypoplasia, I... ORPHA:488635
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Cerebellar hypoplasia, Patent foram... OMIM:617746
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hydrocephalus... ORPHA:90065
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Ventricular septal defect, Postnatal growth retardation, Splenomegal... OMIM:620210
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor... OMIM:607091
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... OMIM:619111
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... ORPHA:326
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Marden-Walker Syndrome
Abnormal penis morphology, Severe short stature, Ventricular septal defect, Dextrocardia, Hypospa... ORPHA:2461
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:251274
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hepatomegaly, Hydrocephalus OMIM:300884
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadism, Asplenia, Male hy... OMIM:240300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Postnatal growth retardation,... OMIM:300845
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cere... OMIM:618291
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias ORPHA:250994
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... ORPHA:1330
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Chiari malformati... ORPHA:261102
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Short stature ORPHA:1532
Poland Syndrome
Dextrocardia OMIM:173800
Masa Syndrome
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:303350
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Ventricular septal defect, Splenomegal... OMIM:615630
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Short stature, Hypospadias, Epistaxis,... OMIM:619841
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... ORPHA:398124
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, ... ORPHA:464329
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Sple... ORPHA:79301
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, ... ORPHA:2481
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ventricular septal de... OMIM:614424
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepat... OMIM:614480
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, CSF pleocytosis, Splenomegaly, Increased CSF interferon alpha, In... OMIM:615010
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Left... OMIM:613153
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia OMIM:182410
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrh... ORPHA:99147
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl... OMIM:601186
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... OMIM:620010
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Congestive heart... OMIM:269920
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism OMIM:614514
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Scimitar Syndrome
Respiratory distress, Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous ... ORPHA:185
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebellar hypoplasia OMIM:300049
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly OMIM:617011
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Microcytic anemia, Pulmonary ... ORPHA:774
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... ORPHA:163596
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadias, Situs inve... ORPHA:289
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... OMIM:218350
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising suscepti... ORPHA:721
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising su... ORPHA:99828
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hepatomegaly, Ventriculomegaly, Pancytopenia, Ventricular septal defect, Elev... OMIM:614576
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hepatosplenomegaly, Gr... ORPHA:135
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Cerebellar hypoplas... OMIM:618886
Pseudoaminopterin Syndrome
Short stature, Asplenia, Cryptorchidism, Hydrocephalus, Patent foramen ovale ORPHA:221120
Double Outlet Right Ventricle
Tachycardia, Short stature, Ventricular septal defect, Double outlet right ventricle, Heart murmu... ORPHA:3426
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Inferior cerebella... OMIM:304100
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Cerebellar hypoplasia, Ventriculomegaly ORPHA:457359
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Mitral valve prolapse, Azoospermia ORPHA:2183
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... OMIM:619868
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Bone-marrow foam cells, T... OMIM:607616
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutrop... OMIM:606054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, ... OMIM:613155
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydroc... ORPHA:163979
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Ring Chromosome 7 Syndrome
Short stature, Hypospadias, Situs inversus totalis, Abnormal cerebellum morphology, Heart murmur,... ORPHA:1449
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis, Cerebel... OMIM:616719
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Delayed p... ORPHA:141333
Renpenning Syndrome
Severe short stature, Hypospadias, Growth delay, Heterotaxy, Decreased testicular size ORPHA:3242
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine conc... OMIM:616034
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... ORPHA:49566
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Short stature, Hypospadias, Patent ductus arteriosus, Lateral ventricl... OMIM:618330
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia OMIM:616531
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis OMIM:300982
Griscelli Syndrome
Encephalocele, Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Hydrocephal... ORPHA:381
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Vaginal atr... OMIM:273395
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Vascular dilatation, Hydrocephalus, Part... OMIM:220220
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Ventricular septal... OMIM:617751
1P31P32 Microdeletion Syndrome
Chiari type I malformation, Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Apnea, Dextrocardia, Abnormal pattern of respiration ORPHA:220493
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a... ORPHA:98879
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect OMIM:616816
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Splenomegaly, Hydrocephalus, Cere... ORPHA:79332
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Diabetic Embryopathy
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, Abnormal m... ORPHA:1926
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Neonatal death, Atri... OMIM:314390
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Johanson-Blizzard Syndrome
Diabetes mellitus, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac septum morphology,... ORPHA:2315
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Ventriculom... ORPHA:101070
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly ORPHA:324416
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1528
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Atrioventricular canal defect, Dextrocardia, Supernumerary nipple OMIM:618929
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage, Dense calcifications in the cerebellar dentate nucleus ORPHA:542310
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventricular canal defe... OMIM:264480
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Epistaxis, Decreased ... ORPHA:231580
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistu... OMIM:614294
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I... ORPHA:99827
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Hydrocephalus, Meningoce... OMIM:611134
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... OMIM:619463
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Spl... ORPHA:2585
Familial Afibrinogenemia
Abnormal bleeding, Menometrorrhagia, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Hepatoportal Sclerosis
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Hydrocephalus, Menin... ORPHA:3376
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature, Cerebellar hypoplasia OMIM:618174
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, H... OMIM:607361
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia ORPHA:100025
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Ventricul... OMIM:616430
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Pancreatitis, Throm... OMIM:251000
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... OMIM:606003
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia ORPHA:96097
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Abnormal dentate nucleus morphology OMIM:203450
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... OMIM:615234
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... ORPHA:3260
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Petechiae, Splenomegaly, Jaundice,... OMIM:251290
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Abnormal heart valve morphology, Splenom... ORPHA:93476
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, At... OMIM:277380
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Partial agenesis of the corpus ca... OMIM:619517
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Short stature, Hypospadias, Por... OMIM:243800
Martsolf Syndrome 2
Lateral ventricle dilatation, Short stature, Hypogonadotropic hypogonadism OMIM:619420
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... ORPHA:90790
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... OMIM:620300
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypoplastic female external genitalia... OMIM:618577
Nephronophthisis 18
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Chiari type I malfo... ORPHA:261537
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Increased CSF prote... OMIM:272200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Cerebellar gliosis, Partial agenesis of the corpus callosum, Increased... ORPHA:79243
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Kleeblattschaedel
Hydrocephalus OMIM:148800
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... ORPHA:2414
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hepatic failure ORPHA:75234
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth, Disproportionate short-limb short stature, Anemia OMIM:241500
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Temple Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Precocious puberty ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst OMIM:615181
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... OMIM:609981
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... OMIM:615191
Alg2-Cdg
Hepatomegaly, Lateral ventricle dilatation ORPHA:79326
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation ORPHA:83473
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hyd... OMIM:300514
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Chiari type I malfo... ORPHA:261552
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Marden-Walker Syndrome
Cryptorchidism, Dextrocardia OMIM:248700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosu... OMIM:175700
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, CS... ORPHA:158057
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect, Leukemia, Ventriculomegaly OMIM:602501
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy ORPHA:77299
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Aspergillosis
Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia ORPHA:1163
Mowat-Wilson Syndrome
Bifid scrotum, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Webbed penis, Micro... ORPHA:2152
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o... ORPHA:96092
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content OMIM:261750
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal bleeding, Anemia ... ORPHA:75564
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hydrocephalus, Hypertension, Abnor... ORPHA:2169
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly... OMIM:612840
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Az... ORPHA:8
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of the gallbladder, Abnormal mesentery mo... ORPHA:2075
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hypospadias, Hydrocephalus, Double outlet right ventricle, Hypoplastic... OMIM:220210
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Hydrocephalus, Short stature ORPHA:1516
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arterio... OMIM:609757
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Tarp Syndrome
Cerebellar vermis hypoplasia, Subdural hemorrhage, Cerebellar hypoplasia, Neonatal death, Hepatic... OMIM:311900
Cog5-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Cryptorchidism, H... ORPHA:263487
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... OMIM:277450
Fanconi Anemia, Complementation Group I
Short stature, Ventricular septal defect, Agenesis of corpus callosum, Colpocephaly, Chiari malfo... OMIM:609053
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Agenesis of corpus callosum, Intrahepatic biliary dysgenesis, Hepatomegaly,... OMIM:614866
Czeizel-Losonci Syndrome
Hypoplastic nipples, Dextrocardia ORPHA:2437
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cerebellar calcifications, Petechiae,... OMIM:225750
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Vascular calcification, Thrombocytopenia OMIM:231000
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Elevated hepa... OMIM:216360
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone ... ORPHA:96181
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short stature, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature OMIM:309400
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Agenesis of corpus call... ORPHA:300573
3C Syndrome
Atrial septal defect, Hypoplasia of penis, Short stature, Ventricular septal defect, Abnormal mit... ORPHA:7
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Splenomegaly, Pancreatic l... ORPHA:1655
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Growth delay, Decreased proportion of... OMIM:243700
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Hypertension, Cholestasis OMIM:105200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous g... ORPHA:90795
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Non-Functioning Paraganglioma