Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Odad3tm1b(EUCOMM)Hmgu HET   Early adult 8.03×10-05
impaired glucose tolerance Odad3tm1b(EUCOMM)Hmgu HET Early adult 2.21×10-05
abnormal bone structure Odad3tm1b(EUCOMM)Hmgu HET Early adult 3.76×10-05
preweaning lethality, incomplete penetrance Odad3tm1b(EUCOMM)Hmgu HOM   Early adult 7.64×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Odad3 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Reduced FEV1/FVC ratio,... OMIM:611884
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Situs... OMIM:615482
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs invers... OMIM:615451
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Recurr... OMIM:608644
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory insufficien... OMIM:615067
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Cough, R... OMIM:612444
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, ... OMIM:614017
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Situs inversus totalis, Respiratory insu... OMIM:614874
Ciliary Dyskinesia, Primary, 28
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus totalis, Respiratory insu... OMIM:615505
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chron... OMIM:614679
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Situs inversus total... OMIM:616037
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus total... OMIM:615500
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Ciliary dyskinesia OMIM:612518
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Cough, Recurrent sinusitis OMIM:300991
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Bronchiectasis, Double outlet right ventricle, Rhinorrhea, Cough, Chronic lung dise... OMIM:618254
Ciliary Dyskinesia, Primary, 14
Wheezing, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs inversus total... OMIM:613807
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Wheezing, Goiter, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Rhinorr... OMIM:617577
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Respiratory ... OMIM:606763
Ciliary Dyskinesia, Primary, 40
Rhinitis, Abnormal heart morphology, Cough, Situs inversus totalis OMIM:618300
Ciliary Dyskinesia, Primary, 13
Sinusitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis OMIM:613193
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis OMIM:616481
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ectopia of the spleen, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Abdominal situs inversus, Situs inversus totalis, Chronic sinusitis, Cough, Decreas... OMIM:619607
Ciliary Dyskinesia, Primary, 19
Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus totalis, Respiratory insufficiency d... OMIM:614935
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Neonatal respiratory distress, Bronchiectasis, Rhinitis, Situs inversus totalis, Ch... OMIM:618063
Hypoglossia With Situs Inversus
Asplenia, Situs inversus totalis, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Atrial septal defect, Porencephalic cyst, ... OMIM:601322
Ciliary Dyskinesia, Primary, 15
Wheezing, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Situs inversus total... OMIM:613808
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Recurrent pne... OMIM:619436
Ciliary Dyskinesia, Primary, 22
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Situs inversus totalis, Respiratory insu... OMIM:615444
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Abnormal cil... OMIM:612649
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cough OMIM:617092
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... OMIM:615415
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Hepatic vascular malformations, Intracranial hemorrhage, Cerebra... OMIM:116860
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Partial atrioventricular canal defect, Polysplenia, Situs inversus t... OMIM:619608
Ciliary Dyskinesia, Primary, 27
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:615504
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... ORPHA:2703
Ciliary Dyskinesia, Primary, 1
Pneumonia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Chronic rhinitis, Chronic ... OMIM:244400
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis OMIM:616726
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Decreased nasal nitric oxide, Re... OMIM:617091
Ciliary Dyskinesia, Primary, 6
Sinusitis, Recurrent sinusitis, Abnormal ciliary motility, Ciliary dyskinesia OMIM:610852
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect OMIM:606217
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis OMIM:618801
Primary Ciliary Dyskinesia
Asplenia, Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnor... ORPHA:244
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Ciliary dyskinesia, Chronic rhinitis, Immotile cilia, Airway obstruction OMIM:242680
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Ventri... OMIM:604213
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Ciliary dyskinesia, Chronic rhinitis, Immotile... OMIM:242670
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Cerebral white matter hypoplasia, Short stature, Stomatocytosis, Mic... ORPHA:168577
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Hypertension, Growth delay, Asplenia, Lymphadenopathy, Coombs-posit... OMIM:614034
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Pulmonic stenosis, Cholest... OMIM:615382
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Cerebellar atrophy, Intrauterine growth retardation, Elevated hepatic transaminase,... OMIM:610333
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Thiamine-responsive megaloblast... OMIM:249270
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Bardet-Biedl Syndrome 8
Hypogonadism, Situs inversus totalis OMIM:615985
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay, Schizencephaly, Ventriculomegaly, Porencephalic cyst, Poly... OMIM:614483
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Anemia, Purpura, Asplenia ORPHA:3204
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Gr... OMIM:616084
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Short statu... ORPHA:1908
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis, Restrictive ventilatory defect OMIM:613686
Dextrocardia
Dextrocardia, Abnormality of the spleen, Pancreatic hypoplasia, Abnormal reproductive system morp... ORPHA:1666
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, T2 hypointense basal ganglia, Subdural hemorrhage, Abnormal caudate ... ORPHA:25
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Megalencephaly, Ventriculomegaly OMIM:615938
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Abnormal tricuspid valve morphology, Respiratory insufficiency ORPHA:1759
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:608647
Osteoporosis
Osteoporosis OMIM:166710
Meckel Syndrome, Type 7
Dandy-Walker malformation, Choroid plexus cyst, Pancreatic cysts, Right ventricular hypertrophy, ... OMIM:267010
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Asplenia, Atrioventricular canal defect, Pul... OMIM:619123
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis OMIM:612650
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Growth delay, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilo... OMIM:615234
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Rhizomelia, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Simplified gyral pattern, Ventriculomegaly, Lissencephaly OMIM:615219
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hemimegalencephaly, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Hypoplasia of the corpus cal... OMIM:615937
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... OMIM:616749
Young Syndrome
Decreased fertility, Obstructive azoospermia, Abnormality of the pancreas ORPHA:3471
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Renal-Hepatic-Pancreatic Dysplasia 1
Dandy-Walker malformation, Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct ... OMIM:208540
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Ascites, Petechiae, Bradycardia, Ventriculomegaly, Decreased l... OMIM:617397
Mosaic Trisomy 9
Dandy-Walker malformation, Dextrocardia, Ventricular septal defect, Intrauterine growth retardati... ORPHA:99776
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Gracile Bone Dysplasia
Asplenia, Ascites, Short stature, Micropenis, Hydrocephalus, Hypoplastic spleen OMIM:602361
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Endocardial fibroelastosis, Cardiomyopathy, Arrhy... ORPHA:2119
Meckel Syndrome
Dandy-Walker malformation, True hermaphroditism, Anencephaly, Asplenia, Pancreatic cysts, Congeni... ORPHA:564
Stormorken Syndrome
Asplenia, Short stature, Epistaxis, Anemia, Howell-Jolly bodies, Abnormal bleeding, Thrombocytope... OMIM:185070
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Polycystic ovaries, Splenomegaly, Hydrocephalus ORPHA:2969
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Primary hypothyroidism, Ciliary dyskinesia OMIM:225050
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts OMIM:613095
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia ORPHA:1237
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Ciliary dyskinesia ORPHA:1882
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus, Microcephaly, Cerebral atrophy OMIM:300884
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Infertility, Azoospermia, Myocardial infarction, Hepatic steatosis, C... OMIM:615703
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Situs inversus totalis, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of pe... ORPHA:990
Agnathia-Otocephaly Complex
Situs inversus totalis, Tracheomalacia, Respiratory distress OMIM:202650
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Abnormal globus pallidus morphology, ... ORPHA:31825
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Icf Syndrome
Communicating hydrocephalus, Short stature, Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Asplenia, Biliary tract abnormality, Splenogonadal fusion, Absent gallbladder, B... OMIM:156810
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Intrauterine growth retardation, Rectovag... ORPHA:1780
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Microcephaly, Azoospermia OMIM:241000
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Ve... ORPHA:858
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Short stature ORPHA:1861
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Hydrocephalus, Cortical dysplasia, Microce... OMIM:618709
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Meckel Syndrome, Type 1
Dandy-Walker malformation, Malformation of the hepatic ductal plate, Anencephaly, Asplenia, Intra... OMIM:249000
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Abdominal situs ambiguus, Abdominal situs inversus, Cere... OMIM:270100
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Decreased liver function, Hepatomegaly OMIM:614870
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Telangiectasia, Ascites, Hepatocellular carcinoma, Amenorrhea, ... OMIM:235200
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Agenesis of corpus... OMIM:600348
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Short stature, Azoospermia, Hyp... OMIM:300845
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Moyamoya phenomenon, Short stature, Az... ORPHA:280679
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus, Cerebellar hypoplasia ORPHA:1538
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Short stature, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Obstructive sleep apnea, Pulmonic stenosis OMIM:609008
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Nephronophthisis 2
Respiratory failure, Situs inversus totalis, Respiratory insufficiency OMIM:602088
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Joubert Syndrome
Situs inversus totalis, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:475
Pagod Syndrome
Meningocele, Abnormality of the spleen, Female pseudohermaphroditism, Abnormal morphology of fema... ORPHA:991
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia, Hydrocephalus OMIM:209970
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Microcephaly, Abnormal mast cell morphology ORPHA:398189
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Neonatal death, Stillbirth, Spl... ORPHA:85212
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Cerebellar atrophy, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epist... OMIM:173470
Hemophilia A
Splenic rupture, Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spo... ORPHA:98878
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Anterior hypopituitarism ORPHA:2863
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Growth delay, Cerebellar hypoplasia, Abnorma... ORPHA:488635
Primary Angiitis Of The Central Nervous System
Multifocal cerebral white matter abnormalities, Intracranial hemorrhage, Recurrent subcortical in... ORPHA:140989
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Chiari malformation, Mitral valve prolapse, Mitral regurgitation, Ab... ORPHA:2462
Brain Small Vessel Disease 3
Cerebral hemorrhage, Cerebral atrophy, Leukoencephalopathy, Cerebral calcification OMIM:618360
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Leukoencephalopathy, Intraventricular hemorr... ORPHA:284388
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Primary Pulmonary Hypoplasia
Dextrocardia, Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumot... ORPHA:2257
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Chiari malformation, Cerebellar atrophy, Mitral regurgitation, Aorti... ORPHA:309282
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Leukoencephalopathy, Recurrent subcor... ORPHA:136
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Cryptorchidism, Abnormal cardiac septum morphology OMIM:614294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, Syncope, Hypertension, Hyperglycorrhachia, ST segment depressi... ORPHA:90065
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Hypertension, Growth delay, Short stature, Abnormal mi... ORPHA:580
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus OMIM:273730
Meacham Syndrome
Hydrometrocolpos, Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Abnor... ORPHA:3097
Maternal Uniparental Disomy Of Chromosome X
Short stature, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genita... ORPHA:261519
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hydrocephalus OMIM:123155
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Cardiomyopathy, Splenomegaly, Hypogonadism, Cerebr... OMIM:608540
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Annular pancreas, Atrioventricular ca... ORPHA:210122
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Intracranial hemorrhage, Acute leukemia, Lymphadenopathy, Bone marrow... ORPHA:3226
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Congenital Factor Xiii Deficiency
Recurrent spontaneous abortion, Prolonged bleeding following circumcision, Bruising susceptibilit... ORPHA:331
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Marden-Walker Syndrome
Dextrocardia, Hypospadias, Ventricular septal defect, Abnormal penis morphology, Intrauterine gro... ORPHA:2461
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Dysgenesi... ORPHA:300573
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Lymphadenitis, Cardiomegaly, Anemia, Abnormal ce... OMIM:618886
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis, Hypogonadism OMIM:615994
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Congenital Hydrocephalus
Abnormal cortical gyration, Small cerebral cortex, Colpocephaly, Abnormal heart morphology, Ventr... ORPHA:2185
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Neutropenia, Splenomegaly, Hydrocephalus, Pancytopenia, Basal ganglia cal... ORPHA:398124
Coach Syndrome 2
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Cerebellar vermis h... OMIM:619111
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Glucocortocoid-insensitive primary hy... ORPHA:404
Dural Sinus Malformation
Hypoplasia of the frontal lobes, Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhag... ORPHA:97339
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Partial agenesis of the corpus callosum, Anemia, Simplified gyral pattern, H... OMIM:619302
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopathy, Cerebellar v... OMIM:615191
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Mirage Syndrome
Hypospadias, Intracranial hemorrhage, Intrauterine growth retardation, Leukopenia, Petechiae, Sho... OMIM:617053
Masa Syndrome
Short stature, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Secretory adrenocortical adenoma, Dex... ORPHA:403
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... ORPHA:169802
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Short Rib-Polydactyly Syndrome
Hypospadias, Intrauterine growth retardation, Hepatic fibrosis, Situs inversus totalis, Abnormal ... ORPHA:1505
Fanconi Anemia, Complementation Group R
Hydrocephalus, Growth delay, Microcephaly OMIM:617244
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Ring Chromosome 21 Syndrome
Infertility, Amenorrhea, Azoospermia, Holoprosencephaly, Abnormal heart morphology, Short stature... ORPHA:1445
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Asplenia, Cholelithiasis, Male hypogonadism, Premature ovarian insuffic... OMIM:240300
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Cerebellar hypoplasia, Asplenia OMIM:617746
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614830
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Dysgenesis of the cerebellar vermis, Azoospermia, Cere... ORPHA:8
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Diffuse white matter abnormalities, Megalencephaly, Thick corpus cal... ORPHA:457359
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Short stature, Neonatal death, Splenomegaly, Anterior pituitary hypoplasia, ... OMIM:619534
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Tachycardia, Cerebral ischemia... ORPHA:449285
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Hydrocephalus, Congest... OMIM:269920
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Elevated hepatic ... OMIM:614480
Pseudo-Torch Syndrome 1
Hepatomegaly, Petechiae, Increased CSF protein, Ventriculomegaly, Splenomegaly, Pachygyria, Decre... OMIM:251290
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hepatomegaly, Ventricular septal defect, Cerebellar atrophy, Intraute... OMIM:614576
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Poland Syndrome
Dextrocardia OMIM:173800
Combined Saposin Deficiency
Hepatomegaly, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum... OMIM:611721
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Stroke, Lymphopenia, Hemol... ORPHA:444463
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Fried Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Cerebral calcification ORPHA:85335
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... ORPHA:231160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Ventriculomegaly, Hydrocephalus, Type II lisse... OMIM:613154
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Epistaxis, Glucocortocoid-insensitive primary hy... ORPHA:251274
Hemochromatosis, Type 2B
Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrh... OMIM:613313
Cach Syndrome
Abnormal pons morphology, Secondary amenorrhea, Cerebellar atrophy, Intrauterine growth retardati... ORPHA:135
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Transient ischemic attack... ORPHA:36382
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Ventriculomegaly, Cerebellar vermis hypoplasia, Abn... ORPHA:101070
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Abnormal cerebellum morphology ORPHA:1532
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Inferior vermis hypoplasia, Hydrocephalus, Cerebellar hy... OMIM:304100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Cerebral hemorrhage, Intracranial hemorrhage, Ascites, Abnormal hear... ORPHA:464321
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Microcephaly OMIM:617281
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Kaposiform Lymphangiomatosis
Ecchymosis, Epidural hemorrhage, Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericard... ORPHA:464329
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Ventricular septal defect, Ventricular hypertrophy, Abnormal circulating ren... ORPHA:369929
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage... ORPHA:79301
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Respiratory insufficiency... OMIM:601186
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Short stature, Splenomegaly, Ventricul... OMIM:615630
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Pulmonary lymphan... OMIM:265380
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Menkes Disease
Intrauterine growth retardation, Intracranial hemorrhage, Short stature, Microcephaly OMIM:309400
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Ventriculomegaly, Hydrocephalus OMIM:617967
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Type I... ORPHA:352682
Mental Retardation, Autosomal Dominant 48
Hypospadias, Dysgenesis of the cerebellar vermis, Dilated fourth ventricle, Cerebellar dysplasia,... OMIM:617751
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Exocrine panc... OMIM:269200
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of... OMIM:300864
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Meningocele, Intracranial hemorrhage, Chiari malformation, Ventriculom... ORPHA:2481
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Dilation of Virchow-Robin spaces, Hypoplastic hippocampu... OMIM:619517
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Abnormal globus pallidus morphology, Pancreatitis, Cardiomyopathy, Thro... OMIM:251000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... ORPHA:99147
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Alobar holoprosencephaly, Hydrocepha... OMIM:609637
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Abnormal bleeding, Thrombocytopenia,... ORPHA:721
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Antenatal intracerebral hemorrhage, ... OMIM:608836
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Ventricular septal defect, Cereb... ORPHA:79243
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... ORPHA:1330
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Leukoencephalopathy, Hypergonadotropic hypogonadism, Abnormality of thalamus morphology OMIM:613724
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... ORPHA:169805
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Ventriculomegaly, Increased circulating gonadotropin le... ORPHA:99330
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenome... OMIM:613673
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Cardiofaciocutaneous Syndrome 4
Short stature, Abnormal aortic valve morphology, Abnormal ventricular septum morphology, Pulmonic... OMIM:615280
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive ... ORPHA:163596
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Intrauterine growth retardation, Splenomegaly, Vasculitis, Cerebral atrophy, Basal ... OMIM:615846
Dengue Fever
Cerebral hemorrhage, Hepatomegaly, Gingival bleeding, Leukopenia, Petechiae, Ascites, Epistaxis, ... ORPHA:99828
Propionic Acidemia
Hepatomegaly, Neutropenia, Short stature, Anemia, Pancreatitis, Cardiomyopathy, Cerebral atrophy,... OMIM:606054
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Ventriculomegaly, Hy... OMIM:225790
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Cryptorchidism, Overriding aorta OMIM:616145
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Acute leukemia, Atrioventricular canal defect, Situs inv... ORPHA:289
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Cerebral Visual Impairment
Intracranial hemorrhage, Abnormal cerebral morphology, Hydrocephalus, Abnormal cerebral white mat... ORPHA:447788
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Type II lissencephaly, Hydrocephalus, Ventriculomegaly ORPHA:324416
Alg2-Cdg
Hepatomegaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum, Hyperintensity o... ORPHA:79326
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Aicardi-Goutieres Syndrome 1
Petechiae, Short stature, Leukoencephalopathy, CSF lymphocytic pleiocytosis, Splenomegaly, Vascul... OMIM:225750
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenomegaly, Abnormal mac... ORPHA:2585
Feingold Syndrome 1
Asplenia, Annular pancreas, Accessory spleen, Polysplenia, Microcephaly OMIM:164280
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplasia, Lissencephaly, Agen... ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Leukoencephalopathy, Polymicrogyri... OMIM:615181
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Leukemia, Ventriculomegaly, Cavum septum pellucidum, P... OMIM:602501
Scimitar Syndrome
Dextrocardia, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Mitral atresia, A... ORPHA:185
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Cerebral calcification, Abnormality o... OMIM:304340
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Ascites, Short stature, Anemia, Decreased osteoclast count, Stillbirt... OMIM:259720
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Cerebellar atrophy, Hepatic fibrosis, Splenomegaly, Hepatic failure OMIM:616719
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Male infertility, Azoospermia ORPHA:276183
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Ventricular septal defect, Intrauterine growth retardatio... OMIM:611134
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral val... OMIM:602782
Renpenning Syndrome
Hypospadias, Growth delay, Heterotaxy, Severe short stature, Decreased testicular size, Microcephaly ORPHA:3242
8P11.2 Deletion Syndrome
Hemolytic anemia, Mitral valve prolapse, Hypoplasia of penis, Short stature, Azoospermia, Growth ... ORPHA:251066
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia OMIM:613909
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Accessory spleen, Hepatopulm... OMIM:618280
Achondroplasia
Rhizomelia, Hydrocephalus, Megalencephaly, Neonatal short-limb short stature OMIM:100800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Mitral regurgitation, Polymicrogyria, Abnormal cardiac... ORPHA:83473
Tetraamelia Syndrome 1
Asplenia, Urethral atresia, Hypoplasia of the fallopian tube, Vaginal atresia, Hydrocephalus, Abs... OMIM:273395
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Unilateral Hemispheric Polymicrogyria
Dilation of lateral ventricles, Thick cerebral cortex, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Transient ischemic attack, Pulmonary embolism, Abnormal cerebral vas... ORPHA:774
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Delayed p... ORPHA:141333
Multiple Sulfatase Deficiency
Hepatomegaly, Cerebellar atrophy, Short stature, Splenomegaly, Ventriculomegaly, Hydrocephalus, C... OMIM:272200
H Syndrome
Facial telangiectasia, Amenorrhea, Azoospermia, Lymphadenopathy, Short stature, Hypogonadism, Hep... ORPHA:168569
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Splenomegaly, Redu... OMIM:609981
Hydranencephaly
Abnormal corpus striatum morphology, Atrophic pituitary gland, Antenatal intracerebral hemorrhage... ORPHA:2177
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Menometrorrhagia, Ce... ORPHA:98879
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Micropenis, Polymicrogyria, Bilateral cryptorchidism OMIM:300982
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Ventricular septal defect, Intracranial hemorrhage, Short stature, Anemia, Absent ga... ORPHA:163979
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, D... OMIM:220220
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Martsolf Syndrome 2
Short stature, Hypogonadotropic hypogonadism, Dilation of lateral ventricles, Hypoplasia of the c... OMIM:619420
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated hepatic transaminase, Prolonged pro... ORPHA:99901
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly ORPHA:79238
Pseudoaminopterin Syndrome
Short stature, Asplenia, Hydrocephalus, Cryptorchidism, Patent foramen ovale ORPHA:221120
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Growth delay, Elevated hepatic iron concentration, Azoospermia, Anemia, Hypo... ORPHA:300298
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Abnormality of the spleen, Bacterial endocarditis, Hepatic fibrosis, Mitral valve cal... ORPHA:2072
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Short stature, Double outlet right ventricle, Hete... ORPHA:3426
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus, Microcephaly OMIM:619470
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Diffuse white matter abnormalities, Dilated fourth ventricle, Hypoplasia of the ... ORPHA:370959
Dysplastic Cortical Hyperostosis
Hepatomegaly, Short stature, Microcephaly, Splenomegaly ORPHA:2204
Ring Chromosome 7 Syndrome
Hypospadias, Severe intrauterine growth retardation, Short stature, Holoprosencephaly, Situs inve... ORPHA:1449
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum, Cerebellar hypoplasia ORPHA:401815
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Ventricular septal defect, Hypoplasia of the corpus callosum, Cry... OMIM:616816
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly ORPHA:26
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Hepatic failure, Thr... ORPHA:49566
48,Xxyy Syndrome
Infertility, Azoospermia, Ventriculomegaly, Hypergonadotropic hypogonadism, Cryptorchidism, Hypop... ORPHA:10
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis OMIM:607616
Joubert Syndrome With Ocular Defect
Dextrocardia, Apnea, Abnormality of the hypothalamus-pituitary axis, Abnormal pattern of respiration ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Decreased testicular size, Ventriculomegaly, Micropenis, ... OMIM:615287
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Corpus callosum atrophy, Diffuse cerebral at... ORPHA:77299
Central Precocious Puberty
Hypothalamic hamartoma, Proportionate short stature, Increased circulating gonadotropin level, Is... ORPHA:759
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombocytopenia ORPHA:231393
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Reduced sperm motility, Short stature, Splenomegaly OMIM:602271
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian ins... ORPHA:100025
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Diabetic Embryopathy
Ventricular septal defect, Abnormal morphology of female internal genitalia, Abnormality of the p... ORPHA:1926
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Short stature, Hepatitis, Bone marrow hypocel... ORPHA:381
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Triploidy
Hypospadias, Hepatomegaly, Meningocele, Abnormality of the gallbladder, Intrauterine growth retar... ORPHA:3376
Mevalonic Aciduria
Microcephaly, Short stature, Cerebral cortical atrophy, Splenomegaly ORPHA:29
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding OMIM:227500
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... OMIM:615830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification ORPHA:73256
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Growth delay, Short stature, Splenomegaly, Hypoglycorrhachia, Hemolytic anemia, Mic... OMIM:608885
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Acute pancreatitis, Panc... ORPHA:99827
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Cardiac myxoma, Increased urinary cortisol level, Type II diabetes mellitus,... ORPHA:189439
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Bicuspid aortic valve, Bifid scrotum, Short stature, Agenesis of cerebellar vermis, ... ORPHA:261537
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hepatosplenomegaly, Micropenis, Acute pancreatitis, Cerebral atrophy, B... OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure OMIM:300886
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hypertension, Neutropenia, Increased mean corpuscular volume, Intrauterine gro... ORPHA:2169
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Noncompaction cardiomyo... OMIM:616651
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebral am... OMIM:605714
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Jaundice,... OMIM:615631
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage OMIM:243500
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Ventricular septal defect, Short stature, Ventriculomegaly, Hydrocephalus, Cryptorch... OMIM:218350
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Johanson-Blizzard Syndrome
Dextrocardia, Anemia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Diabetes m... ORPHA:2315
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Cryptorchidism, Atrioventricular canal defect, Supernumerary nipple OMIM:618929
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism, Cerebral calcification ORPHA:624
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Mental Retardation, Buenos Aires Type
Hypospadias, Partial agenesis of the corpus callosum, Intrahepatic biliary atresia, Atrial septal... OMIM:249630
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Cerebral calcification ORPHA:1931
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Depletion of mitochondrial DNA in l... OMIM:251880
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Intrauterine growth retardation, Ventriculomegaly, Aplasia/Hypoplasia of ... ORPHA:272
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Ascites, Hepatocellular carcinoma, Petechiae, Epistaxis, Nodular regene... OMIM:619463
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Urethral atresia, Transposition of the great arteries, ... OMIM:314390
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Short stature, Abnormality of the male genitalia, Double outlet right ventricle, Ch... OMIM:614886
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Cerebral atrophy, Elevated hepatic transa... OMIM:613489
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Neutropenia, Intrauterine growth retardation, Growth delay, Subdural hemo... ORPHA:79282
Myopathy With Extrapyramidal Signs
Leukocytosis, Hepatomegaly, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the interna... OMIM:615673
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Agenesis of cerebellar vermis, Abnormal cerebral cortex morphology, Ve... ORPHA:163961
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Oligospermia, Abnormality of the menstrual cycle, Decreased female libi... ORPHA:91348
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... ORPHA:397951
Familial Afibrinogenemia
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Spontaneous abortion, Menometrorrhagia, Abnorm... ORPHA:98880
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Acalvaria
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus ORPHA:945
Cog5-Cdg
Hepatomegaly, Cerebellar atrophy, Intrauterine growth retardation, Short stature, Cerebral white ... ORPHA:263487
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Bicuspid aortic valve, Bifid scrotum, Short stature, Agenesis of cerebellar vermis, ... ORPHA:261552
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Splenomegaly, Diabetes mellitus, Pancytopenia, Bone marrow hy... ORPHA:699
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Short stature, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hypospadias, Ventricular septal defect, Intrauterine growth retardatio... OMIM:220210
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Decreased circulating renin level, Glucocortocoid-insensitive pri... ORPHA:231580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Cardiac total anomalous pulmonary... OMIM:608978
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Coproporphyria, Hereditary
Hepatomegaly, Hypertension, Tachycardia, Splenomegaly, Jaundice OMIM:121300
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly, Gonadal dysgenesis OMIM:615041
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Abnormality of the gallbladder, Abnormality of mesentery m... ORPHA:2075
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development