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Gene: Odad3 MGI:1924859

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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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

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Odad3 mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... OMIM:616037
Primary Ciliary Dyskinesia
Male infertility, Abnormal inferior vena cava morphology, Atrial situs ambiguous, Abnormal atrial... ORPHA:244

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, 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
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Abnormality of the male genitalia, Hydrocephalus, P... OMIM:614886
Medulloblastoma
Elevated hepatic transaminase, Cerebellar calcifications, Cerebellar hemorrhage, Hydrocephalus, C... ORPHA:616
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Microp... ORPHA:171839
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Elevated circulating aspa... OMIM:257200
Estrogen Resistance
Osteopenia, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Ascites, Polycythemia ORPHA:284227
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Pulmonary embolism, Hydrocephalus, Jaundice, Dilated cardiomyopathy, Subdur... ORPHA:79282
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus... OMIM:231005
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasi... ORPHA:1454
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Epistaxis, Splenome... OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... ORPHA:163961
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... OMIM:619487
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Dilation of Virchow-Robin spaces, Agenesis of corpus ca... OMIM:619955
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Paten... ORPHA:77298
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Reduc... ORPHA:79284
Diencephalic Syndrome
Hydrocephalus, Long penis ORPHA:1672
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hy... ORPHA:824
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ambiguous genitalia, Short stature, Hypospadias, Postnatal growth retardation, Cry... OMIM:257300
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concentration, Hypopla... OMIM:613154
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Atrial ... ORPHA:93274
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Superficial Siderosis
Cerebellar atrophy, Enlarged sylvian cistern, Abnormal bleeding, Abnormal cerebrospinal fluid mor... ORPHA:247245
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... ORPHA:85284
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth retardation, Dandy-Wal... OMIM:225790
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Severe postnatal growth retardation, Lateral... ORPHA:3078
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Primary... ORPHA:79083
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Splenomegaly, Hyd... ORPHA:3452
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Hydrocephalus, Chiari type I malformation, Micropenis OMIM:241800
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... OMIM:601847
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth ... OMIM:618541
H Syndrome
Short stature, Microcytic anemia, Hydrocephalus, Abnormal cardiovascular system physiology, Ameno... ORPHA:168569
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Hypospadias, Phimosis, Situs inversus totalis, Atrial s... OMIM:309500
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrotransposition of the great arteries, Colp... OMIM:618619
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ventricular septal defect OMIM:611812
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... ORPHA:96170
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Abnormal cerebellum mor... ORPHA:2356
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Sub... ORPHA:90324
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly, Telangi... ORPHA:93400
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Atr... OMIM:608629
Temple Syndrome
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation... OMIM:616222
Alexander Disease Type I
Cerebellar atrophy, Hydrocephalus ORPHA:363717
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Chiari malformation, Cerebral ischemia, Arteriovenous ... ORPHA:60040
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Abnormal intrahepa... ORPHA:363618
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc... OMIM:259720
Thanatophoric Dysplasia
Hydrocephalus, Patent ductus arteriosus, Disproportionate short-limb short stature, Atrial septal... ORPHA:2655
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:614219
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninf... OMIM:603909
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,... OMIM:612863
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Severe short stature, Short stature, Abnormal heart valve morphology, Splenomegaly,... OMIM:309900
Trisomy 1Q
Small scrotum, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus... ORPHA:261344
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte en... ORPHA:264580
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, Hydrocephalus, Hepatic cal... ORPHA:228308
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Bilateral cryptorchidism, Cryptorc... OMIM:614976
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Ventricular septal defect, Postnatal growth retardation, Partial agenesis of the c... OMIM:620113
Desmosterolosis
Severe short stature, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:35107
Hydranencephaly
Antenatal intracerebral hemorrhage, Postnatal growth retardation, Abnormal internal carotid arter... ORPHA:2177
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Fanconi Anemia, Complementation Group R
Hydrocephalus, Growth delay, Chiari type I malformation, Bone marrow hypocellularity, Anemia OMIM:617244
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Bradycardia, Neonatal death, Decreased CSF glut... OMIM:610015
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Petechiae, CSF pleocytosis, Thrombocytopenia, Spleno... ORPHA:540
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis ORPHA:79292
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Int... ORPHA:394
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Cryptorchidism, ... OMIM:620305
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Abnormal cerebral vasc... ORPHA:3318
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Intrauterine ... OMIM:612938
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly, Growth delay, Elevated hepatic transaminase OMIM:306000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Ascites, Anemia ORPHA:75233
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Decreased liv... OMIM:618606
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemolytic anemia, Short stature, ... ORPHA:1855
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypop... ORPHA:397715
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Slc35A2-Cdg
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Precocious puberty, Abnormal he... ORPHA:356961
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Shock, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosi... ORPHA:340
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Short stature, Rhizomelia, Hypospadias, Postnat... OMIM:611209
Axial Mesodermal Dysplasia Spectrum
Short stature, Abnormality of the spleen, Hydrocephalus, Abnormality of the liver, Abnormal morph... ORPHA:1834
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Postnatal growth retardation, Hydrocephalus, Abnormal cardiac ventricle mo... ORPHA:2306
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Atrial septal defect, Aortic valve st... ORPHA:459061
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, C... OMIM:613001
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia... OMIM:608013
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Hepatosplenomega... ORPHA:2072
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydrocephalus, Coarct... ORPHA:2409
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Emanuel Syndrome
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... OMIM:609029
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Cryptorchidism, Increased CSF lactate, Lateral ventricle dilatati... ORPHA:565624
Optic Pathway Glioma
Growth delay, Hydrocephalus, Precocious puberty ORPHA:2086
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Hepatitis, Biliar... ORPHA:227990
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus, Short stature ORPHA:585
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation, Hydrocele testis ORPHA:85290
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:109120
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Atrial septal defect, Micropenis, Pancreatic hypoplasia, Hepatomegaly, Short statur... OMIM:602782
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aquedu... OMIM:619895
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Tetrasomy 15Q26
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Atrial septal defect, Intrauter... OMIM:614846
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation ORPHA:93262
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hypospadias, Postnatal growth ret... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hypospadias, Postnatal growth ret... ORPHA:363958
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Abnormal internal genitalia, Hydrocephalus, Anenceph... OMIM:612284
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Anemia OMIM:612301
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt... OMIM:259710
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature OMIM:300558
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:619833
Knobloch Syndrome
Lymphangioma, Dextrocardia ORPHA:1571
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology OMIM:276950
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Thrombocytopenia OMIM:259700
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... OMIM:607765
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Aortic aneurysm, Arterio... ORPHA:109
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Hydrocephalus, Stillbirth, Cerebellar hypoplasia,... OMIM:243605
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Cerebellar vermis hypoplasia, Hydrocephalus, Hepatic calcification, Cardiomyopathy,... ORPHA:157
1Q44 Microdeletion Syndrome
Short stature, Hydrocephalus, Growth delay, Abnormal cardiac septum morphology, Agenesis of corpu... ORPHA:238769
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Aortic regurgitation OMIM:600721
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Hurler Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Abnormal heart valve morphology, Angina ... ORPHA:93473
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, A... OMIM:269860
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Short stature, Ventricular septal defect, Hypospadias, Ovotestis, Junctional ec... OMIM:309801
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retard... ORPHA:79240
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Colpocephaly... ORPHA:261250
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Abnormal cerebel... ORPHA:1647
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hydrocephalus, Short stature, Anemia ORPHA:53
Bilateral Generalized Polymicrogyria
Growth delay, Lateral ventricle dilatation, Short stature ORPHA:208447
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... ORPHA:231214
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Enlarged tonsils,... OMIM:607014
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c... OMIM:615895
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growth retardation ORPHA:163966
Monosomy 18Q
Left-to-right shunt, Short stature, Absence of the pulmonary valve, Secundum atrial septal defect... ORPHA:1600
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Noonan Syndrome 14
Aortic regurgitation, Short stature, Cryptorchidism, Mitral valve prolapse, Lateral ventricle dil... OMIM:619745
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation OMIM:615716
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defe... OMIM:603387
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Ventriculomegaly, Cerebellar vermis hypoplasia, Car... ORPHA:572798
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis,... OMIM:224120
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, M... OMIM:619951
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Splenomegaly... ORPHA:251066
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Splenomegaly, Intrauterine growth retardation ORPHA:3035
Alkuraya-Kucinskas Syndrome
Small scrotum, Pericardial effusion, Hydrocephalus, Cerebellar hypoplasia, Micropenis, Dandy-Walk... OMIM:617822
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Chiari type I malformation... OMIM:270400
Crouzon Syndrome
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia ORPHA:207
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Cerebellar hypoplasia,... OMIM:253800
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformat... ORPHA:899
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Increased CSF lactate, Prolonged prothrombin time, Neonatal death, I... OMIM:619055
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Retinal telangiectasia OMIM:620157
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Metatropic Dysplasia
Hydrocephalus, Severe short stature ORPHA:2635
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Severe short stature, Short stature, Abnormal heart valve morphology, Postnatal gro... OMIM:253220
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus ORPHA:1914
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... OMIM:139090
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Hydrocephalus, Cry... OMIM:227646
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Hydrocephalus, Abnormality o... ORPHA:59315
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Agenesis of c... OMIM:612582
Coccidioidomycosis
Pericarditis, Abnormal sperm morphology, Eosinophilia, CSF pleocytosis, Hydrocephalus, Abnormalit... ORPHA:228123
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocyto... OMIM:153670
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Lateral ventricle dilatation, Short stature, Dextrotransposition of th... OMIM:619995
Distal Triplication 15Q
Abnormal external genitalia, Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Ab... ORPHA:314588
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Fg Syndrome Type 1
Short stature, Hypospadias, Abnormal cerebellum morphology, Hydrocephalus, Cryptorchidism, Mitral... ORPHA:93932
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Hydrocephalus, Patent ductus arteriosus, Chiari malformation, Atrial septal defect, A... OMIM:618162
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:616355
Pontocerebellar Hypoplasia, Type 7
Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Ambiguous genitalia... OMIM:614969
Mosaic Trisomy 1
Hepatic agenesis, Cerebellar vermis hypoplasia, Ventricular septal defect, Coarctation of aorta, ... ORPHA:1692
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Short stature, Tricuspid regurgitation, Patent du... OMIM:618460
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cerebellar dysplasia, Hydrocephalus, Partial absence of cerebellar vermis, Cerebel... OMIM:613150
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Abnormal cerebellum morpholog... ORPHA:86309
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Trisomy 17P
Hypoplasia of penis, Short stature, Hydrocephalus, Patent ductus arteriosus, Growth delay, Hypopl... ORPHA:261290
Mucopolysaccharidosis Type 1
Short stature, Abnormality of the tonsils, Abnormal heart valve morphology, Splenomegaly, Hydroce... ORPHA:579
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale, Hyposegmentation of neu... OMIM:620075
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Ventriculomegaly, Short stature, Rhizomeli... ORPHA:666
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesi... ORPHA:1812
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, H... ORPHA:90062
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Agenesis of corpu... ORPHA:2189
Hydrolethalus Syndrome 1
Accessory spleen, Complete atrioventricular canal defect, Ventricular septal defect, Adrenal glan... OMIM:236680
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Short stature, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Art... ORPHA:536545
Tetrasomy 5P
Postnatal growth retardation, Congestive heart failure, Hydrocephalus, Heart murmur, Cerebellar h... ORPHA:3309
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Ventriculomegaly, Pancytopenia, Short stature, Abnormal pericard... ORPHA:355
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation OMIM:300863
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Short stat... ORPHA:84
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia, Aplasia/Hypoplasia ... ORPHA:2720
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Short stature OMIM:618480
Lateral Meningocele Syndrome
Bicuspid aortic valve, Short stature, Ventricular septal defect, Cryptorchidism, Hydrocephalus, M... OMIM:130720
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Small scrotum, Hypospadias, Ambiguous genitalia, Cryptorchidism, Hydrocephalus,... OMIM:612651
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Dandy-Walker malformation, Agen... OMIM:618476
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Hydrocephalus, Intrauterine growth retardation, Bruising susceptibil... OMIM:612940
Tetrasomy 9P
Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atresia, Abnorm... ORPHA:3310
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Congestive heart failure, Hydrocephalus, Disproportionate short... OMIM:616482
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Short stature, Splenomegaly, Hydrocephalus, Disproportiona... OMIM:253200
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Cryptorchidism, Double outlet right ventricle, Mitral va... OMIM:300166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:615249
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Halperin-Birk Syndrome
Colpocephaly, Perimembranous ventricular septal defect, Intrauterine growth retardation, Agenesis... OMIM:618651
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Patent ductus arte... ORPHA:505248
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Elevated hemoglobin A1c OMIM:619278
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regur... OMIM:300972
Diets-Jongmans Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Heterotaxy, Interrupted in... OMIM:618846
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Patent ductus arteriosus, Coarctation of aorta, Colpocephaly, Mitral stenosis, Age... OMIM:617260
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Disproportionate short-trunk short stature OMIM:613330
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Portal fibrosis, Hepatic fibrosis, ... OMIM:619377
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Short stature, Bicuspid aortic valve, I... ORPHA:84064
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral v... ORPHA:544488
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Postnatal growth retardation, Partial agenesis of the corpus callos... ORPHA:300570
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Thanatophoric Dysplasia Type 1
Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Lethal short-limbed short stature,... ORPHA:1860
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Ventricular septal defect, Hydrocephalus, Chiari type I malformation, Hematochezia... OMIM:619575
Meningioma
Hypogonadotropic hypogonadism, Cerebral hemorrhage, Abnormal cerebellum morphology, Hydrocephalus... ORPHA:2495
Poland Syndrome
Diabetes mellitus, Dextrocardia, Cryptorchidism, Acute leukemia, Abnormality of the liver, Atrial... ORPHA:2911
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, Hydrocephalu... OMIM:261740
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Lateral ventricle dilatation, Short stature, Micropenis OMIM:619847
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Familial Thrombocytosis
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Splenomegaly, Peripheral ar... ORPHA:71493
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, Hypertension, Prominen... ORPHA:1555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cryptorchidism, Cerebellar hypoplas... OMIM:236670
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum m... ORPHA:250989
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neopl... ORPHA:171
Orofaciodigital Syndrome I
Short stature, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Abnormal h... OMIM:311200
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Distal Deletion 10Q
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Lateral ventricle dilatati... ORPHA:96148
Desmosterolosis
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Partial agenesis of the corpus callosum, ... OMIM:602398
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformatio... OMIM:617281
Catel-Manzke Syndrome
Cryptorchidism, Overriding aorta, Ventricular septal defect, Dextrocardia OMIM:616145
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Pulmonary artery ... ORPHA:667
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... OMIM:615688
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Reti... OMIM:175780
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Cry... OMIM:619512
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Irregular menstrua... OMIM:216400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated third ventricle, ... ORPHA:500055
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Hy... OMIM:608091
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb sho... OMIM:187600
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:219730
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology OMIM:601499
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Intraventricular hemorrh... ORPHA:420741
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Short stature, Abnormal heart valve morphology, Autoimmune throm... ORPHA:77293
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Atrial septal defect, Micr... OMIM:210710
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Pulmonary arterial hypertension, Lateral ventricle dilata... ORPHA:464738
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... OMIM:611881
Trisomy 8P
Peripheral pulmonary artery stenosis, Abnormal atrioventricular connection, Cryptorchidism, Hydro... ORPHA:264450
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Hypertension, Chiari malform... OMIM:123790
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holop... OMIM:147791
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... OMIM:304340
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Cerebellar vermis hypoplasia, Pancreatic fibrosis, Ventricular septal defect... OMIM:263520
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature OMIM:616294
Restrictive Dermopathy
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Congenital adrenal hypoplasia, Tra... ORPHA:1662
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Patent foramen ovale, Pulmonic stenosis OMIM:618914
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:2162
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of the uterus, Atrial sept... ORPHA:567
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:220497
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Postnatal growth retardation, Precocious puberty, Par... OMIM:304050
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst OMIM:616538
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Abnormal heart morphology ORPHA:1865
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Right bundle branch block, Cereb... OMIM:618590
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Plasminogen Deficiency, Type I
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Rabin-Pappas Syndrome
Retinal telangiectasia, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebe... OMIM:620155
Apert Syndrome
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Chiari type I malform... OMIM:101200
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Colpocep... OMIM:618820
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia, Throm... ORPHA:79500
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydroceph... ORPHA:2839
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Leukocytosis, Hydrocephalus, Hypoplasia of the ovary, Intrauterine growth retardat... OMIM:619321
Witteveen-Kolk Syndrome
Short stature, Hypospadias, Unilateral cryptorchidism, Phimosis, Dysplastic corpus callosum, Grow... OMIM:613406
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Mitral valve prolapse, Hypertension, Aortic root an... OMIM:616914
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morph... ORPHA:565612
Apert Syndrome
Hydrocephalus, Ovarian neoplasm, Hypertension, Chiari malformation, Agenesis of corpus callosum, ... ORPHA:87
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Aymé-Gripp Syndrome
Pericarditis, Short stature, Postnatal growth retardation, Pericardial effusion, Hydrocephalus, C... ORPHA:1272
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Short stature, Cryptorchidism, Hydrocephalus, Irregular menstr... OMIM:101800
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Purpura OMIM:254450
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
7Q11.23 Microduplication Syndrome
Short stature, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... ORPHA:96121
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly ORPHA:2836
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great art... OMIM:313850
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Fanconi Anemia, Complementation Group L
Hydrocephalus, Growth delay, Bone marrow hypocellularity, Cerebellar hypoplasia, Aplasia of the u... OMIM:614083
Cardiofaciocutaneous Syndrome 1
Short stature, Splenomegaly, Hydrocephalus, Pulmonic stenosis, Atrial septal defect, Hypertrophic... OMIM:115150
Hajdu-Cheney Syndrome
Hepatomegaly, Short stature, Mitral stenosis, Ventricular septal defect, Hypospadias, Splenomegal... ORPHA:955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Dan... OMIM:614643
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia ORPHA:3301
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Priapism, Hypertension, Abnorm... ORPHA:139417
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Craniopharyngioma
Hypogonadotropic hypogonadism, Proportionate short stature, Myocardial infarction, Postnatal grow... ORPHA:54595
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly OMIM:616260
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal cardiac ... ORPHA:2166
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Hydrocephalus, Recurrent tonsillitis, Atri... ORPHA:581
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Abnormality of the lymphatic system, Abnormal morphol... ORPHA:538
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Postnatal growth retardation, Hydrocephalus, Hypopla... OMIM:605627
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Short stature, Hypospadias, Cryptorchidism, Colpocephaly, Penile hy... OMIM:620083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Lateral ventricle dilat... OMIM:300868
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Dubowitz Syndrome
Short stature, Hypospadias, Abnormality of neutrophils, Abnormality of female external genitalia,... ORPHA:235
Lhermitte-Duclos Disease
Hydrocephalus, Enlarged cerebellum, Ovarian neoplasm ORPHA:65285
Weaver Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Cerebel... OMIM:277590
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Cryptorchidism, Lateral ventricle dilatation, Intrauterine gr... OMIM:617557
Marshall-Smith Syndrome
Short stature, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus... OMIM:602535
Wolf-Hirschhorn Syndrome
Accessory spleen, Short stature, Ventricular septal defect, Hypospadias, Precocious puberty, Cryp... OMIM:194190
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Testicular neoplasm ORPHA:199244
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:2318
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Lateral ventricle di... ORPHA:457279
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Dilation of Virchow-Robin spaces ORPHA:2148
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arch, Aplasia of the vagina, A... ORPHA:457284
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Rhizomelia, Short stature, Bicuspid aortic valve, Cardiomegaly, Hydrocephal... OMIM:245600
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Pulmonary arterial hypertension, Mitral regurgitation, In... ORPHA:314585
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Agenesis of corpus... OMIM:301043
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature OMIM:224400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningo... OMIM:616546
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Cryptorchidism, Enlarged cerebellum, Colpocephaly, Chordee, Patent foramen ovale ORPHA:477993
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Disproportionate short-limb short stature, Dysgenesis ... OMIM:619479
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... OMIM:609192
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Arachnoiditis
Hydrocephalus ORPHA:137817
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia ORPHA:15
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Cirrhosis, Prostatitis ORPHA:1546
Muenke Syndrome
Hydrocephalus ORPHA:53271
Pfeiffer Syndrome
Hydrocephalus, Chiari malformation OMIM:101600
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Patent ductus arteriosus, ... OMIM:619869
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Chiari type I malformation, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Short stature, Subdural hemorrhage OMIM:619714
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Tricuspid regurgitation, Epispadias... ORPHA:2556
Cardiofaciocutaneous Syndrome
Short stature, Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis,... ORPHA:1340
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Chiari type I malformation, Aortic aneurysm OMIM:182212
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Fused labia minora OMIM:207410
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature OMIM:616507
Yunis-Varon Syndrome
Short stature, Ventricular septal defect, Hypospadias, Cardiomegaly, Postnatal growth retardation... ORPHA:3472
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... OMIM:613471
Opitz-Kaveggia Syndrome
Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosu... OMIM:305450
Costello Syndrome
Short stature, Ventricular septal defect, Hydrocephalus, Enlarged cerebellum, Mitral valve prolap... OMIM:218040
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Ventriculomegaly ORPHA:395
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopian tube morphol... ORPHA:3412
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Kabuki Syndrome 1
Hemolytic anemia, Short stature, Ventricular septal defect, Premature thelarche, Autoimmune throm... OMIM:147920
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Cerebellar vermis hypoplasia, Short stature, B... OMIM:612289
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus, Stillbirth, Ascites OMIM:617667
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus... OMIM:616682
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Hypospadias, Myelomeningocele, Hydrocephalus, Abn... ORPHA:90652
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Cerebellar vermis hypoplasia, Hypogonadotropic hypog... ORPHA:79318
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Precocious puberty, Hydrocephalus, Hypertension, Hypot... ORPHA:58
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Postnatal growth retardation, Hydrocephalus, Mitral valve prolapse, Asc... ORPHA:536467
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Constricting Bands, Congenital
Ectopia cordis OMIM:217100
Kabuki Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalu... ORPHA:2322
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Abnormal heart morphology OMIM:239300
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Aortic valve stenosis, D... ORPHA:401973
Monosomy 9Q22.3
Ovarian fibroma, Hydrocephalus, Cardiac fibroma, Chiari malformation, Ventriculomegaly ORPHA:77301
Prader-Willi Syndrome Due To Translocation
Short stature, Hypogonadotropic hypogonadism, External genital hypoplasia, Patent ductus arterios... ORPHA:177907
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Hydrocephalus, Short stature, Telangiectasia of the skin OMIM:616007
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... ORPHA:268810
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect, Coarctation of aorta ORPHA:268249
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Oeis Complex
Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, Hydrocephalus, Cryptorch... OMIM:258040
Cousin Syndrome
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous... OMIM:260660
Peters-Plus Syndrome
Hypoplasia of the vagina, Rhizomelia, Bilobate gallbladder, Ventricular septal defect, Hypospadia... OMIM:261540
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Elevated hepatic transaminase, Aortic regurgitation, Bicuspid aortic valve, Ventri... OMIM:619475
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Short stature ORPHA:220295
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypo... OMIM:312870
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Postnatal growth... OMIM:268300
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Atrial septal defect, Transient ischemic attack, Proportionate short stature,... ORPHA:500150
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Short stature, Hydrocephalus, Partial agenesis of the corpus callosum,... OMIM:300373
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse OMIM:104350
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Epispa... ORPHA:2658
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Short stature, Cryptorchidism, Heart murmur, Abnormal heart morphology, Mitral ... OMIM:615873
Peters Plus Syndrome
Short stature, Rhizomelia, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hydrocephal... ORPHA:709
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia OMIM:100800
Hajdu-Cheney Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent duct... OMIM:102500
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Baller-Gerold Syndrome
Severe short stature, Short stature, Anomalous splenoportal venous system, Hydrocephalus, Abnorma... OMIM:218600
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal heart morph... OMIM:219000
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Holoprosencephaly 9
Short stature, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosen... OMIM:610829
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Short stature, Aqueductal stenosis, Hydrocephalus, Patent ductus arter... OMIM:154400
Mohr Syndrome
Hydrocephalus, Short stature OMIM:252100
Raine Syndrome
Neonatal death, Hydrocephalus, Short stature OMIM:259775
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Short stature, Hypospadias, Secundum atrial septal defect, Cryptorchidism,... OMIM:264090
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Short stature OMIM:618367
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Lateral ventricle dilatation, Cerebellar hypoplasia, Atrial septal defect, Intraute... OMIM:300896
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carci... OMIM:109400
Neurofibromatosis Type 1
Short stature, Precocious puberty, Cryptorchidism, Hydrocephalus, Arterial stenosis, Chronic myel... ORPHA:636
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal external... OMIM:607872
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Intrauterine growth retardation OMIM:208150
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
6Q Terminal Deletion Syndrome
Colpocephaly, Hypospadias, Cerebellar hypoplasia, Phimosis ORPHA:75857
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism,... ORPHA:3455
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus ... ORPHA:261337
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Hydrocephalus, Cystocele, Cryptorchidism, ... ORPHA:322
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Anemia ORPHA:3042
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Abnorm... ORPHA:220386
Scalp-Ear-Nipple Syndrome
Short stature, Cardiac myxoma, Congestive heart failure, Hypertension, Lateral ventricle dilatati... OMIM:181270
Microphthalmia With Limb Anomalies
Venous insufficiency, Cryptorchidism, Hydrocephalus, Short stature ORPHA:1106
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst OMIM:253280
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Abnormal heart morphology, Sex rever... OMIM:114290
Floating-Harbor Syndrome
Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Atrial septal defect, Mesocardia ORPHA:2044
Otopalatodigital Syndrome, Type Ii
Short stature, Hypospadias, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydroceph... OMIM:304120
Focal Dermal Hypoplasia
Short stature, Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Clitoral hypoplas... OMIM:305600
Floating-Harbor Syndrome
Atrial septal defect, Cryptorchidism, Mesocardia OMIM:136140
Genitopatellar Syndrome
Small scrotum, Ventricular septal defect, Enlarged labia minora, Cryptorchidism, Colpocephaly, La... OMIM:606170
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Short stature, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve ... ORPHA:363700
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Abnormal cerebellum morphology ORPHA:637
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocep... ORPHA:573278
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Coar... OMIM:164210

Histopathology

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

There is no histopathology data for Odad3

IMPC related publications

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

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Odad3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Odad3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Odad3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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